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 CDK11B 984 broad.mit.edu 37 1 1572346 1572346 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:1572346C>T uc001agv.1 - 20 1824 c.1713G>A c.(1711-1713)GCG>GCA p.A571A CDK11B_uc009vkj.2_Silent_p.A228A|CDK11B_uc001ags.1_Silent_p.A429A|CDK11B_uc001agt.1_Silent_p.A354A|CDK11B_uc001aha.1_Silent_p.A537A|CDK11B_uc001agw.1_Silent_p.A526A|CDK11B_uc001agy.1_Silent_p.A569A|CDK11B_uc001agx.1_Silent_p.A560A|CDK11B_uc001agz.1_Silent_p.A315A NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 584 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 CGTACTCCCGCGCCAGCCCGA 0.687 NA 15 21 0 0 0 0 CELA2B 51032 broad.mit.edu 37 1 15813844 15813844 + Missense_Mutation SNP G G A rs141194336 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:15813844G>A uc001awl.2 + 7 729 c.704G>A c.(703-705)GGC>GAC p.G235D NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 235 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CATGGCATCGGCAGCCTCACG 0.577 NA 4 109 0 0 0 0 ZBTB17 7709 broad.mit.edu 37 1 16272657 16272657 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:16272657G>A uc001axl.3 - 5 766 c.527C>T c.(526-528)GCG>GTG p.A176V ZBTB17_uc010obq.1_Missense_Mutation_p.A93V|ZBTB17_uc010obr.1_Missense_Mutation_p.A176V|ZBTB17_uc010obs.1_Missense_Mutation_p.A100V|ZBTB17_uc010obt.1_Missense_Mutation_p.A113V|ZBTB17_uc010obu.1_Missense_Mutation_p.A100V|ZBTB17_uc009vom.1_Missense_Mutation_p.A119V|ZBTB17_uc010obv.1_Missense_Mutation_p.A176V NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 176 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) ACCGCTGGCCGCACTCTGGGC 0.687 NA 4 145 0 0 0 0 BAI2 576 broad.mit.edu 37 1 32221927 32221927 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:32221927G>T uc001btn.2 - 4 865 c.511C>A c.(511-513)CGC>AGC p.R171S BAI2_uc010ogp.1_Missense_Mutation_p.R159S|BAI2_uc010ogq.1_Missense_Mutation_p.R171S|BAI2_uc001bto.2_Missense_Mutation_p.R171S|BAI2_uc001btq.1_Missense_Mutation_p.R159S|BAI2_uc010ogr.1_Missense_Mutation_p.R159S NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 171 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCCAGCAGGCGCGGGGCCTCG 0.622 NA 9 76 0.000442599 0.000472983 1 0 TEKT2 27285 broad.mit.edu 37 1 36552864 36552864 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:36552864G>T uc001bzr.2 + 7 934 c.807G>T c.(805-807)CTG>CTT p.L269L TEKT2_uc001bzs.2_Silent_p.L175L|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN tektin 2 269 Potential. cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGAAGCGGCTGCGGGAGATGG 0.542 NA 13 50 2.62e-11 3.16e-11 1 0 SLC6A9 6536 broad.mit.edu 37 1 44467985 44467985 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:44467985C>T uc001cll.2 - 8 1373 c.1181G>A c.(1180-1182)CGG>CAG p.R394Q SLC6A9_uc009vxe.2_Missense_Mutation_p.R250Q|SLC6A9_uc010okm.1_Missense_Mutation_p.R321Q|SLC6A9_uc001clm.2_Missense_Mutation_p.R340Q|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R325Q|SLC6A9_uc001cln.2_Missense_Mutation_p.R321Q|SLC6A9_uc010oko.1_Missense_Mutation_p.R210Q|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 394 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GAGCACTCACCGGTAACAGTT 0.607 NA 12 74 0 0 0 0 DAB1 1600 broad.mit.edu 37 1 57537304 57537304 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:57537304A>G uc001cys.1 - 8 1123 c.449T>C c.(448-450)GTT>GCT p.V150A DAB1_uc001cyt.1_Missense_Mutation_p.V150A|DAB1_uc001cyq.1_Missense_Mutation_p.V150A|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.V150A|DAB1_uc009vzx.1_Missense_Mutation_p.V150A NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 150 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 GTCCAGAATAACAGGTTCAGC 0.418 NA 21 48 0 0 0 0 LRRC7 57554 broad.mit.edu 37 1 70555441 70555441 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:70555441T>C uc001dep.2 + 23 4400 c.4370T>C c.(4369-4371)CTT>CCT p.L1457P LRRC7_uc009wbg.2_Missense_Mutation_p.L741P|LRRC7_uc001deq.2_Missense_Mutation_p.L651P NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1457 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AATCCTGGCCTTGGATTTAGT 0.289 NA 22 114 0 0 0 0 ZRANB2 9406 broad.mit.edu 37 1 71542527 71542527 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:71542527C>A uc001dft.2 - 4 319 c.252G>T c.(250-252)GAG>GAT p.E84D ZRANB2_uc001dfs.2_Missense_Mutation_p.E84D NM_203350 NP_976225 O95218 ZRAB2_HUMAN zinc finger protein 265 isoform 1 84 RanBP2-type 2. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACATATTACACTCTGATCTTC 0.264 NA 10 99 6.4e-05 6.99e-05 1 0 C1orf173 127254 broad.mit.edu 37 1 75055489 75055489 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:75055489C>A uc001dgg.2 - 12 2221 c.2002G>T c.(2002-2004)GTT>TTT p.V668F uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.V462F NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 668 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTTTAAGAACATTCTCAAAG 0.398 NA 22 149 3.01e-09 3.55e-09 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094330 77094330 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:77094330T>C uc001dhh.2 + 5 920 c.757T>C c.(757-759)TAC>CAC p.Y253H ST6GALNAC3_uc010orh.1_Missense_Mutation_p.Y152H NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 253 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 AAAAGTCCCCTACCATTATTA 0.313 NA 17 77 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86426969 86426969 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:86426969A>G uc001dlj.2 - 24 2567 c.2525T>C c.(2524-2526)GTA>GCA p.V842A COL24A1_uc001dli.2_5'UTR|COL24A1_uc010osd.1_Missense_Mutation_p.V142A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 842 Collagen-like 5. GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TTGATCTCCTACTTCTCCCTG 0.269 NA 26 84 0 0 0 0 BARHL2 343472 broad.mit.edu 37 1 91182748 91182748 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:91182748G>T uc001dns.2 - 1 47 c.5C>A c.(4-6)ACA>AAA p.T2K NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 2 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CCCTTCCATTGTCATTGCTAC 0.527 NA 17 136 1.45e-14 1.8e-14 1 0 HFM1 164045 broad.mit.edu 37 1 91781966 91781966 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:91781966A>T uc001doa.3 - 26 2980 c.2880T>A c.(2878-2880)GAT>GAA p.D960E HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.D639E|HFM1_uc001dob.3_Missense_Mutation_p.D148E|HFM1_uc010osv.1_Missense_Mutation_p.D644E NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 960 SEC63. 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) GTTCCCTTGCATCTGTCTCTT 0.299 NA 48 122 0 0 0 0 SLC44A3 126969 broad.mit.edu 37 1 95322999 95322999 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:95322999T>A uc001dqv.3 + 10 1288 c.1181T>A c.(1180-1182)ATC>AAC p.I394N SLC44A3_uc001dqx.3_Missense_Mutation_p.I394N|SLC44A3_uc010otq.1_Missense_Mutation_p.I326N|SLC44A3_uc010otr.1_Missense_Mutation_p.I358N|SLC44A3_uc001dqw.3_Missense_Mutation_p.I346N|SLC44A3_uc010ots.1_Missense_Mutation_p.I314N|SLC44A3_uc009wds.2_Missense_Mutation_p.I297N|SLC44A3_uc010ott.1_Missense_Mutation_p.I314N|SLC44A3_uc010otu.1_RNA NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 394 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) AGTGAATTCATCCTTGCGTGC 0.448 NA 64 166 0 0 0 0 SLC44A3 126969 broad.mit.edu 37 1 95332973 95332973 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:95332973G>C uc001dqv.3 + 12 1589 c.1482G>C c.(1480-1482)CAG>CAC p.Q494H SLC44A3_uc001dqx.3_Missense_Mutation_p.Q493H|SLC44A3_uc010otq.1_Missense_Mutation_p.Q426H|SLC44A3_uc010otr.1_Missense_Mutation_p.Q458H|SLC44A3_uc001dqw.3_Missense_Mutation_p.Q446H|SLC44A3_uc010ots.1_Missense_Mutation_p.Q414H|SLC44A3_uc009wds.2_Missense_Mutation_p.Q397H|SLC44A3_uc010ott.1_Missense_Mutation_p.Q413H|SLC44A3_uc010otu.1_RNA NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 494 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) ATCTCAACCAGGTACGTCTCT 0.423 NA 25 165 0 0 0 0 AMY2B 280 broad.mit.edu 37 1 104114736 104114736 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:104114736C>G uc001duq.2 + 4 789 c.173C>G c.(172-174)TCT>TGT p.S58C AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S58C NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 58 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TTGTAGGTCTCTCCACCAAAT 0.313 NA 50 282 0 0 0 0 AMY2B 280 broad.mit.edu 37 1 104115822 104115822 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:104115822T>C uc001duq.2 + 5 1069 c.453T>C c.(451-453)TTT>TTC p.F151F AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.F151F|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 151 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GATGGGATTTTAATGATGGTA 0.408 NA 76 795 0 0 0 0 PRMT6 55170 broad.mit.edu 37 1 107600360 107600360 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:107600360C>G uc010ous.1 + 1 1094 c.1023C>G c.(1021-1023)ATC>ATG p.I341M NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 341 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) CAGGAGAGATCACGCTGCTGC 0.617 NA 9 45 0 0 0 0 NES 10763 broad.mit.edu 37 1 156641773 156641773 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:156641773A>G uc001fpq.2 - 4 2340 c.2207T>C c.(2206-2208)CTA>CCA p.L736P NM_006617 NP_006608 P48681 NEST_HUMAN nestin 736 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCTGTTTCTAGAGGTCTCAC 0.428 NA 66 202 0 0 0 0 CD1A 909 broad.mit.edu 37 1 158224885 158224885 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:158224885C>A uc001frt.2 + 2 603 c.70C>A c.(70-72)CCT>ACT p.P24T NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 24 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GCTCAAGGAGCCTCTCTCCTT 0.483 NA 4 188 0.000602214 0.000640275 1 0 OR10K2 391107 broad.mit.edu 37 1 158389862 158389862 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:158389862G>C uc010pii.1 - 1 795 c.795C>G c.(793-795)AAC>AAG p.N265K NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TTGAGGAGTAGTTGGACTGAG 0.398 NA 41 96 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158585170 158585170 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:158585170C>T uc001fst.1 - 48 6823 c.6624G>A c.(6622-6624)GCG>GCA p.A2208A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2208 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GACGCTTCATCGCCTGGATCT 0.468 NA 92 198 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158669837 158669837 + Silent SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:158669837G>C uc001fsu.1 - 1 606 c.606C>G c.(604-606)GTC>GTG p.V202V NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CTGCATGAATGACATCCACTA 0.483 NA 33 115 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159897613 159897613 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:159897613G>A uc001fur.2 - 20 3493 c.3295C>T c.(3295-3297)CTG>TTG p.L1099L IGSF9_uc001fuq.2_Silent_p.L1083L|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L245L NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 1099 Cytoplasmic (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) AAAGTCTCCAGCAATTCCATG 0.527 NA 32 103 0 0 0 0 RXRG 6258 broad.mit.edu 37 1 165380003 165380004 + Missense_Mutation DNP CC CC AT TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:165380003_165380004CC>AT uc001gda.2 - 6 1148_1149 c.848_849GG>AT c.(847-849)TGG>TAT p.W283Y NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 283 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TACGCTTGGCCCATTCAACGAG 0.49 NA 7 47 0 0 0 0 QSOX1 5768 broad.mit.edu 37 1 180165686 180165686 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:180165686G>T uc001gnz.2 + 12 1833 c.1758G>T c.(1756-1758)ATG>ATT p.M586I QSOX1_uc001gny.2_Missense_Mutation_p.M586I|QSOX1_uc001goa.2_Missense_Mutation_p.M586I|QSOX1_uc001goc.2_Missense_Mutation_p.M128I|FLJ23867_uc001god.3_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 586 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 CTGAGATGATGAAGTCCCCCA 0.637 NA 45 132 2.21e-33 2.92e-33 1 0 LAMC1 3915 broad.mit.edu 37 1 183105651 183105651 + Silent SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:183105651T>G uc001gpy.3 + 25 4502 c.4245T>G c.(4243-4245)GCT>GCG p.A1415A NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1415 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGCAGTGCTGCGGCGGATG 0.592 NA 4 53 0 0 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128771 197128771 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:197128771C>T uc001gtx.1 - 10 2517 c.2448G>A c.(2446-2448)CAG>CAA p.Q816Q ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TGTCAGGCATCTGAACTGGAA 0.463 NA 52 120 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197390919 197390919 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:197390919C>T uc001gtz.2 + 6 2096 c.1961C>T c.(1960-1962)ACC>ATC p.T654I CRB1_uc010poz.1_Missense_Mutation_p.T585I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T542I|CRB1_uc010ppb.1_Missense_Mutation_p.T654I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.T135I|CRB1_uc001gub.1_Missense_Mutation_p.T303I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 654 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.T654T(1) ovary(5)|skin(3)|large_intestine(1) 9 AATCACATTACCCTGGAGAAC 0.448 NA 68 218 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197404293 197404293 + Missense_Mutation SNP A A G rs146270698 by1000genomes TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:197404293A>G uc001gtz.2 + 9 3435 c.3300A>G c.(3298-3300)ATA>ATG p.I1100M CRB1_uc010poz.1_Missense_Mutation_p.I1076M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I988M|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.I581M|CRB1_uc001gub.1_Missense_Mutation_p.I749M NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1100 Extracellular (Potential).|Laminin G-like 3. I -> R (in LCA8).|I -> T (in RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TAAGTACAATAGAAATCGGAG 0.368 NA 47 119 0 0 0 0 IPO9 55705 broad.mit.edu 37 1 201839980 201839980 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:201839980C>T uc001gwz.2 + 18 2453 c.2403C>T c.(2401-2403)GTC>GTT p.V801V NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 801 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 CGCTCAGTGTCATGCAGGTAA 0.498 NA 12 70 0 0 0 0 IKBKE 9641 broad.mit.edu 37 1 206648211 206648211 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:206648211G>A uc001hdz.1 + 5 600 c.232G>A c.(232-234)GGA>AGA p.G78R IKBKE_uc009xbu.1_Missense_Mutation_p.G78R|IKBKE_uc009xbv.1_Missense_Mutation_p.G78R|IKBKE_uc001hea.1_5'UTR NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 78 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CCCATAGGGCGGAAGCCGGCA 0.617 NA 7 50 0 0 0 0 DYRK3 8444 broad.mit.edu 37 1 206821624 206821624 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:206821624T>G uc001hej.2 + 3 1249 c.1081T>G c.(1081-1083)TTC>GTC p.F361V DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.F341V NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 361 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTCCAGCTGTTTCGAGTACCA 0.453 NA 12 188 0 0 0 0 FCAMR 83953 broad.mit.edu 37 1 207135666 207135666 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:207135666C>A uc001hfa.3 - 5 1044 c.544G>T c.(544-546)GTG>TTG p.V182L FCAMR_uc001hfb.2_Missense_Mutation_p.V182L|FCAMR_uc009xca.1_Missense_Mutation_p.V182L|FCAMR_uc001hfc.2_Missense_Mutation_p.V157L NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 137 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity ovary(1) 1 AGCCTCACCACAAACAAGCCT 0.507 NA 3 50 2.32e-09 2.74e-09 1 0 INTS7 25896 broad.mit.edu 37 1 212118271 212118271 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:212118271A>G uc001hiw.1 - 19 2561 c.2456T>C c.(2455-2457)ATT>ACT p.I819T INTS7_uc009xdb.1_Missense_Mutation_p.I799T|INTS7_uc001hix.1_Missense_Mutation_p.I695T|INTS7_uc001hiy.1_Missense_Mutation_p.I805T|INTS7_uc010pta.1_Missense_Mutation_p.I770T NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 819 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTGGACAGCAATGGGCTCTGC 0.512 NA 23 72 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216074210 216074210 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:216074210G>A uc001hku.1 - 39 7725 c.7338C>T c.(7336-7338)GCC>GCT p.A2446A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2446 Extracellular (Potential).|Fibronectin type-III 11. 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) TGGTTGGAGTGGCAGATGAAA 0.517 NA HNSCC(13;0.011) 26 91 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232941433 232941433 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:232941433G>C uc001hvh.2 + 1 796 c.664G>C c.(664-666)GCC>CCC p.A222P NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 80 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CGCTCCCGCCGCCGAACCGTG 0.721 NA 4 20 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237666648 237666648 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:237666648A>G uc001hyl.1 + 22 2576 c.2456A>G c.(2455-2457)TAT>TGT p.Y819C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 819 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCACCTGGGTATGCTCCTTGT 0.458 NA 8 34 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237935319 237935319 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:237935319G>A uc001hyl.1 + 86 11685 c.11565G>A c.(11563-11565)CAG>CAA p.Q3855Q RYR2_uc010pya.1_Silent_p.Q270Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3855 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) TAGATTTTCAGAATTATCTGA 0.343 NA 5 7 0 0 0 0 ECHDC3 79746 broad.mit.edu 37 10 11805415 11805415 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:11805415G>A uc001ikw.3 + 5 1004 c.784G>A c.(784-786)GAC>AAC p.D262N ECHDC3_uc009xix.2_Missense_Mutation_p.D131N NM_024693 NP_078969 Q96DC8 ECHD3_HUMAN enoyl Coenzyme A hydratase domain containing 3 262 mitochondrion catalytic activity 0 GCTGCCCCAGGACCTGGGGAC 0.637 NA 25 55 0 0 0 0 SEPHS1 22929 broad.mit.edu 37 10 13361236 13361236 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:13361236C>T uc001imk.2 - 9 1444 c.1085G>A c.(1084-1086)CGC>CAC p.R362H SEPHS1_uc001imh.2_Missense_Mutation_p.R286H|SEPHS1_uc010qbs.1_Missense_Mutation_p.R314H|SEPHS1_uc001imi.2_Missense_Mutation_p.R360H|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Missense_Mutation_p.R295H NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 362 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 TCTGGCTGTGCGGTTGCCCTT 0.522 NA 12 735 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16873368 16873368 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:16873368C>T uc001ioo.2 - 65 10463 c.10411G>A c.(10411-10413)GGA>AGA p.G3471R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3471 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCAGAGTTCCACAGTACTTG 0.373 NA 48 202 0 0 0 0 NEBL 10529 broad.mit.edu 37 10 21139422 21139422 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:21139422T>C uc001iqi.2 - 11 1415 c.1018A>G c.(1018-1020)AAA>GAA p.K340E NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 340 Nebulin 9. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TATTCTTCTTTATATTTCACC 0.318 NA 45 132 0 0 0 0 ZEB1 6935 broad.mit.edu 37 10 31810534 31810534 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:31810534G>C uc001ivs.3 + 7 2334 c.2271G>C c.(2269-2271)CAG>CAC p.Q757H ZEB1_uc001ivr.3_Missense_Mutation_p.Q539H|ZEB1_uc010qee.1_Missense_Mutation_p.Q539H|ZEB1_uc010qef.1_Missense_Mutation_p.Q539H|ZEB1_uc009xlj.1_Missense_Mutation_p.Q683H|ZEB1_uc010qeg.1_Missense_Mutation_p.Q616H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q539H|ZEB1_uc001ivt.3_Missense_Mutation_p.Q539H|ZEB1_uc001ivu.3_Missense_Mutation_p.Q758H|ZEB1_uc001ivv.3_Missense_Mutation_p.Q737H|ZEB1_uc010qeh.1_Missense_Mutation_p.Q690H|ZEB1_uc009xlo.1_Missense_Mutation_p.Q740H|ZEB1_uc009xlp.2_Missense_Mutation_p.Q741H NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 757 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GTGTTTACCAGAACAGTGTTT 0.418 NA 58 92 0 0 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32128565 32128565 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:32128565T>C uc001ivz.1 - 8 1641 c.1371A>G c.(1369-1371)ACA>ACG p.T457T ARHGAP12_uc001ivy.1_Silent_p.T408T|ARHGAP12_uc009xls.2_Silent_p.T408T|ARHGAP12_uc001iwb.1_Silent_p.T455T|ARHGAP12_uc001iwc.1_Intron|ARHGAP12_uc009xlq.1_Intron|ARHGAP12_uc001iwd.1_Intron|ARHGAP12_uc009xlr.1_Silent_p.T455T NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 457 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TCATACTAACTGTATCTTGGT 0.328 NA 32 73 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505229 37505229 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:37505229G>A uc001iza.1 + 32 2921 c.2822G>A c.(2821-2823)TGT>TAT p.C941Y NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 997 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAGAAGTTTTGTGTACTGAAA 0.353 NA 25 103 0 0 0 0 A1CF 29974 broad.mit.edu 37 10 52570857 52570857 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:52570857C>G uc001jjj.2 - 11 1615 c.1427G>C c.(1426-1428)AGA>ACA p.R476T A1CF_uc010qhn.1_Missense_Mutation_p.R476T|A1CF_uc001jji.2_Missense_Mutation_p.R468T|A1CF_uc001jjh.2_Missense_Mutation_p.R476T|A1CF_uc010qho.1_Missense_Mutation_p.R484T|A1CF_uc009xov.2_Missense_Mutation_p.R468T NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 476 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 GAATAGCTGTCTTTGGTCTTG 0.388 NA 15 67 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 56106239 56106239 + Silent SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:56106239A>T uc001jju.1 - 6 875 c.480T>A c.(478-480)ACT>ACA p.T160T PCDH15_uc010qhq.1_Silent_p.T165T|PCDH15_uc010qhr.1_Silent_p.T160T|PCDH15_uc010qhs.1_Silent_p.T165T|PCDH15_uc010qht.1_Silent_p.T160T|PCDH15_uc010qhu.1_Silent_p.T160T|PCDH15_uc001jjv.1_Silent_p.T138T|PCDH15_uc010qhv.1_Silent_p.T160T|PCDH15_uc010qhw.1_Silent_p.T160T|PCDH15_uc010qhx.1_Silent_p.T160T|PCDH15_uc010qhy.1_Silent_p.T165T|PCDH15_uc010qhz.1_Silent_p.T160T|PCDH15_uc010qia.1_Silent_p.T138T|PCDH15_uc010qib.1_Silent_p.T138T|PCDH15_uc001jjw.2_Silent_p.T160T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 160 Extracellular (Potential).|Cadherin 2. 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) TACCAACTGGAGTGAGCTGAA 0.333 NA HNSCC(58;0.16) 34 185 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 56138617 56138617 + Silent SNP C C A rs151119732 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:56138617C>A uc001jju.1 - 4 638 c.243G>T c.(241-243)GTG>GTT p.V81V PCDH15_uc010qhq.1_Silent_p.V86V|PCDH15_uc010qhr.1_Silent_p.V81V|PCDH15_uc010qhs.1_Silent_p.V86V|PCDH15_uc010qht.1_Silent_p.V81V|PCDH15_uc010qhu.1_Silent_p.V81V|PCDH15_uc001jjv.1_Silent_p.V59V|PCDH15_uc010qhv.1_Silent_p.V81V|PCDH15_uc010qhw.1_Silent_p.V81V|PCDH15_uc010qhx.1_Silent_p.V81V|PCDH15_uc010qhy.1_Silent_p.V86V|PCDH15_uc010qhz.1_Silent_p.V81V|PCDH15_uc010qia.1_Silent_p.V59V|PCDH15_uc010qib.1_Silent_p.V59V|PCDH15_uc001jjw.2_Silent_p.V81V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 81 Cadherin 1.|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) CCCAGTAATCCACATTATCCT 0.433 NA HNSCC(58;0.16) 80 221 4.04e-35 5.37e-35 1 0 C10orf58 84293 broad.mit.edu 37 10 82187166 82187166 + Nonsense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:82187166C>T uc001kcc.3 + 5 650 c.490C>T c.(490-492)CGA>TGA p.R164* C10orf58_uc001kcd.3_Nonsense_Mutation_p.R153*|C10orf58_uc001kce.3_Nonsense_Mutation_p.R164*|C10orf58_uc001kcf.3_Nonsense_Mutation_p.R164* NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 164 extracellular region 0 Colorectal(32;0.229) CAACTTCTTCCGAGCCTGGAA 0.488 NA 22 167 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 107022247 107022247 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:107022247T>C uc001kyi.1 + 26 3829 c.3602T>C c.(3601-3603)ATA>ACA p.I1201T NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1201 Cytoplasmic (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACGCGGGTCATAGGTACATGC 0.542 NA 25 63 0 0 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114205170 114205170 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:114205170T>C uc001kzv.2 - 2 449 c.25A>G c.(25-27)AAG>GAG p.K9E VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.K9E|ZDHHC6_uc009xya.1_Missense_Mutation_p.K9E|VTI1A_uc001kzx.2_5'Flank NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 9 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TTTTCAAACTTGATAACCGAA 0.398 NA 3 88 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 117884808 117884808 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:117884808C>G uc001lcj.2 - 6 1392 c.694G>C c.(694-696)GTG>CTG p.V232L GFRA1_uc001lci.2_Missense_Mutation_p.V227L|GFRA1_uc009xyr.2_Missense_Mutation_p.V227L NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 232 2 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) TAGGAGCACACAGGCACGATG 0.562 NA 32 73 0 0 0 0 TH 7054 broad.mit.edu 37 11 2189385 2189385 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:2189385G>T uc001lvq.2 - 5 624 c.605C>A c.(604-606)TCA>TAA p.S202* TH_uc001lvp.2_Nonsense_Mutation_p.S198*|TH_uc001lvr.2_Nonsense_Mutation_p.S171*|TH_uc010qxj.1_Nonsense_Mutation_p.S175*|TH_uc001lvs.2_Nonsense_Mutation_p.S171*|TH_uc001lvt.2_Nonsense_Mutation_p.S175*|TH_uc009ydh.1_RNA NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 202 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) GTCCAGCTCTGACACTTTTCT 0.597 NA 25 57 2.8e-10 3.33e-10 1 0 OR52I2 143502 broad.mit.edu 37 11 4608360 4608360 + Silent SNP G G C rs149411057 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:4608360G>C uc010qyh.1 + 1 318 c.318G>C c.(316-318)TCG>TCC p.S106S NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 106 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCCTCCTCGGTGGTACCCA 0.493 NA 68 204 0 0 0 0 OR10A5 144124 broad.mit.edu 37 11 6867339 6867339 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:6867339G>T uc001met.1 + 1 426 c.426G>T c.(424-426)CGG>CGT p.R142R NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAAGGACACGGGCCAAACTGG 0.537 NA 16 194 2.35e-11 2.84e-11 1 0 OR10A5 144124 broad.mit.edu 37 11 6867357 6867357 + Silent SNP T T C rs145237850 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:6867357T>C uc001met.1 + 1 444 c.444T>C c.(442-444)GCT>GCC p.A148A NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCTGCTGCTTCCTGGTTCC 0.527 NA 12 157 0 0 0 0 OR10A2 341276 broad.mit.edu 37 11 6891366 6891366 + Silent SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:6891366T>A uc001meu.1 + 1 381 c.381T>A c.(379-381)ACT>ACA p.T127T NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 127 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCAAAGGACTCGTGCCAAAC 0.537 NA 7 235 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 20939793 20939793 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:20939793A>G uc001mqe.2 + 6 822 c.669A>G c.(667-669)CTA>CTG p.L223L NELL1_uc001mqf.2_Silent_p.L223L|NELL1_uc009yid.2_Silent_p.L251L|NELL1_uc010rdo.1_Silent_p.L166L|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 223 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GTCCAAATCTAAATCACAGTA 0.343 NA 65 101 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 21581766 21581766 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:21581766C>T uc001mqe.2 + 17 1971 c.1818C>T c.(1816-1818)ACC>ACT p.T606T NELL1_uc001mqf.2_Silent_p.T559T|NELL1_uc009yid.2_Silent_p.T634T|NELL1_uc010rdo.1_Silent_p.T549T|NELL1_uc010rdp.1_Silent_p.T319T|NELL1_uc001mqh.2_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 606 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GAACTCACACCTGTTGGAACG 0.502 NA 66 130 0 0 0 0 SLC17A6 57084 broad.mit.edu 37 11 22360160 22360160 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:22360160C>G uc001mqk.2 + 1 494 c.81C>G c.(79-81)ATC>ATG p.I27M NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 27 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TCGGCCAGATCTACAGGTAAG 0.453 NA 15 32 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33375104 33375104 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:33375104C>A uc001mul.1 + 17 3908 c.3638C>A c.(3637-3639)CCA>CAA p.P1213Q HIPK3_uc001mum.1_Missense_Mutation_p.P1192Q|HIPK3_uc009yjv.1_Missense_Mutation_p.P1192Q NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 1213 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 AGCCAGTATCCATATATGTGA 0.353 NA 51 57 2.28e-18 2.91e-18 1 0 ALX4 60529 broad.mit.edu 37 11 44297071 44297071 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:44297071A>G uc001myb.2 - 2 708 c.604T>C c.(604-606)TTG>CTG p.L202L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 202 hair follicle development 0 GCCTTCTCCAATGGGCTGGGG 0.617 NA 93 178 0 0 0 0 LRP4 4038 broad.mit.edu 37 11 46896618 46896618 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:46896618G>A uc001ndn.3 - 28 4108 c.3962C>T c.(3961-3963)TCC>TTC p.S1321F NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1321 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GCAGAGGTGGGAGCAGCCGCC 0.547 NA 13 28 0 0 0 0 OR4C16 219428 broad.mit.edu 37 11 55339627 55339628 + Nonsense_Mutation DNP TG TG CT TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:55339627_55339628TG>CT uc010rih.1 + 1 24_25 c.24_25TG>CT c.(22-27)ACTGAG>ACCTAG p.E9* NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) ATAATGTGACTGAGTTCATTCT 0.376 NA 5 115 0 0 0 0 OR5M3 219482 broad.mit.edu 37 11 56237559 56237559 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:56237559A>G uc010rjk.1 - 1 415 c.415T>C c.(415-417)TGT>CGT p.C139R NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AGTCGAATACAGACAACCCTT 0.398 NA 67 130 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59190426 59190426 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:59190426T>C uc010rkt.1 - 1 1 c.1A>G c.(1-3)ATG>GTG p.M1V NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTACAGCCATAGGCCTGCTT 0.378 NA 77 182 0 0 0 0 PITPNM1 9600 broad.mit.edu 37 11 67261436 67261436 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:67261436G>A uc001olx.2 - 19 3154 c.2965C>T c.(2965-2967)CGC>TGC p.R989C PITPNM1_uc001olw.2_Missense_Mutation_p.R271C|PITPNM1_uc001oly.2_Missense_Mutation_p.R989C|PITPNM1_uc001olz.2_Missense_Mutation_p.R988C NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 989 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 CCCAGCGCGCGTTCTGGGGGA 0.572 NA 9 20 0 0 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276971 71276971 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:71276971G>A uc001oqt.1 + 1 363 c.338G>A c.(337-339)GGC>GAC p.G113D NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 113 7 X 4 AA repeats of C-C-X-P. keratin filament skin(1) 1 TCCAAGGGGGGCTGTGGCTCC 0.657 NA 5 168 0 0 0 0 NARS2 79731 broad.mit.edu 37 11 78279726 78279726 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:78279726C>A uc001ozi.2 - 3 700 c.324G>T c.(322-324)GTG>GTT p.V108V NARS2_uc010rsq.1_5'UTR NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 108 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CCTTCAGTTCCACATTTTGCC 0.348 NA 53 117 1.63e-21 2.11e-21 1 0 DLG2 1740 broad.mit.edu 37 11 83673957 83673957 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:83673957C>A uc001paj.2 - 9 1299 c.996G>T c.(994-996)AAG>AAT p.K332N DLG2_uc001pai.2_Missense_Mutation_p.K281N|DLG2_uc010rsy.1_Missense_Mutation_p.K299N|DLG2_uc010rsz.1_Missense_Mutation_p.K332N|DLG2_uc010rta.1_Missense_Mutation_p.K332N|DLG2_uc001pak.2_Missense_Mutation_p.K437N|DLG2_uc010rtb.1_Missense_Mutation_p.K299N|DLG2_uc001pal.1_Missense_Mutation_p.K332N|DLG2_uc001pam.1_Missense_Mutation_p.K371N NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 332 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CAAGCATGTGCTTTGGAATTG 0.428 NA 73 189 1.14e-45 1.53e-45 1 0 GRM5 2915 broad.mit.edu 37 11 88386571 88386571 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:88386571A>T uc001pcq.2 - 3 1112 c.912T>A c.(910-912)AGT>AGA p.S304R GRM5_uc009yvm.2_Missense_Mutation_p.S304R NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 304 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CCCAGCCATCACTGTGGGGAA 0.433 NA 28 30 0 0 0 0 UBTFL1 642623 broad.mit.edu 37 11 89819194 89819194 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:89819194G>C uc010rub.1 + 1 77 c.77G>C c.(76-78)CGC>CCC p.R26P NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 26 multicellular organismal development cytoplasm|nucleus DNA binding 0 GAGAATAATCGCCCATCTGAT 0.418 NA 30 80 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92085313 92085313 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:92085313G>T uc001pdj.3 + 1 52 c.35G>T c.(34-36)CGG>CTG p.R12L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 12 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGGGCACACGGCCTCCTGCT 0.502 NA TCGA Ovarian(4;0.039) 11 85 9.31e-06 1.04e-05 1 0 FAT3 120114 broad.mit.edu 37 11 92086560 92086560 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:92086560C>A uc001pdj.3 + 1 1299 c.1282C>A c.(1282-1284)CTG>ATG p.L428M NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 428 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCGGTCGGGTCTGATTGTTAC 0.408 NA TCGA Ovarian(4;0.039) 9 20 1.59e-06 1.8e-06 1 0 CEP57 9702 broad.mit.edu 37 11 95564303 95564303 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:95564303G>A uc001pfp.1 + 11 1607 c.1386G>A c.(1384-1386)AAG>AAA p.K462K CEP57_uc010ruh.1_Silent_p.K453K|CEP57_uc010rui.1_Silent_p.K436K|CEP57_uc009ywn.1_Silent_p.K310K|CEP57_uc001pfq.1_Silent_p.K436K|CEP57_uc001pfr.1_Silent_p.K310K NM_014679 NP_055494 Q86XR8 CEP57_HUMAN translokin 462 Mediates interaction with microtubules (By similarity).|Potential. fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCACAAATAAGAAAGATTTTA 0.363 NA Mosaic_Variegated_Aneuploidy_Syndrome 9 60 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 100211321 100211321 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:100211321T>C uc001pga.2 + 22 3196 c.2857T>C c.(2857-2859)TAC>CAC p.Y953H CNTN5_uc001pgb.2_Missense_Mutation_p.Y879H|CNTN5_uc010ruk.1_Missense_Mutation_p.Y224H NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 953 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTGAGGGCTTACAATGGAGC 0.448 NA 9 26 0 0 0 0 KIAA1377 57562 broad.mit.edu 37 11 101863550 101863550 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:101863550A>G uc001pgm.2 + 10 3556 c.3286A>G c.(3286-3288)ACT>GCT p.T1096A KIAA1377_uc001pgn.2_Missense_Mutation_p.T1052A|KIAA1377_uc010run.1_Missense_Mutation_p.T897A NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 1096 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CATCAAAAATACTTTACAAAT 0.259 NA 6 27 0 0 0 0 MMP1 4312 broad.mit.edu 37 11 102663349 102663349 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:102663349G>A uc001phi.2 - 7 1163 c.1020C>T c.(1018-1020)GTC>GTT p.V340V uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.V274V NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 340 Hemopexin-like 2. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TGAAAAACCGGACTTCATCTC 0.388 NA 30 156 0 0 0 0 CADM1 23705 broad.mit.edu 37 11 115047259 115047259 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:115047259T>C uc001ppi.3 - 10 1393 c.1264A>G c.(1264-1266)ACA>GCA p.T422A CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Missense_Mutation_p.T394A|CADM1_uc001ppj.3_Missense_Mutation_p.T423A|CADM1_uc001pph.3_Missense_Mutation_p.T185A NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 422 Cytoplasmic (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) ATTATAGCTGTGTCTGCGTCT 0.463 NA 61 145 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120350888 120350888 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:120350888G>A uc001pxl.1 + 38 3993 c.3986G>A c.(3985-3987)CGG>CAG p.R1329Q ARHGEF12_uc009zat.2_Missense_Mutation_p.R1310Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1226Q NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1329 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TACAGTCCACGGACTTCAACT 0.448 NA T MLL AML 40 166 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124761403 124761403 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:124761403A>G uc001qbg.2 - 12 1880 c.1740T>C c.(1738-1740)ACT>ACC p.T580T ROBO4_uc010sas.1_Silent_p.T435T|ROBO4_uc001qbh.2_Silent_p.T470T|ROBO4_uc001qbi.2_Silent_p.T138T|ROBO4_uc010sat.1_Silent_p.T138T NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 580 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGCCATAAAAAGTGCTGGTGT 0.622 NA 17 55 0 0 0 0 CDON 50937 broad.mit.edu 37 11 125885306 125885306 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:125885306C>G uc009zbw.2 - 7 1156 c.1028G>C c.(1027-1029)TGT>TCT p.C343S CDON_uc001qdc.3_Missense_Mutation_p.C343S|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.C343S NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 343 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AAACCAGGTACAGTTGGGGGC 0.488 NA 11 85 0 0 0 0 ST14 6768 broad.mit.edu 37 11 130060396 130060396 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:130060396T>A uc001qfw.2 + 7 875 c.682T>A c.(682-684)TTC>ATC p.F228I ST14_uc010sca.1_Missense_Mutation_p.F38I NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 228 Extracellular (Potential).|CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCTGATGCGCTTCACCACGCC 0.697 NA 9 67 0 0 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48141546 48141546 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:48141546G>T uc009zkp.2 - 13 1736 c.1296C>A c.(1294-1296)GCC>GCA p.A432A RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_5'UTR|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.A432A|RAPGEF3_uc001rpz.3_Silent_p.A474A|RAPGEF3_uc001rqa.2_5'UTR NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 432 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) AGCCATACAGGGCCACCCACT 0.657 NA 7 45 2.74e-10 3.27e-10 1 0 ANP32D 23519 broad.mit.edu 37 12 48866821 48866821 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:48866821T>A uc010slt.1 + 1 374 c.374T>A c.(373-375)GTA>GAA p.V125E NM_012404 NP_036536 O95626 AN32D_HUMAN acidic nuclear phosphoprotein 32D 125 LRR 5. ovary(1)|central_nervous_system(1) 2 ACTTGCGAGGTAACCAACCTG 0.448 NA 18 95 0 0 0 0 SLC4A8 9498 broad.mit.edu 37 12 51834519 51834519 + Nonsense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:51834519C>T uc001rys.1 + 2 254 c.76C>T c.(76-78)CAG>TAG p.Q26* SLC4A8_uc010sni.1_5'UTR|SLC4A8_uc001rym.2_5'UTR|SLC4A8_uc001ryn.2_5'UTR|SLC4A8_uc001ryo.2_5'UTR|SLC4A8_uc001ryp.1_5'UTR|SLC4A8_uc010snj.1_Nonsense_Mutation_p.Q53*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.Q26*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.Q26*|SLC4A8_uc010snk.1_5'UTR NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 26 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TGTGGTGGATCAGGGTGGGAC 0.428 NA 22 83 0 0 0 0 MON2 23041 broad.mit.edu 37 12 62892803 62892803 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:62892803G>T uc001sre.2 + 5 931 c.540G>T c.(538-540)ATG>ATT p.M180I MON2_uc009zqj.2_Missense_Mutation_p.M180I|MON2_uc010ssl.1_Missense_Mutation_p.M108I|MON2_uc010ssm.1_Missense_Mutation_p.M180I|MON2_uc010ssn.1_Missense_Mutation_p.M180I|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Missense_Mutation_p.M72I NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 180 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTGAGAGGATGGTTGCTGAAG 0.378 NA 102 297 6.84e-50 9.22e-50 1 0 C12orf66 144577 broad.mit.edu 37 12 64588097 64588097 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:64588097G>A uc001srw.3 - 3 922 c.863C>T c.(862-864)ACG>ATG p.T288M C12orf66_uc009zql.2_Missense_Mutation_p.T235M NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 288 ovary(1) 1 TGCTGTCAACGTTTTCATTTC 0.393 NA 49 161 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66788009 66788009 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:66788009G>C uc001stk.2 - 16 2193 c.1952C>G c.(1951-1953)ACT>AGT p.T651S GRIP1_uc010sta.1_Missense_Mutation_p.T595S|GRIP1_uc001stj.2_Missense_Mutation_p.T433S|GRIP1_uc001stl.1_Missense_Mutation_p.T543S|GRIP1_uc001stm.2_Missense_Mutation_p.T651S NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 703 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCCCCTTTAGTGAGGCTTGA 0.433 NA 67 192 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 73056937 73056937 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:73056937G>T uc001sxa.2 + 19 3067 c.3037G>T c.(3037-3039)GAG>TAG p.E1013* NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 1013 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTACCAAGACGAGCTTTTCCA 0.393 NA 21 65 4.4e-07 5.04e-07 1 0 TRHDE 29953 broad.mit.edu 37 12 73056946 73056946 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:73056946C>A uc001sxa.2 + 19 3076 c.3046C>A c.(3046-3048)CAA>AAA p.Q1016K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 1016 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CGAGCTTTTCCAATGGTTAGG 0.398 NA 18 58 1.01e-13 1.24e-13 1 0 NAV3 89795 broad.mit.edu 37 12 78593221 78593221 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:78593221G>T uc001syp.2 + 37 6798 c.6625G>T c.(6625-6627)GAC>TAC p.D2209Y NAV3_uc001syo.2_Missense_Mutation_p.D2187Y|NAV3_uc010sub.1_Missense_Mutation_p.D1666Y|NAV3_uc009zsf.2_Missense_Mutation_p.D1018Y NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2209 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCGCAATAATGACCTAGTCAA 0.368 NA HNSCC(70;0.22) 35 111 1.42e-22 1.84e-22 1 0 TMTC3 160418 broad.mit.edu 37 12 88589095 88589095 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:88589095A>G uc001tau.2 + 14 2634 c.2414A>G c.(2413-2415)GAA>GGA p.E805G NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 806 integral to membrane binding skin(1) 1 CCACATGAAGAATATATTCAG 0.348 NA 57 125 0 0 0 0 C12orf63 374467 broad.mit.edu 37 12 97137303 97137303 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:97137303A>G uc001tet.1 + 20 2696 c.2618A>G c.(2617-2619)AAG>AGG p.K873R NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 873 skin(6)|ovary(1) 7 CTACAAGAAAAGCATTTAAAG 0.433 NA 3 135 0 0 0 0 ANKS1B 56899 broad.mit.edu 37 12 99194841 99194842 + Missense_Mutation DNP GG GG TT TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:99194841_99194842GG>TT uc001tge.1 - 20 3545_3546 c.3128_3129CC>AA c.(3127-3129)ACC>AAA p.T1043K ANKS1B_uc001tgf.1_Missense_Mutation_p.T559K|ANKS1B_uc001tgk.2_Missense_Mutation_p.T340K|ANKS1B_uc010svd.1_Missense_Mutation_p.T49K|ANKS1B_uc001tgd.1_Missense_Mutation_p.T209K|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.T73K|ANKS1B_uc001tgh.3_Missense_Mutation_p.T49K|ANKS1B_uc001tgi.2_Missense_Mutation_p.T293K|ANKS1B_uc009ztr.2_Missense_Mutation_p.T233K|ANKS1B_uc001tgj.2_Missense_Mutation_p.T209K|ANKS1B_uc009ztp.2_Missense_Mutation_p.T74K|ANKS1B_uc010svf.1_Missense_Mutation_p.T73K|ANKS1B_uc001tgg.3_Missense_Mutation_p.T141K|ANKS1B_uc010svg.1_Missense_Mutation_p.T178K|ANKS1B_uc009zts.1_Missense_Mutation_p.T269K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 1043 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACTGTACCGGGGTAGAGGCTGT 0.46 NA 7 14 0 0 0 0 MYBPC1 4604 broad.mit.edu 37 12 102043145 102043145 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:102043145C>A uc001tii.2 + 13 1331 c.1229C>A c.(1228-1230)GCT>GAT p.A410D MYBPC1_uc001tif.1_Missense_Mutation_p.A423D|MYBPC1_uc001tig.2_Missense_Mutation_p.A435D|MYBPC1_uc010svq.1_Missense_Mutation_p.A397D|MYBPC1_uc001tih.2_Missense_Mutation_p.A435D|MYBPC1_uc001tij.2_Missense_Mutation_p.A410D|MYBPC1_uc010svr.1_Missense_Mutation_p.A410D|MYBPC1_uc010svs.1_Missense_Mutation_p.A410D|MYBPC1_uc010svt.1_Missense_Mutation_p.A398D|MYBPC1_uc010svu.1_Missense_Mutation_p.A391D|MYBPC1_uc001tik.2_Missense_Mutation_p.A384D NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 410 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 AAGGCTGATGCTGCAGAATAT 0.393 NA 26 176 1.56e-22 2.03e-22 1 0 CUX2 23316 broad.mit.edu 37 12 111747976 111747976 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:111747976C>A uc001tsa.1 + 15 1543 c.1390C>A c.(1390-1392)CTG>ATG p.L464M NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 464 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCAGCCCCTGCTGGGCCCCAG 0.687 NA 7 18 0.000274275 0.000294007 1 0 TPCN1 53373 broad.mit.edu 37 12 113730845 113730845 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:113730845G>T uc001tuw.2 + 26 2517 c.2220G>T c.(2218-2220)CTG>CTT p.L740L TPCN1_uc001tux.2_Silent_p.L812L|TPCN1_uc010syu.1_5'Flank NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 740 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TCACCAGGCTGCTGGAGACCC 0.612 NA 12 40 5.51e-06 6.16e-06 1 0 COX6A1 1337 broad.mit.edu 37 12 120876216 120876216 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:120876216G>T uc001tyf.1 + 2 164 c.138G>T c.(136-138)GCG>GCT p.A46A NM_004373 NP_004364 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 46 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTTCGTCGCGCTCCCCGGGG 0.627 NA 38 100 2.76e-19 3.53e-19 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184858 130184858 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:130184858G>T uc009zyl.1 - 2 793 c.465C>A c.(463-465)GAC>GAA p.D155E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 155 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGTCGTCCCAGTCTCTGCCCA 0.602 NA 15 28 1.05e-09 1.25e-09 1 0 PXMP2 5827 broad.mit.edu 37 12 133266848 133266848 + Splice_Site SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr12:133266848G>A uc001ukt.2 + 2 188 c.123_splice c.e2-1 p.S41_splice POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_Splice_Site NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa integral to membrane|peroxisomal membrane protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CCTCTCCACAGTGGCATTTTG 0.517 NA 38 113 0 0 0 0 ATP12A 479 broad.mit.edu 37 13 25265203 25265203 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr13:25265203G>T uc001upp.2 + 8 1070 c.883G>T c.(883-885)GAG>TAG p.E295* ATP12A_uc010aaa.2_Nonsense_Mutation_p.E301* NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 295 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGTTGGAAATGAGAAGACGCC 0.517 NA 36 76 2.76e-19 3.53e-19 1 0 CCNA1 8900 broad.mit.edu 37 13 37015288 37015288 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr13:37015288C>G uc001uvr.3 + 7 1482 c.1132C>G c.(1132-1134)CCA>GCA p.P378A CCNA1_uc010teo.1_Missense_Mutation_p.P334A|CCNA1_uc010abq.2_Missense_Mutation_p.P334A|CCNA1_uc010abp.2_Missense_Mutation_p.P334A|CCNA1_uc001uvs.3_Missense_Mutation_p.P377A|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 378 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGAAGCAGATCCATTCTTGAA 0.398 NA 41 70 0 0 0 0 ZIC2 7546 broad.mit.edu 37 13 100637292 100637292 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr13:100637292G>A uc001von.2 + 2 1168 c.1168G>A c.(1168-1170)GAT>AAT p.D390N NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 390 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCACACCTCCGATAAGCCCTA 0.627 NA 47 48 0 0 0 0 OR11H12 440153 broad.mit.edu 37 14 19377681 19377681 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:19377681C>A uc010tkp.1 + 1 88 c.88C>A c.(88-90)CAA>AAA p.Q30K NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 30 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTATACTCCAAGGTTTCAC 0.413 NA 70 187 7.07e-35 9.4e-35 1 0 POTEG 404785 broad.mit.edu 37 14 19553736 19553736 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:19553736C>A uc001vuz.1 + 1 372 c.320C>A c.(319-321)CCC>CAC p.P107H POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 107 ovary(1) 1 CACTGCTTCCCCTGCTGCAGG 0.602 NA 23 589 3.04e-20 3.92e-20 1 0 OR4L1 122742 broad.mit.edu 37 14 20528872 20528872 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:20528872C>A uc001vwn.1 + 1 669 c.669C>A c.(667-669)GTC>GTA p.V223V NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCATCCTGGTCAGTGTACCAA 0.438 NA 58 180 2.42e-19 3.1e-19 1 0 CHD8 57680 broad.mit.edu 37 14 21863125 21863125 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:21863125C>A uc001was.1 - 30 4593 c.4499G>T c.(4498-4500)CGT>CTT p.R1500L CHD8_uc001war.1_Missense_Mutation_p.R1396L|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1779 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGCTTCACAACGCCGCCTTCG 0.498 NA 30 55 3.99e-17 5.05e-17 1 0 CMTM5 116173 broad.mit.edu 37 14 23846490 23846490 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:23846490G>A uc010akm.2 + 1 474 c.30G>A c.(28-30)CGG>CGA p.R10R CMTM5_uc001wjs.2_Silent_p.R10R|CMTM5_uc001wjt.2_Silent_p.R10R|CMTM5_uc010akn.2_Silent_p.R10R|CMTM5_uc001wju.2_Silent_p.R10R|CMTM5_uc010ako.2_RNA NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 10 chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GCCGGGACCGGCACCCTGAGG 0.602 NA 4 161 0 0 0 0 MIPOL1 145282 broad.mit.edu 37 14 37777652 37777652 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:37777652G>A uc001wuc.2 + 10 1259 c.756G>A c.(754-756)AAG>AAA p.K252K MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Silent_p.K221K|MIPOL1_uc001wud.2_Silent_p.K252K|MIPOL1_uc010ams.2_Silent_p.K252K|MIPOL1_uc001wue.2_Silent_p.K221K|MIPOL1_uc010amt.2_Silent_p.K71K NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 252 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ACAAGACCAAGGAATGTAAAA 0.368 NA 46 138 0 0 0 0 KTN1 3895 broad.mit.edu 37 14 56114744 56114744 + Missense_Mutation SNP A A C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:56114744A>C uc001xcb.2 + 21 2511 c.2209A>C c.(2209-2211)ATT>CTT p.I737L KTN1_uc001xce.2_Missense_Mutation_p.I737L|KTN1_uc001xcc.2_Missense_Mutation_p.I737L|KTN1_uc001xcd.2_Missense_Mutation_p.I737L|KTN1_uc010trb.1_Missense_Mutation_p.I737L|KTN1_uc001xcf.1_Missense_Mutation_p.I737L|KTN1_uc010aoq.2_Missense_Mutation_p.I32L NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 737 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TAATTTCAGCATTCAAGAAAA 0.229 NA T RET papillary thryoid 10 63 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64630120 64630120 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:64630120G>C uc001xgm.2 + 89 16530 c.16300G>C c.(16300-16302)GAG>CAG p.E5434Q SYNE2_uc001xgl.2_Missense_Mutation_p.E5434Q|SYNE2_uc010apy.2_Missense_Mutation_p.E1819Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E396Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5434 Potential.|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) TCTTCTGCAGGAGCTGCAGCA 0.493 NA 25 86 0 0 0 0 C14orf166B 145497 broad.mit.edu 37 14 77327047 77327047 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:77327047G>T uc001xsx.2 + 11 1230 c.1116G>T c.(1114-1116)GTG>GTT p.V372V C14orf166B_uc010asn.1_Silent_p.V132V|C14orf166B_uc001xsw.2_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 372 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) ACGTGCTGGTGTCCGAGCAGT 0.577 NA 16 73 1.03e-11 1.24e-11 1 0 PRIMA1 145270 broad.mit.edu 37 14 94187810 94187810 + Missense_Mutation SNP C C T rs140016687 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:94187810C>T uc001ybw.1 - 5 484 c.442G>A c.(442-444)GTG>ATG p.V148M PRIMA1_uc001ybx.1_RNA NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 precursor 148 Cytoplasmic (Potential). neurotransmitter catabolic process cell junction|integral to membrane|synapse large_intestine(1)|skin(1) 2 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GCGTTGTTCACGTCTACTCCT 0.572 NA 13 55 0 0 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033433 95033433 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr14:95033433G>A uc001ydk.2 + 3 842 c.776G>A c.(775-777)AGA>AAA p.R259K SERPINA4_uc010avd.2_Missense_Mutation_p.R296K|SERPINA4_uc001ydl.2_Missense_Mutation_p.R259K NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 259 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CTTCATGACAGATACTTGCCC 0.488 NA 30 74 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23811560 23811561 + Missense_Mutation DNP CC CC AA TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:23811560_23811561CC>AA uc001ywh.3 + 1 1107_1108 c.631_632CC>AA c.(631-633)CCC>AAC p.P211N MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P211N NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 211 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCCAGGGCAGCCCTACCGGGGC 0.599 NA 12 46 0 0 0 0 GABRB3 2562 broad.mit.edu 37 15 26806266 26806266 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:26806266G>T uc001zaz.2 - 8 1035 c.893C>A c.(892-894)CCC>CAC p.P298H GABRB3_uc010uae.1_Missense_Mutation_p.P213H|GABRB3_uc001zba.2_Missense_Mutation_p.P298H|GABRB3_uc001zbb.2_Missense_Mutation_p.P354H NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 298 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGGATTTTGGGCAAGGTCTC 0.468 NA 34 125 2.42e-17 3.07e-17 1 0 FSIP1 161835 broad.mit.edu 37 15 39909940 39909940 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:39909940T>C uc001zki.2 - 11 1913 c.1695A>G c.(1693-1695)ATA>ATG p.I565M NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 565 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) CCTCACCTGCTATTGTATTCT 0.388 NA 60 143 0 0 0 0 CATSPER2 117155 broad.mit.edu 37 15 43927951 43927951 + Silent SNP G G A rs144799666 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:43927951G>A uc001zsh.2 - 9 1310 c.1095C>T c.(1093-1095)GAC>GAT p.D365D CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.D365D|CATSPER2_uc001zsj.2_Silent_p.D365D NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 365 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTTGAACATGTCAGCTTTGA 0.488 NA 21 45 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44941067 44941067 + Silent SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:44941067T>A uc001ztx.2 - 7 1630 c.1599A>T c.(1597-1599)CTA>CTT p.L533L SPG11_uc010ueh.1_Silent_p.L533L|SPG11_uc010uei.1_Silent_p.L533L|SPG11_uc001zua.1_Silent_p.L533L NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 533 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CTGTTACCTCTAGTGCATGTA 0.363 NA 47 108 0 0 0 0 SLC28A2 9153 broad.mit.edu 37 15 45557355 45557355 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:45557355T>A uc001zva.2 + 8 836 c.771T>A c.(769-771)TTT>TTA p.F257L NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 257 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGGATGTCTTTGCTTTTCAGG 0.438 NA 9 246 0 0 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302916 58302916 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:58302916C>T uc002aex.2 - 4 482 c.424G>A c.(424-426)GGC>AGC p.G142S ALDH1A2_uc002aey.2_Missense_Mutation_p.G142S|ALDH1A2_uc010ugv.1_Missense_Mutation_p.G121S|ALDH1A2_uc010ugw.1_Missense_Mutation_p.G113S|ALDH1A2_uc002aew.2_Missense_Mutation_p.G46S NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 142 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTGATGACGCCCTGCAAATCC 0.433 NA 36 95 0 0 0 0 WDR73 84942 broad.mit.edu 37 15 85197483 85197483 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:85197483A>T uc002bkw.2 - 1 39 c.23T>A c.(22-24)CTG>CAG p.L8Q WDR73_uc002bkv.2_5'Flank|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.L8Q NM_032856 NP_116245 Q6P4I2 WDR73_HUMAN WD repeat domain 73 8 0 GGATTCCACCAGCCAGTCGTC 0.677 NA 34 136 0 0 0 0 NTRK3 4916 broad.mit.edu 37 15 88472661 88472661 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr15:88472661G>A uc002bme.1 - 16 2056 c.1894C>T c.(1894-1896)CAT>TAT p.H632Y NTRK3_uc002bmh.2_Missense_Mutation_p.H624Y|NTRK3_uc002bmf.1_Missense_Mutation_p.H632Y|NTRK3_uc010upl.1_Missense_Mutation_p.H534Y|NTRK3_uc010bnh.1_Missense_Mutation_p.H624Y NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 632 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTGGCCCATGGGCCCTGCAA 0.488 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 10 34 0 0 0 0 HBA2 3040 broad.mit.edu 37 16 223546 223546 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:223546C>A uc002cfv.3 + 3 442 c.376C>A c.(376-378)CTG>ATG p.L126M HBA2_uc002cfw.2_Intron NM_000517 NP_000508 P69905 HBA_HUMAN alpha 2 globin 126 L -> R (in Plasencia; family with moderate microcytosis and hypochromia).|L -> P (in Quong Sze; causes alpha- thalassemia). hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) GCACGCCTCCCTGGACAAGTT 0.652 NA OREG0003686 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 25 3.88e-16 4.88e-16 1 0 UBE2I 7329 broad.mit.edu 37 16 1374785 1374785 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:1374785G>T uc002clc.1 + 7 572 c.468G>T c.(466-468)GCG>GCT p.A156A UBE2I_uc002cld.1_Silent_p.A156A|UBE2I_uc002clf.1_Silent_p.A156A|UBE2I_uc002clg.1_Silent_p.A156A NM_194261 NP_919237 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 156 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|skin(1) 2 Hepatocellular(780;0.00369) AGAAGTTTGCGCCCTCATAAG 0.473 NA 14 55 2.46e-09 2.91e-09 1 0 ZNF597 146434 broad.mit.edu 37 16 3487033 3487033 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:3487033G>A uc002cvd.2 - 4 850 c.666C>T c.(664-666)CGC>CGT p.R222R NM_152457 NP_689670 Q96LX8 ZN597_HUMAN zinc finger protein 597 222 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGTGCTGGCGAAAGCTGG 0.473 NA 80 194 0 0 0 0 TFAP4 7023 broad.mit.edu 37 16 4310219 4310219 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:4310219G>A uc010uxg.1 - 6 948 c.694C>T c.(694-696)CAC>TAC p.H232Y NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 232 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 ACCGTGGGGTGGTGGGTGGGG 0.617 NA 26 39 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9892263 9892263 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:9892263C>G uc002czo.3 - 11 2775 c.2227G>C c.(2227-2229)GAA>CAA p.E743Q GRIN2A_uc010uym.1_Missense_Mutation_p.E743Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.E586Q|GRIN2A_uc002czr.3_Missense_Mutation_p.E743Q NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 743 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGCAGCCTTCATCCCTCCCA 0.537 NA 23 87 0 0 0 0 ACSM1 116285 broad.mit.edu 37 16 20682863 20682863 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:20682863A>G uc002dhm.1 - 4 810 c.742T>C c.(742-744)TTC>CTC p.F248L ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.F248L NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 248 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 CTTCCTGGGAAGGAGGGTTGT 0.438 NA 36 76 0 0 0 0 EEF2K 29904 broad.mit.edu 37 16 22271842 22271842 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:22271842A>T uc002dki.2 + 11 1776 c.1291A>T c.(1291-1293)AAC>TAC p.N431Y EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 431 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TCATCTAGACAACCACCGGGT 0.547 NA 55 193 0 0 0 0 ITGAX 3687 broad.mit.edu 37 16 31373420 31373420 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr16:31373420G>A uc002ebu.1 + 11 1178 c.1111G>A c.(1111-1113)GGG>AGG p.G371R ITGAX_uc002ebt.2_Missense_Mutation_p.G371R|ITGAX_uc010vfk.1_Missense_Mutation_p.G21R NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 371 FG-GAP 3.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGGGGCTGTGGGGAGCTTCAC 0.567 NA 82 252 0 0 0 0 TSR1 55720 broad.mit.edu 37 17 2238908 2238908 + Silent SNP C C T rs139241652 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:2238908C>T uc002fuj.2 - 3 1275 c.318G>A c.(316-318)AGG>AGA p.R106R SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 106 ribosome assembly nucleolus protein binding ovary(1) 1 TTCCAGTGTCCCTATCTTGAA 0.542 NA 4 153 0 0 0 0 OR1D2 4991 broad.mit.edu 37 17 2995854 2995854 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:2995854G>A uc010vrb.1 - 1 437 c.437C>T c.(436-438)TCC>TTC p.S146F NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 146 Helical; Name=4; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CCAACACAAGGAAAGGAGTAA 0.522 NA 38 50 0 0 0 0 ATP2A3 489 broad.mit.edu 37 17 3844430 3844430 + Silent SNP C C T rs139395876 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:3844430C>T uc002fxb.1 - 14 2086 c.1935G>A c.(1933-1935)ACG>ACA p.T645T ATP2A3_uc002fwx.1_Silent_p.T645T|ATP2A3_uc002fwy.1_Silent_p.T645T|ATP2A3_uc002fwz.1_Silent_p.T645T|ATP2A3_uc002fxa.1_Silent_p.T645T|ATP2A3_uc002fxc.1_Silent_p.T645T|ATP2A3_uc002fxd.1_Silent_p.T645T NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 645 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCACGTCTTCCGTGTCCCCAA 0.682 NA 14 86 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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) 34 36 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10429179 10429179 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:10429179T>A uc010coi.2 - 31 4330 c.4202A>T c.(4201-4203)CAG>CTG p.Q1401L uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1401L|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1401 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGCAGCCGCTGGGCCAGCTT 0.473 NA 14 70 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11515024 11515024 + Missense_Mutation SNP G G T rs141141277 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:11515024G>T uc002gne.2 + 4 899 c.831G>T c.(829-831)ATG>ATT p.M277I DNAH9_uc002gnd.1_Missense_Mutation_p.M277I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 277 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGAGGGGCATGGCCAAGCTCC 0.443 NA 87 66 1.72e-36 2.29e-36 1 0 MAP2K3 5606 broad.mit.edu 37 17 21207776 21207776 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:21207776C>T uc002gys.2 + 8 872 c.607C>T c.(607-609)CAT>TAT p.H203Y MAP2K3_uc002gyt.2_Missense_Mutation_p.H174Y|MAP2K3_uc002gyu.2_Missense_Mutation_p.H174Y NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 203 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAAGGAGGGCCATGTGAAGAT 0.582 NA 12 108 0 0 0 0 C17orf63 55731 broad.mit.edu 37 17 27085474 27085474 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:27085474G>T uc002hct.1 - 3 1770 c.1503C>A c.(1501-1503)GGC>GGA p.G501G C17orf63_uc010wax.1_Silent_p.G501G|C17orf63_uc010way.1_Silent_p.G501G|C17orf63_uc002hcw.2_Silent_p.G373G NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 501 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) CCACTGGACCGCCCCCGGTCC 0.632 NA 34 67 6.01e-18 7.66e-18 1 0 GPR179 440435 broad.mit.edu 37 17 36483635 36483635 + Silent SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:36483635T>A uc002hpz.2 - 11 5838 c.5817A>T c.(5815-5817)ACA>ACT p.T1939T NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1939 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGAATTCTTCTGTGTCTGCAG 0.498 NA 28 97 0 0 0 0 ERBB2 2064 broad.mit.edu 37 17 37879629 37879629 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:37879629G>T uc002hso.2 + 17 2242 c.2004G>T c.(2002-2004)GGG>GGT p.G668G ERBB2_uc002hsm.2_Silent_p.G638G|ERBB2_uc010cwa.2_Silent_p.G653G|ERBB2_uc002hsp.2_Silent_p.G471G|ERBB2_uc010cwb.2_Silent_p.G668G|ERBB2_uc010wek.1_Silent_p.G392G NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 668 Helical; (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGGTCTTGGGGGTGGTCTTTG 0.607 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 49 147 3.22e-24 4.21e-24 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253804 39253804 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:39253804A>T uc010wfo.1 - 1 572 c.533T>A c.(532-534)GTG>GAG p.V178E NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 178 keratin filament 0 GGCGCAGCACACGGGGCGGGG 0.547 NA 2 2 0 0 0 0 KRT33A 3883 broad.mit.edu 37 17 39502482 39502482 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:39502482G>A uc002hwk.1 - 7 1141 c.1104C>T c.(1102-1104)CCC>CCT p.P368P NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 368 Tail. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) AGGGGTTGGAGGGGAGCCTGT 0.488 NA 12 129 0 0 0 0 CNTD1 124817 broad.mit.edu 37 17 40951132 40951132 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:40951132A>G uc002ibm.3 + 1 279 c.47A>G c.(46-48)CAG>CGG p.Q16R CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.2_5'Flank|CNTD1_uc010wha.1_Intron NM_173478 NP_775749 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 16 central_nervous_system(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) GTTGACTTTCAGTTTGGAGTT 0.607 NA 3 70 0 0 0 0 RUNDC1 146923 broad.mit.edu 37 17 41141370 41141370 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:41141370G>C uc002ici.1 + 3 682 c.670G>C c.(670-672)GAG>CAG p.E224Q RUNDC1_uc010whi.1_5'UTR NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 224 Potential. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GATCATAGATGAGTTAATAAA 0.433 NA 22 56 0 0 0 0 RUNDC1 146923 broad.mit.edu 37 17 41141510 41141510 + Silent SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:41141510G>C uc002ici.1 + 3 822 c.810G>C c.(808-810)CTG>CTC p.L270L RUNDC1_uc010whi.1_Silent_p.L40L NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 270 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TTGAGCAACTGAAAACTCAGA 0.478 NA 35 85 0 0 0 0 C17orf57 124989 broad.mit.edu 37 17 45481247 45481247 + Nonsense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:45481247T>A uc002iln.2 + 19 2432 c.2021T>A c.(2020-2022)TTA>TAA p.L674* C17orf57_uc002ilm.2_Nonsense_Mutation_p.L578* NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 674 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TTTATAGAGTTACAGGAAGTT 0.343 NA 34 115 0 0 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48601147 48601147 + Splice_Site SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:48601147T>A uc010wmr.1 + 12 1926 c.1764_splice c.e12+2 p.E588_splice MYCBPAP_uc002iqz.2_Splice_Site NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GTACTGGAGGTAAGGGACCCA 0.532 NA 15 49 0 0 0 0 MMD 23531 broad.mit.edu 37 17 53471830 53471830 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:53471830G>A uc002iui.2 - 7 867 c.582C>T c.(580-582)TTC>TTT p.F194F NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 194 Helical; (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 CACTCTTGAAGAACACAACTC 0.453 NA 26 89 0 0 0 0 SEPT9 10801 broad.mit.edu 37 17 75488797 75488797 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:75488797G>C uc002jts.3 + 9 1601 c.1475G>C c.(1474-1476)CGG>CCG p.R492P SEPT9_uc010wtk.1_Missense_Mutation_p.R473P|SEPT9_uc002jtt.3_Missense_Mutation_p.R328P|SEPT9_uc002jtu.3_Missense_Mutation_p.R474P|SEPT9_uc002jtv.2_Missense_Mutation_p.R485P|SEPT9_uc002jtw.2_Missense_Mutation_p.R328P|SEPT9_uc010wtl.1_Missense_Mutation_p.R268P|SEPT9_uc002jty.3_Missense_Mutation_p.R241P|SEPT9_uc010wtm.1_Missense_Mutation_p.R241P|SEPT9_uc010wtn.1_Missense_Mutation_p.R241P|SEPT9_uc010dhd.2_Missense_Mutation_p.R380P NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 492 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) GAGAAGTTCCGGGTGAGTGGA 0.557 NA 59 170 0 0 0 0 RPTOR 57521 broad.mit.edu 37 17 78820280 78820280 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr17:78820280C>T uc002jyt.1 + 11 2025 c.1220C>T c.(1219-1221)CCG>CTG p.P407L RPTOR_uc010wuf.1_Missense_Mutation_p.P222L|RPTOR_uc010wug.1_Missense_Mutation_p.P407L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 407 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CAGCACAGCCCGTTCTTCGCC 0.632 NA 5 166 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6980533 6980533 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:6980533T>A uc002knm.2 - 42 6088 c.5994A>T c.(5992-5994)AGA>AGT p.R1998S LAMA1_uc010wzj.1_Missense_Mutation_p.R1474S NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1998 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGGAATTGCTCTAAGTATCA 0.373 NA 25 62 0 0 0 0 PTPRM 5797 broad.mit.edu 37 18 8069752 8069752 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:8069752G>C uc002knn.3 + 8 1704 c.1201G>C c.(1201-1203)GAG>CAG p.E401Q PTPRM_uc010dkv.2_Missense_Mutation_p.E401Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E188Q NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 401 Fibronectin type-III 2.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TATCCGCTGGGAGCCATTTGG 0.418 NA 20 56 0 0 0 0 NPC1 4864 broad.mit.edu 37 18 21136302 21136302 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:21136302G>A uc002kum.3 - 8 1505 c.1231C>T c.(1231-1233)CGG>TGG p.R411W NPC1_uc010xaz.1_Missense_Mutation_p.R212W|NPC1_uc010xba.1_Missense_Mutation_p.R256W NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 411 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAGGGGCCCGGATGATGAGC 0.552 NA 10 52 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22806498 22806498 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:22806498C>T uc002kvk.2 - 4 1631 c.1384G>A c.(1384-1386)GCT>ACT p.A462T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A462T|ZNF521_uc002kvl.2_Missense_Mutation_p.A242T NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 462 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGGTCCTGAGCTTCATGCACT 0.463 NA T PAX5 ALL 22 53 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25585919 25585919 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:25585919C>T uc002kwg.2 - 6 1200 c.741G>A c.(739-741)GTG>GTA p.V247V CDH2_uc010xbn.1_Silent_p.V216V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 247 Cadherin 1.|Extracellular (Potential). 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 TGGGGTTCTCCACTTGATTTC 0.368 NA 64 129 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50278744 50278744 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:50278744G>T uc002lfe.1 + 2 999 c.412G>T c.(412-414)GGA>TGA p.G138* DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 138 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCAGTAGCAGGTAGGTGGAT 0.308 NA 20 50 6.33e-15 7.87e-15 1 0 CNDP1 84735 broad.mit.edu 37 18 72247436 72247436 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:72247436T>C uc002llq.2 + 10 1449 c.1238T>C c.(1237-1239)CTA>CCA p.L413P CNDP1_uc002lls.2_Missense_Mutation_p.L216P NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 413 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TCCATGACTCTAGGACTACAC 0.423 NA 26 43 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77246597 77246597 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr18:77246597C>T uc010xfg.1 + 9 2895 c.2442C>T c.(2440-2442)CCC>CCT p.P814P NFATC1_uc002lnd.2_Silent_p.P814P|NFATC1_uc002lne.2_Silent_p.P342P|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P342P|NFATC1_uc002lnf.2_Silent_p.P801P|NFATC1_uc002lng.2_Silent_p.P801P|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 814 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCGGCTCGCCCGGGCAGCCAC 0.751 NA 3 16 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2109208 2109208 + Splice_Site SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:2109208T>C uc002luz.2 - 28 3388 c.3165_splice c.e28-1 p.S1055_splice AP3D1_uc010dsv.2_Splice_Site_p.S145_splice|AP3D1_uc002luy.2_Splice_Site_p.S1014_splice|AP3D1_uc002lva.2_Splice_Site_p.S1117_splice NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 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) AAGGCGTCACTGTGGGAGGGA 0.582 NA 72 167 0 0 0 0 DOT1L 84444 broad.mit.edu 37 19 2226522 2226522 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:2226522T>C uc002lvb.3 + 27 4038 c.4002T>C c.(4000-4002)GGT>GGC p.G1334G DOT1L_uc002lvc.1_Silent_p.G628G NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1334 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TCAGTGATGGTGCTTCTCTTC 0.701 NA 6 55 0 0 0 0 PLIN4 729359 broad.mit.edu 37 19 4504669 4504669 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:4504669C>T uc002mar.1 - 6 3876 c.3876G>A c.(3874-3876)CGG>CGA p.R1292R PLIN4_uc010dub.1_Silent_p.R316R NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 1292 lipid particle|plasma membrane 0 AGAGGCTGTGCCGCGCCCGCC 0.701 NA 3 6 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6913820 6913820 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:6913820G>T uc002mfw.2 + 11 1317 c.1279G>T c.(1279-1281)GCT>TCT p.A427S EMR1_uc010dvc.2_Missense_Mutation_p.A427S|EMR1_uc010dvb.2_Missense_Mutation_p.A375S|EMR1_uc010xji.1_Missense_Mutation_p.A286S|EMR1_uc010xjj.1_Missense_Mutation_p.A250S NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 427 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TATCACTCCGGCTGTTCGGAC 0.498 NA 52 188 7.38e-41 9.87e-41 1 0 KIAA1543 57662 broad.mit.edu 37 19 7676418 7676418 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:7676418C>T uc002mgv.3 + 10 1240 c.1139C>T c.(1138-1140)TCC>TTC p.S380F KIAA1543_uc002mgu.3_Missense_Mutation_p.S407F NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 380 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CTGAAGTCTTCCCCGTCCATG 0.642 NA 4 49 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8138159 8138159 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:8138159C>A uc002mjf.2 - 61 7746 c.7725G>T c.(7723-7725)TCG>TCT p.S2575S FBN3_uc002mje.2_Silent_p.S371S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2575 EGF-like 43; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AGGTGGGGGGCGACAGGGCAC 0.657 NA 5 52 0.00116845 0.00122852 1 0 OR7D4 125958 broad.mit.edu 37 19 9324750 9324750 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:9324750C>A uc002mla.1 - 1 764 c.764G>T c.(763-765)GGA>GTA p.G255V NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GACCCCAAGTCCTGTTCCATA 0.537 NA 19 85 5.35e-07 6.13e-07 1 0 SMARCA4 6597 broad.mit.edu 37 19 11144078 11144078 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:11144078A>G uc002mqf.3 + 26 3943 c.3659A>G c.(3658-3660)TAC>TGC p.Y1220C SMARCA4_uc010dxp.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxo.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxq.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxr.2_Missense_Mutation_p.Y1220C|SMARCA4_uc002mqj.3_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxs.2_Missense_Mutation_p.Y1220C|SMARCA4_uc010dxt.1_Missense_Mutation_p.Y440C|SMARCA4_uc002mqh.3_Missense_Mutation_p.Y343C|SMARCA4_uc002mqi.1_Missense_Mutation_p.Y423C NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1220 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCAGCCAAGTACAAGCTCAAC 0.632 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 24 130 0 0 0 0 ZNF429 353088 broad.mit.edu 37 19 21720875 21720875 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:21720875G>T uc002nqd.1 + 4 2157 c.2020G>T c.(2020-2022)GGC>TGC p.G674C ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 agaccgtcctggctaacatgg 0.02 NA 3 18 0.004672 0.00487777 1 0 ZNF43 7594 broad.mit.edu 37 19 21992324 21992324 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:21992324T>G uc002nqj.2 - 4 645 c.515A>C c.(514-516)AAA>ACA p.K172T ZNF43_uc010ecv.2_Missense_Mutation_p.K166T|ZNF43_uc002nql.2_Missense_Mutation_p.K166T|ZNF43_uc002nqm.2_Missense_Mutation_p.K166T|ZNF43_uc002nqk.2_Missense_Mutation_p.K102T NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTTGAAAAGTTTTTTTTCAGT 0.313 NA 4 61 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363959 22363959 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:22363959T>C uc002nqs.1 - 3 878 c.560A>G c.(559-561)TAT>TGT p.Y187C NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 187 C2H2-type 1; degenerate. TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AATACTCTTATAATAAGTAAG 0.338 NA 28 158 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22939865 22939865 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:22939865T>C uc010xrh.1 - 6 2466 c.2466A>G c.(2464-2466)CTA>CTG p.L822L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TAGTATGAATTAGCTTATGTT 0.373 NA 27 147 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039729 31039729 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:31039729T>C uc002nsu.1 + 4 3341 c.3203T>C c.(3202-3204)ATG>ACG p.M1068T ZNF536_uc010edd.1_Missense_Mutation_p.M1068T NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1068 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTCTCCAATATGATCAGCTCT 0.562 NA 24 108 0 0 0 0 GPI 2821 broad.mit.edu 37 19 34887334 34887334 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:34887334A>T uc002nvg.1 + 13 1294 c.1191A>T c.(1189-1191)CAA>CAT p.Q397H GPI_uc002nvf.2_Missense_Mutation_p.Q436H|GPI_uc010xrv.1_Missense_Mutation_p.Q408H|GPI_uc010xrw.1_Missense_Mutation_p.Q369H|GPI_uc010edl.1_Missense_Mutation_p.Q397H|GPI_uc002nvi.1_Missense_Mutation_p.Q60H NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 397 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) TCATCCACCAAGGTAGGCCCC 0.567 NA 44 108 0 0 0 0 FFAR1 2864 broad.mit.edu 37 19 35842987 35842987 + Missense_Mutation SNP C C G rs143187042 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:35842987C>G uc002nzc.2 + 1 543 c.533C>G c.(532-534)TCT>TGT p.S178C NM_005303 NP_005294 O14842 FFAR1_HUMAN free fatty acid receptor 1 178 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1) 1 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GACCCGGCCTCTGCCGGCCCG 0.677 NA 11 70 0 0 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572979 38572979 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:38572979G>T uc002ohk.2 + 3 1283 c.774G>T c.(772-774)AAG>AAT p.K258N NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 258 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCGGAGCCAAGGGGGACTCCC 0.721 NA 9 21 9.7e-10 1.15e-09 1 0 ZNF526 116115 broad.mit.edu 37 19 42730364 42730364 + Silent SNP A A G rs145952747 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:42730364A>G uc002osz.1 + 3 1965 c.1809A>G c.(1807-1809)CTA>CTG p.L603L NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) CTTTGACGCTACAGCCTCCCA 0.617 NA 25 104 0 0 0 0 LILRB3 11025 broad.mit.edu 37 19 54723084 54723084 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:54723084C>G uc002qef.1 - 8 1451 c.1340G>C c.(1339-1341)GGG>GCG p.G447A LILRB3_uc002qee.1_Missense_Mutation_p.G447A|LILRB3_uc002qeh.1_Missense_Mutation_p.G447A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.G447A|LILRA6_uc002qek.1_Missense_Mutation_p.G447A|LILRB3_uc010erh.1_Missense_Mutation_p.G464A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.G447A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G447A|LILRB3_uc002qep.1_Missense_Mutation_p.G447A|LILRB3_uc002qeq.1_Missense_Mutation_p.G447A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.G447A NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 447 Helical; (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity p.G447R(1) skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACCGAGACCCCAATCAAAAC 0.343 NA 7 12 0 0 0 0 LILRA4 23547 broad.mit.edu 37 19 54849458 54849458 + Nonsense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:54849458G>C uc002qfj.2 - 4 461 c.404C>G c.(403-405)TCA>TGA p.S135* LILRA4_uc002qfi.2_Nonsense_Mutation_p.S69* NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 135 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTTCACTCCTGAGGTCACCAC 0.582 NA 10 95 0 0 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565248 58565248 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:58565248C>A uc002qrc.1 + 6 1303 c.1056C>A c.(1054-1056)CCC>CCA p.P352P NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 352 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGAAAGCCCCCCGGAGCAAGG 0.662 NA 11 65 1.59e-06 1.8e-06 1 0 A1BG 1 broad.mit.edu 37 19 58864486 58864486 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:58864486G>A uc002qsd.3 - 3 210 c.148C>T c.(148-150)CAG>TAG p.Q50* NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_Intron NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 50 Ig-like V-type 1. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) AGGTGGGCCTGGCACGTCAGC 0.592 NA 94 96 0 0 0 0 SOX11 6664 broad.mit.edu 37 2 5832931 5832931 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:5832931C>T uc002qyj.2 + 1 133 c.78C>T c.(76-78)TTC>TTT p.F26F NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 26 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) AGGGCGAATTCATGGCTTGCA 0.657 NA 5 18 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15567910 15567910 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:15567910C>A uc002rcc.1 - 22 2374 c.2348G>T c.(2347-2349)GGT>GTT p.G783V NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 783 ovary(2)|liver(1)|skin(1) 4 CAGGGAGTCACCGTTAAAACT 0.398 NA 6 27 0.00116845 0.00122852 1 0 AGBL5 60509 broad.mit.edu 37 2 27281352 27281352 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:27281352C>T uc002rie.2 + 10 1973 c.1756C>T c.(1756-1758)CTT>TTT p.L586F AGBL5_uc002rid.2_Missense_Mutation_p.L586F|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 586 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACAGCAGCCTTACTAATCT 0.557 NA 47 115 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32770763 32770763 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:32770763G>T uc010ezu.2 + 63 12780 c.12646G>T c.(12646-12648)GTC>TTC p.V4216F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4216 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) TCCTTTCCACGTCCTTCGTAG 0.413 NA 92 286 1.12e-47 1.51e-47 1 0 SIX2 10736 broad.mit.edu 37 2 45233600 45233600 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:45233600A>G uc002ruo.2 - 2 878 c.585T>C c.(583-585)TCT>TCC p.S195S SIX2_uc002rup.2_Silent_p.S197S NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 195 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGGCTGTTAGAATTGGAGT 0.587 NA 21 185 0 0 0 0 ALMS1 7840 broad.mit.edu 37 2 73747023 73747023 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:73747023A>G uc002sje.1 + 13 9775 c.9664A>G c.(9664-9666)AAT>GAT p.N3222D ALMS1_uc002sjf.1_Missense_Mutation_p.N3178D|ALMS1_uc002sjg.2_Missense_Mutation_p.N2608D|ALMS1_uc002sjh.1_Missense_Mutation_p.N2608D|ALMS1_uc010fev.1_Missense_Mutation_p.N37D NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3220 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GATTTTTATTAATGCTGAAGA 0.403 NA 28 179 0 0 0 0 NAT8B 51471 broad.mit.edu 37 2 73927774 73927774 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:73927774G>A uc002sjk.1 - 3 694 c.659C>T c.(658-660)CCT>CTT p.P220L NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 220 gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 CTGAGCAGAAGGGAGGTGATA 0.358 NA 12 35 0 0 0 0 THNSL2 55258 broad.mit.edu 37 2 88482287 88482287 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:88482287T>A uc002ssz.3 + 6 1025 c.872T>A c.(871-873)ATC>AAC p.I291N THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.I291N|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.I133N|THNSL2_uc002ssy.3_Missense_Mutation_p.I291N|THNSL2_uc010fhe.2_Missense_Mutation_p.I133N NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 291 threonine biosynthetic process threonine synthase activity ovary(1) 1 AATGACATCATCCACAGGACT 0.507 NA 31 98 0 0 0 0 LYG1 129530 broad.mit.edu 37 2 99909015 99909015 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:99909015G>T uc002szy.2 - 4 382 c.132C>A c.(130-132)CAC>CAA p.H44Q MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.H44Q NM_174898 NP_777558 Q8N1E2 LYG1_HUMAN lysozyme g-like protein 1 precursor 44 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity 0 AGTTCAGGCCGTGACGTCTTC 0.517 NA 26 115 2.42e-17 3.07e-17 1 0 MFSD9 84804 broad.mit.edu 37 2 103335339 103335339 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:103335339C>T uc002tcb.2 - 6 1033 c.965G>A c.(964-966)GGC>GAC p.G322D MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 322 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 GATGAGGTAGCCTGTCACCTT 0.607 NA 14 73 0 0 0 0 CYP27C1 339761 broad.mit.edu 37 2 127957114 127957114 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:127957114G>A uc002tod.2 - 4 521 c.390C>T c.(388-390)AGC>AGT p.S130S NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 130 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CATGAATTTGGCCTGTTTGAA 0.463 NA 23 31 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136374308 136374308 + Missense_Mutation SNP A A C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:136374308A>C uc002tuo.2 + 5 654 c.284A>C c.(283-285)GAG>GCG p.E95A R3HDM1_uc010fni.2_Missense_Mutation_p.E93A|R3HDM1_uc002tup.2_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 95 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CCTGCACCAGAGATATCACAG 0.368 NA 9 26 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141032117 141032117 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:141032117C>T uc002tvj.1 - 85 13990 c.13018G>A c.(13018-13020)GAT>AAT p.D4340N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4340 Extracellular (Potential).|EGF-like 13. 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) ACACTTCCATCATCCCCAATG 0.403 NA TSP Lung(27;0.18) 58 66 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141108504 141108504 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:141108504T>A uc002tvj.1 - 77 12726 c.11754A>T c.(11752-11754)GAA>GAT p.E3918D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3918 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) TTGAATTATGTTCAATATGAG 0.338 NA TSP Lung(27;0.18) 107 120 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160084427 160084427 + Nonsense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:160084427T>A uc002uag.2 + 25 4275 c.4001T>A c.(4000-4002)TTA>TAA p.L1334* TANC1_uc010zcm.1_Nonsense_Mutation_p.L1326*|TANC1_uc010fom.1_Nonsense_Mutation_p.L1140*|TANC1_uc010fon.2_Nonsense_Mutation_p.L178* NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1334 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TTCAATGAATTAAGGGTTTCC 0.458 NA 72 65 0 0 0 0 KLHL23 151230 broad.mit.edu 37 2 170598005 170598005 + Missense_Mutation SNP G G A rs140221414 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:170598005G>A uc002ufh.1 + 5 1662 c.1324G>A c.(1324-1326)GAT>AAT p.D442N KLHL23_uc002ufi.1_Missense_Mutation_p.D442N NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 442 Kelch 4. 0 CTACAATTCCGATATCAACGA 0.433 NA 12 122 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179582426 179582426 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:179582426G>T uc010zfg.1 - 84 21667 c.21443C>A c.(21442-21444)TCT>TAT p.S7148Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3809Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8075 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) CTTGTACCAAGACACTTGAAG 0.413 NA 29 41 7.26e-15 9.01e-15 1 0 COL5A2 1290 broad.mit.edu 37 2 189927938 189927938 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:189927938T>A uc002uqk.2 - 27 2104 c.1829A>T c.(1828-1830)CAG>CTG p.Q610L COL5A2_uc010frx.2_Missense_Mutation_p.Q186L NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 610 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCTCCCGGGCTGCCCTCTGAT 0.527 NA 37 253 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196759837 196759837 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:196759837A>G uc002utj.3 - 30 4860 c.4759T>C c.(4759-4761)TTC>CTC p.F1587L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1587 AAA 2 (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 TCGGAAAAGAATGCAGTCATT 0.373 NA 45 60 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210558740 210558740 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:210558740G>C uc002vde.1 + 7 2094 c.1846G>C c.(1846-1848)GGT>CGT p.G616R MAP2_uc002vdc.1_Missense_Mutation_p.G616R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G612R NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 616 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GCATAAAAATGGTGACAAGGA 0.443 NA 30 65 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215891574 215891574 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:215891574C>T uc002vew.2 - 10 1370 c.1150G>A c.(1150-1152)GTG>ATG p.V384M ABCA12_uc002vev.2_Missense_Mutation_p.V66M|ABCA12_uc010zjn.1_Translation_Start_Site NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 384 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGTCAGTCACATTTCTCACA 0.388 NA 104 217 0 0 0 0 SCG2 7857 broad.mit.edu 37 2 224462778 224462778 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:224462778C>G uc002vnm.2 - 2 1356 c.1223G>C c.(1222-1224)AGG>ACG p.R408T NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 408 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAGAGCATCCTATTTTGGAA 0.512 NA 67 70 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225651808 225651808 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:225651808T>C uc010fwz.1 - 50 5825 c.5586A>G c.(5584-5586)AAA>AAG p.K1862K DOCK10_uc002vob.2_Silent_p.K1856K|DOCK10_uc002voa.2_Silent_p.K518K|DOCK10_uc002voc.2_Silent_p.K683K NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1862 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCTCTGCCACTTTCAGATATG 0.428 NA 82 87 0 0 0 0 AGFG1 3267 broad.mit.edu 37 2 228337216 228337216 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:228337216C>G uc002vpc.2 + 1 329 c.79C>G c.(79-81)CGA>GGA p.R27G AGFG1_uc002vpd.2_Missense_Mutation_p.R27G|AGFG1_uc002vpe.2_Missense_Mutation_p.R27G|AGFG1_uc002vpf.2_Missense_Mutation_p.R27G NM_004504 NP_004495 P52594 AGFG1_HUMAN HIV-1 Rev binding protein isoform 2 27 Arf-GAP. cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 CCCGCACAACCGAAAGTGCTT 0.662 NA 13 11 0 0 0 0 BPI 671 broad.mit.edu 37 20 36954720 36954720 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr20:36954720C>A uc002xib.2 + 10 1121 c.1059C>A c.(1057-1059)ACC>ACA p.T353T NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 353 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CAGCCTCCACCCCGCCACACC 0.557 NA 22 33 5.45e-15 6.8e-15 1 0 ZNF334 55713 broad.mit.edu 37 20 45131697 45131697 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr20:45131697T>C uc002xsc.2 - 5 465 c.281A>G c.(280-282)GAT>GGT p.D94G ZNF334_uc002xsa.2_Missense_Mutation_p.D117G|ZNF334_uc002xsb.2_Missense_Mutation_p.D56G|ZNF334_uc002xsd.2_Missense_Mutation_p.D56G|ZNF334_uc010ghl.2_Missense_Mutation_p.D93G NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CAAATGTTTATCTTGGATTTC 0.338 NA 42 36 0 0 0 0 COL20A1 57642 broad.mit.edu 37 20 61943100 61943100 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr20:61943100C>A uc011aau.1 + 13 1763 c.1663C>A c.(1663-1665)CCC>ACC p.P555T COL20A1_uc011aav.1_Missense_Mutation_p.P376T NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 555 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) TGCCAGGACCCGTGAGTGCTC 0.692 NA 5 7 0.00116845 0.00122852 1 0 TPTE 7179 broad.mit.edu 37 21 10934071 10934071 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr21:10934071G>C uc002yip.1 - 16 1274 c.906C>G c.(904-906)ATC>ATG p.I302M TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I284M|TPTE_uc002yir.1_Missense_Mutation_p.I264M|TPTE_uc010gkv.1_Missense_Mutation_p.I164M NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 302 Phosphatase tensin-type. 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) CATCAATCATGATTCTAACGA 0.313 NA 41 280 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10952935 10952935 + Missense_Mutation SNP T T C rs146617486 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr21:10952935T>C uc002yip.1 - 9 630 c.262A>G c.(262-264)ATT>GTT p.I88V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I70V|TPTE_uc002yir.1_Missense_Mutation_p.I50V|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 88 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) GATGATACAATTGAATGCACA 0.224 NA 19 154 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11058268 11058268 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr21:11058268C>T uc002yit.1 - 3 380 c.172G>A c.(172-174)GTA>ATA p.V58I BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 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) CATCTGGGTACATTTCTCTTC 0.423 NA 7 317 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26422890 26422890 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:26422890C>A uc003abz.1 + 43 7200 c.6950C>A c.(6949-6951)GCT>GAT p.A2317D MYO18B_uc003aca.1_Missense_Mutation_p.A2198D|MYO18B_uc010guy.1_Missense_Mutation_p.A2199D|MYO18B_uc010guz.1_Missense_Mutation_p.A2197D|MYO18B_uc011aka.1_Missense_Mutation_p.A1471D|MYO18B_uc011akb.1_Missense_Mutation_p.A1830D|MYO18B_uc010gva.1_Missense_Mutation_p.A300D|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2317 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GAAGGGGCCGCTGGTGGTCTC 0.587 NA 24 68 1.66e-10 1.98e-10 1 0 SLC5A4 6527 broad.mit.edu 37 22 32625260 32625260 + Missense_Mutation SNP C C T rs144357030 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:32625260C>T uc003ami.2 - 11 1203 c.1201G>A c.(1201-1203)GCC>ACC p.A401T NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 401 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 AGGGTGCTGGCGCTGTTGAAG 0.577 NA 58 145 0 0 0 0 CYTH4 27128 broad.mit.edu 37 22 37708147 37708147 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:37708147C>A uc003arf.2 + 12 1160 c.1044C>A c.(1042-1044)GGC>GGA p.G348G CYTH4_uc011amw.1_Silent_p.G291G|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 348 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TGGTGGAGGGCAAGCACGAAT 0.627 NA 13 65 0.000151284 0.000163852 1 0 APOBEC3D 140564 broad.mit.edu 37 22 39421332 39421332 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:39421332T>C uc011aoe.1 + 3 522 c.468T>C c.(466-468)CGT>CGC p.R156R APOBEC3D_uc011aod.1_Silent_p.R156R|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.R156R|APOBEC3D_uc010gxu.2_Intron NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 156 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) CAGGGGCCCGTGTGAAGATCA 0.592 NA 39 48 0 0 0 0 MGAT3 4248 broad.mit.edu 37 22 39883967 39883967 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:39883967G>A uc003axv.3 + 2 854 c.615G>A c.(613-615)CCG>CCA p.P205P MGAT3_uc010gxy.2_Silent_p.P205P NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 205 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) GGGAGGTGCCGCGCCGCGTCA 0.677 NA 6 16 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656953 50656953 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:50656953C>T uc003bkb.1 - 22 5430 c.4918G>A c.(4918-4920)GCG>ACG p.A1640T TUBGCP6_uc003bka.1_Missense_Mutation_p.A727T|TUBGCP6_uc010har.1_Missense_Mutation_p.A1632T|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1640 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCCTTGAGCGCCCACATCATG 0.652 NA 14 75 0 0 0 0 CNTN4 152330 broad.mit.edu 37 3 2778011 2778011 + Silent SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:2778011A>T uc003bpc.2 + 4 389 c.168A>T c.(166-168)CCA>CCT p.P56P CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P56P NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 56 Ig-like C2-type 1. 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) AAGGAAATCCAAAACCTCATA 0.338 NA 32 105 0 0 0 0 WNT7A 7476 broad.mit.edu 37 3 13916474 13916474 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:13916474G>A uc003bye.1 - 2 573 c.268C>T c.(268-270)CGC>TGC p.R90C NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 90 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 AAGACGGTGCGCTCTCCCAGT 0.582 NA 15 38 0 0 0 0 MYRIP 25924 broad.mit.edu 37 3 40275391 40275391 + Silent SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:40275391C>A uc003cka.2 + 12 2082 c.1947C>A c.(1945-1947)GTC>GTA p.V649V MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Intron|MYRIP_uc010hhw.2_Silent_p.V560V|MYRIP_uc011ayz.1_Silent_p.V462V|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 649 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CCACAGAAGTCCTGAAAGTCA 0.488 NA 26 81 3.01e-09 3.55e-09 1 0 STAB1 23166 broad.mit.edu 37 3 52558127 52558127 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:52558127T>C uc003dej.2 + 68 7628 c.7554T>C c.(7552-7554)GAT>GAC p.D2518D STAB1_uc003del.2_Silent_p.D430D NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2518 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGAAGATGATGCTGATGACG 0.617 NA 38 236 0 0 0 0 FAM19A1 407738 broad.mit.edu 37 3 68055801 68055801 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:68055801T>C uc003dnd.2 + 2 248 c.32T>C c.(31-33)CTG>CCG p.L11P FAM19A1_uc003dne.2_Missense_Mutation_p.L11P|FAM19A1_uc003dng.2_Missense_Mutation_p.L11P|FAM19A1_uc003dnf.1_RNA NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 11 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TCCTGGGTCCTGTATTTGTGG 0.522 NA 31 224 0 0 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433788 73433788 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:73433788G>A uc003dpl.1 - 10 2025 c.1929C>T c.(1927-1929)TGC>TGT p.C643C PDZRN3_uc011bgh.1_Silent_p.C300C|PDZRN3_uc010hoe.1_Silent_p.C341C|PDZRN3_uc011bgf.1_Silent_p.C360C|PDZRN3_uc011bgg.1_Silent_p.C363C NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 643 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGAAGCGCTCGCACTCGTCCA 0.657 NA 34 109 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77089996 77089996 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:77089996T>A uc003dpy.3 + 1 703 c.60T>A c.(58-60)GAT>GAA p.D20E ROBO2_uc003dpz.2_Missense_Mutation_p.D20E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D20E NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 20 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTCGGGTTGATGGTAAGTTAA 0.363 NA 31 229 0 0 0 0 OR5K2 402135 broad.mit.edu 37 3 98217106 98217106 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:98217106C>T uc011bgx.1 + 1 582 c.582C>T c.(580-582)ATC>ATT p.I194I NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 ACCCTTTCATCAATGAACTGG 0.353 NA 204 360 0 0 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133831 119133831 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:119133831C>T uc003ecj.3 + 12 3587 c.3055C>T c.(3055-3057)CCT>TCT p.P1019S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1019 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GGCAGAGGCTCCTCCCAACCA 0.592 NA 21 95 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124438313 124438313 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:124438313C>T uc003ehg.2 + 60 9084 c.8957C>T c.(8956-8958)ACG>ATG p.T2986M KALRN_uc003ehk.2_Missense_Mutation_p.T1289M NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2985 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AACCAAGGGACGTAGCCATCT 0.483 NA 32 48 0 0 0 0 SLC41A3 54946 broad.mit.edu 37 3 125735640 125735640 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:125735640C>T uc003eij.2 - 7 1050 c.824G>A c.(823-825)AGC>AAC p.S275N SLC41A3_uc003eii.2_Missense_Mutation_p.S249N|SLC41A3_uc003eil.2_Missense_Mutation_p.S275N|SLC41A3_uc003eik.2_Missense_Mutation_p.S239N|SLC41A3_uc011bkh.1_Missense_Mutation_p.S158N|SLC41A3_uc010hsd.1_Missense_Mutation_p.S290N NM_001008485 NP_001008485 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 isoform 1 275 integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(114;0.167) GATGGGTGGGCTCTGCTTGGC 0.587 NA 4 122 0 0 0 0 CPNE4 131034 broad.mit.edu 37 3 131404769 131404769 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:131404769T>A uc003eok.2 - 6 976 c.541A>T c.(541-543)ATT>TTT p.I181F CPNE4_uc011blq.1_Missense_Mutation_p.I199F|CPNE4_uc003eol.2_Missense_Mutation_p.I199F|CPNE4_uc003eom.2_Missense_Mutation_p.I181F NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 181 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATACGAAAAATTTCCAGAAAT 0.383 NA 17 62 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134851723 134851723 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:134851723G>C uc003eqt.2 + 5 1349 c.1129G>C c.(1129-1131)GTG>CTG p.V377L EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 377 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGACGACAATGTGGAGTTTGT 0.617 NA 5 53 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123507 140123507 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:140123507T>C uc003etn.2 + 4 726 c.536T>C c.(535-537)CTG>CCG p.L179P CLSTN2_uc003etm.2_Missense_Mutation_p.L179P NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 179 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GACAGCATTCTGCAGGTGGAG 0.507 NA HNSCC(16;0.037) 40 143 0 0 0 0 XRN1 54464 broad.mit.edu 37 3 142141448 142141448 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:142141448C>T uc003eus.2 - 8 1010 c.943G>A c.(943-945)GTT>ATT p.V315I XRN1_uc003eut.2_Missense_Mutation_p.V315I|XRN1_uc003euu.2_Missense_Mutation_p.V315I|XRN1_uc003euv.1_Missense_Mutation_p.V176I|XRN1_uc003euw.2_Missense_Mutation_p.V315I|XRN1_uc011bnh.1_Missense_Mutation_p.V105I NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 315 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 AGGATGGTAACATATGTTCCA 0.358 NA 74 128 0 0 0 0 ATR 545 broad.mit.edu 37 3 142217599 142217599 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:142217599A>T uc003eux.3 - 32 5520 c.5398T>A c.(5398-5400)TGG>AGG p.W1800R NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1800 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTGACACTCCATGTTGTAGAT 0.378 NA Other_conserved_DNA_damage_response_genes 36 65 0 0 0 0 PLOD2 5352 broad.mit.edu 37 3 145828169 145828169 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:145828169T>G uc003evs.1 - 4 911 c.405A>C c.(403-405)AAA>AAC p.K135N PLOD2_uc011bnm.1_Missense_Mutation_p.K80N|PLOD2_uc003evr.1_Missense_Mutation_p.K135N NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 135 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) CAAAGACCACTTTGTGGTTTG 0.388 NA 39 117 0 0 0 0 CPB1 1360 broad.mit.edu 37 3 148558763 148558763 + Splice_Site SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:148558763G>T uc003ewl.2 + 5 497 c.474_splice c.e5+1 p.K158_splice NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CCTCCTGAAGGTAATCATTTT 0.443 NA 24 121 5.35e-11 6.44e-11 1 0 DHX36 170506 broad.mit.edu 37 3 154013097 154013097 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:154013097C>T uc003ezy.3 - 13 1662 c.1581G>A c.(1579-1581)CTG>CTA p.L527L DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Silent_p.L527L NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 527 Nuclear localization signal.|Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTGTAGGCATCAGTGAATGTA 0.303 NA 14 39 0 0 0 0 GPR149 344758 broad.mit.edu 37 3 154055728 154055728 + Silent SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:154055728T>A uc003faa.2 - 4 2056 c.1956A>T c.(1954-1956)CTA>CTT p.L652L NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 652 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGGAGTAACGTAGGGATGGAG 0.428 NA 77 251 0 0 0 0 MME 4311 broad.mit.edu 37 3 154859798 154859798 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:154859798T>G uc010hvr.1 + 11 1187 c.976T>G c.(976-978)TTC>GTC p.F326V MME_uc003fab.1_Missense_Mutation_p.F326V|MME_uc003fac.1_Missense_Mutation_p.F326V|MME_uc003fad.1_Missense_Mutation_p.F326V|MME_uc003fae.1_Missense_Mutation_p.F326V NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 326 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) CTGGTTGAATTTCACAAATGA 0.358 NA 58 133 0 0 0 0 RSRC1 51319 broad.mit.edu 37 3 158072664 158072664 + Missense_Mutation SNP A A C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:158072664A>C uc003fbt.2 + 6 661 c.550A>C c.(550-552)AAA>CAA p.K184Q RSRC1_uc011bou.1_Missense_Mutation_p.K126Q|RSRC1_uc003fbu.1_Missense_Mutation_p.K184Q|RSRC1_uc003fbv.2_Missense_Mutation_p.K126Q NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 184 Potential. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TGAACAGGCCAAAGCCAGACT 0.358 NA 6 30 0 0 0 0 PEX5L 51555 broad.mit.edu 37 3 179593166 179593166 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:179593166C>G uc003fki.1 - 6 735 c.605G>C c.(604-606)AGA>ACA p.R202T PEX5L_uc011bqd.1_Missense_Mutation_p.R159T|PEX5L_uc011bqe.1_Missense_Mutation_p.R10T|PEX5L_uc011bqf.1_Missense_Mutation_p.R94T|PEX5L_uc003fkj.1_Missense_Mutation_p.R167T|PEX5L_uc010hxd.1_Missense_Mutation_p.R200T|PEX5L_uc011bqg.1_Missense_Mutation_p.R178T|PEX5L_uc011bqh.1_Missense_Mutation_p.R143T NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 202 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGATCCAGTTCTAGATGAGGA 0.378 NA 43 202 0 0 0 0 CRYGS 1427 broad.mit.edu 37 3 186257301 186257301 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:186257301C>T uc003fqe.2 - 2 159 c.107G>A c.(106-108)CGC>CAC p.R36H CRYGS_uc003fqf.2_Missense_Mutation_p.R36H NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 36 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GGAGTTGCAGCGACTTAGGTA 0.463 NA 38 138 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20550181 20550181 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:20550181T>A uc003gpr.1 + 23 2620 c.2416T>A c.(2416-2418)TTA>ATA p.L806I SLIT2_uc003gps.1_Missense_Mutation_p.L798I NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 806 LRR 19. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GCTCCTCACCTTGTGAGTGTG 0.284 NA 28 72 0 0 0 0 GBA3 57733 broad.mit.edu 37 4 22694648 22694648 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:22694648C>A uc003gqp.3 + 1 101 c.10C>A c.(10-12)CCT>ACT p.P4T GBA3_uc010iep.2_Missense_Mutation_p.P4T NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 4 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CATGGCTTTCCCTGCAGGATT 0.527 NA 5 13 1.24e-05 1.38e-05 1 0 PCDH7 5099 broad.mit.edu 37 4 31144302 31144302 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:31144302G>T uc011bxx.1 + 3 4583 c.3575G>T c.(3574-3576)CGC>CTC p.R1192L PCDH7_uc011bxw.1_Missense_Mutation_p.R1145L NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 ATGGGTGACCGCAACAGAAAC 0.502 NA 18 139 1.56e-12 1.91e-12 1 0 SHISA3 152573 broad.mit.edu 37 4 42403085 42403085 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:42403085C>G uc003gwp.2 + 2 552 c.334C>G c.(334-336)CTG>GTG p.L112V NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 112 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 GTTCATCATCCTGGGCTCTGT 0.502 NA 78 235 0 0 0 0 GRXCR1 389207 broad.mit.edu 37 4 42964954 42964954 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:42964954A>T uc003gwt.2 + 2 430 c.430A>T c.(430-432)ACC>TCC p.T144S NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 144 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GATTTATACCACCTGCCTTCG 0.383 NA 58 250 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62897294 62897294 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:62897294T>C uc010ihh.2 + 20 3526 c.3353T>C c.(3352-3354)TTT>TCT p.F1118S LPHN3_uc003hcq.3_Missense_Mutation_p.F1118S|LPHN3_uc003hct.2_Missense_Mutation_p.F502S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1096 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 CAGGGAATGTTTATATTTATT 0.348 NA 22 106 0 0 0 0 TIGD2 166815 broad.mit.edu 37 4 90034966 90034966 + Missense_Mutation SNP A A C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:90034966A>C uc003hsk.2 + 1 999 c.841A>C c.(841-843)AAG>CAG p.K281Q FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 281 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) TTTGAAATCCAAGGGACTTTT 0.373 NA 21 89 0 0 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170592 90170592 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:90170592G>T uc003hsm.1 - 2 1189 c.670C>A c.(670-672)CAG>AAG p.Q224K NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 224 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) ATGGCTCCCTGCCTTTCCCCT 0.537 NA 41 80 4.14e-20 5.34e-20 1 0 SEC24B 10427 broad.mit.edu 37 4 110445990 110445990 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:110445990G>A uc003hzk.2 + 15 2580 c.2525G>A c.(2524-2526)GGC>GAC p.G842D SEC24B_uc003hzl.2_Missense_Mutation_p.G807D|SEC24B_uc011cfp.1_Missense_Mutation_p.G872D|SEC24B_uc011cfq.1_Missense_Mutation_p.G841D|SEC24B_uc011cfr.1_Missense_Mutation_p.G806D NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 842 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAACATCTTGGCCCTGCAACT 0.358 NA 35 113 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114278087 114278087 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:114278087C>T uc003ibe.3 + 38 8413 c.8313C>T c.(8311-8313)ATC>ATT p.I2771I ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.I73I|ANK2_uc011cgb.1_Silent_p.I2786I NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2738 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCCAAAAATCTGTGATGGCC 0.478 NA 21 86 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123113395 123113395 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:123113395G>C uc003ieh.2 + 9 958 c.913G>C c.(913-915)GAA>CAA p.E305Q KIAA1109_uc003iei.1_Missense_Mutation_p.E59Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 305 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ACTTGTTCCGGAAGAAACAGA 0.318 NA 14 53 0 0 0 0 IL21 59067 broad.mit.edu 37 4 123542011 123542011 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:123542011A>G uc003ies.2 - 1 201 c.156T>C c.(154-156)TAT>TAC p.Y52Y uc003iet.2_Intron|IL21_uc010int.2_Silent_p.Y45Y NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 45 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 AGTCATTCACATAATTTTTCA 0.343 NA 35 103 0 0 0 0 FGF2 2247 broad.mit.edu 37 4 123748456 123748456 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:123748456A>T uc003iev.1 + 1 594 c.526A>T c.(526-528)ATC>TTC p.I176F NM_002006 NP_001997 P09038 FGF2_HUMAN fibroblast growth factor 2 176 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|lung(1)|central_nervous_system(1) 3 Pentosan Polysulfate(DB00686) CTTCCTGCGCATCCACCCCGA 0.667 NA 18 49 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126238150 126238150 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:126238150G>T uc003ifj.3 + 1 584 c.584G>T c.(583-585)GGC>GTC p.G195V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 195 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AACCCGAGCGGCGAGGGAGCG 0.642 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 41 0.000673444 0.000714549 1 0 PCDH18 54510 broad.mit.edu 37 4 138452014 138452014 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:138452014G>A uc003ihe.3 - 1 1616 c.1229C>T c.(1228-1230)ACA>ATA p.T410I PCDH18_uc003ihf.3_Missense_Mutation_p.T403I|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.T190I|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 410 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GTTTTCATATGTCTTCTGAAG 0.393 NA 31 150 0 0 0 0 ELF2 1998 broad.mit.edu 37 4 139981705 139981705 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:139981705A>G uc003ihp.1 - 8 1100 c.894T>C c.(892-894)GAT>GAC p.D298D ELF2_uc003ihm.1_Silent_p.D250D|ELF2_uc003ihn.1_Silent_p.D238D|ELF2_uc003iho.1_Silent_p.D221D|ELF2_uc011chc.1_Silent_p.D113D NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 310 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) TTCCTGCTAAATCTTCATTAC 0.393 NA 48 211 0 0 0 0 ZNF330 27309 broad.mit.edu 37 4 142155086 142155086 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:142155086G>T uc003iiq.3 + 10 1126 c.906G>T c.(904-906)TTG>TTT p.L302F ZNF330_uc011chl.1_Missense_Mutation_p.L242F NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 302 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) TTACTAATTTGAATTTAGGAA 0.338 NA 20 107 4.27e-12 5.19e-12 1 0 NR3C2 4306 broad.mit.edu 37 4 149357710 149357710 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:149357710T>C uc003ilj.3 - 2 637 c.303A>G c.(301-303)GTA>GTG p.V101V NR3C2_uc003ilk.3_Silent_p.V101V|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 101 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TGGACTCAGCTACAGTTGCTG 0.408 NA 43 166 0 0 0 0 RNF175 285533 broad.mit.edu 37 4 154649396 154649396 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:154649396T>C uc003int.2 - 4 737 c.364A>G c.(364-366)AGA>GGA p.R122G RNF175_uc003inu.1_Intron NM_173662 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 122 integral to membrane zinc ion binding ovary(1)|pancreas(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CGGGTAGCTCTGAAGAGGATG 0.428 NA 30 69 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155156538 155156538 + Nonsense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:155156538G>C uc003inw.2 - 25 7901 c.7901C>G c.(7900-7902)TCA>TGA p.S2634* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2634 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACTGGAGTTTGAGTGTCTGTA 0.463 NA 45 94 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155156946 155156946 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:155156946G>A uc003inw.2 - 25 7493 c.7493C>T c.(7492-7494)ACC>ATC p.T2498I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2498 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CATTTCCAAGGTGTCTTCTTT 0.368 NA 40 151 0 0 0 0 LRAT 9227 broad.mit.edu 37 4 155665617 155665617 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:155665617C>G uc003iom.1 + 1 466 c.139C>G c.(139-141)CGA>GGA p.R47G uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R47G NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 47 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) CTCTTTCCACCGAGGCGACGT 0.577 NA 22 151 0 0 0 0 GLRB 2743 broad.mit.edu 37 4 158065104 158065104 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:158065104G>T uc003ipj.2 + 8 1099 c.897G>T c.(895-897)GTG>GTT p.V299V NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 299 Helical; (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CTGCCAGAGTGCCCCTGGGTA 0.448 NA 19 142 6.33e-15 7.87e-15 1 0 GRIA2 2891 broad.mit.edu 37 4 158284070 158284070 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:158284070G>T uc003ipm.3 + 15 2985 c.2526G>T c.(2524-2526)GAG>GAT p.E842D GRIA2_uc011cit.1_Missense_Mutation_p.E795D|GRIA2_uc003ipl.3_Missense_Mutation_p.E842D|GRIA2_uc003ipk.3_Missense_Mutation_p.E795D|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 842 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CAAGGGCCGAGGCGAAACGAA 0.453 NA 47 84 2.13e-23 2.78e-23 1 0 FAM198B 51313 broad.mit.edu 37 4 159076818 159076818 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:159076818G>A uc003ipp.3 - 3 1522 c.1070C>T c.(1069-1071)ACT>ATT p.T357I FAM198B_uc003ipq.3_Missense_Mutation_p.T365I|FAM198B_uc003ipr.3_Missense_Mutation_p.T357I NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 357 Extracellular (Potential). Golgi membrane|integral to membrane 0 ATGTATTTCAGTACAACCCGA 0.428 NA 4 73 0 0 0 0 FAM198B 51313 broad.mit.edu 37 4 159076833 159076833 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:159076833G>C uc003ipp.3 - 3 1507 c.1055C>G c.(1054-1056)CCT>CGT p.P352R FAM198B_uc003ipq.3_Missense_Mutation_p.P360R|FAM198B_uc003ipr.3_Missense_Mutation_p.P352R NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 352 Extracellular (Potential). Golgi membrane|integral to membrane 0 ACCCGATTCAGGCTTGGGTAC 0.413 NA 5 72 0 0 0 0 TMEM144 55314 broad.mit.edu 37 4 159136355 159136355 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:159136355A>G uc003ipx.2 + 4 642 c.122A>G c.(121-123)CAG>CGG p.Q41R TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 41 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) ATGTTTCTCCAGTGGGTTCTT 0.388 NA 32 222 0 0 0 0 ANP32C 23520 broad.mit.edu 37 4 165118778 165118778 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:165118778G>T uc011cjk.1 - 1 86 c.86C>A c.(85-87)TCG>TAG p.S29* MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 29 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GCCTTCATTCGACCGACTGTT 0.498 NA 68 310 1.74e-33 2.31e-33 1 0 GALNTL6 442117 broad.mit.edu 37 4 173852403 173852403 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:173852403G>T uc003isv.2 + 9 1869 c.1133G>T c.(1132-1134)GGG>GTG p.G378V NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 378 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GTTCCATCTGGGACAAGCCTG 0.463 NA 53 125 6.43e-24 8.39e-24 1 0 WDR17 116966 broad.mit.edu 37 4 177052768 177052768 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:177052768C>T uc003iuj.2 + 8 1205 c.1049C>T c.(1048-1050)CCA>CTA p.P350L WDR17_uc003iuk.2_Missense_Mutation_p.P326L|WDR17_uc003ium.3_Missense_Mutation_p.P326L|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 350 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTTCCACCCCCAACTTTAACA 0.383 NA 82 230 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177098636 177098636 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:177098636C>A uc003iuj.2 + 30 3836 c.3680C>A c.(3679-3681)TCT>TAT p.S1227Y WDR17_uc003iuk.2_Missense_Mutation_p.S1203Y|WDR17_uc003ium.3_Missense_Mutation_p.S1188Y|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.S438Y NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1227 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTAGAAGACTCTCCGTATACA 0.299 NA 32 157 3.99e-17 5.05e-17 1 0 LRP2BP 55805 broad.mit.edu 37 4 186294193 186294193 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:186294193A>G uc003ixj.1 - 6 1432 c.620T>C c.(619-621)CTG>CCG p.L207P LRP2BP_uc003ixk.1_Missense_Mutation_p.L181P|LRP2BP_uc011ckr.1_Missense_Mutation_p.L207P NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 207 Sel1-like 4. cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) CTGGGACTCCAGATTCCCATT 0.473 NA 23 85 0 0 0 0 TRIML1 339976 broad.mit.edu 37 4 189068081 189068081 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:189068081C>A uc003izm.1 + 6 1077 c.962C>A c.(961-963)CCG>CAG p.P321Q TRIML1_uc003izn.1_Missense_Mutation_p.P45Q NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 321 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCCGACAACCCGGAAAGATTT 0.537 NA 56 123 4.26e-23 5.53e-23 1 0 BRD9 65980 broad.mit.edu 37 5 884145 884145 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:884145C>T uc003jbq.2 - 8 1041 c.874G>A c.(874-876)GAC>AAC p.D292N BRD9_uc003jbl.2_Missense_Mutation_p.D176N|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.D239N|BRD9_uc003jbo.2_Missense_Mutation_p.D196N|BRD9_uc003jbp.2_5'Flank|BRD9_uc011cmc.1_RNA NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 292 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GCGGTACTGTCCGTCAAGCTG 0.632 NA 23 75 0 0 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235236 5235236 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:5235236G>T uc003jdl.2 + 13 2098 c.1960G>T c.(1960-1962)GAG>TAG p.E654* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.E654*|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 654 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCAGTGTGCCGAGCACAACAG 0.527 NA 10 119 1.59e-06 1.8e-06 1 0 FAM105B 90268 broad.mit.edu 37 5 14678802 14678802 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:14678802G>T uc003jfk.2 + 3 394 c.242G>T c.(241-243)AGC>ATC p.S81I NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 81 ovary(2) 2 Lung NSC(4;0.00696) CCGAGATTAAGCGTAGCTCCT 0.358 NA 9 36 2.18e-05 2.42e-05 1 0 PRDM9 56979 broad.mit.edu 37 5 23527819 23527819 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:23527819C>T uc003jgo.2 + 11 2804 c.2622C>T c.(2620-2622)AGC>AGT p.S874S NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 874 C2H2-type 14. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATAGGTCAAGCCTCTGCTATC 0.522 NA HNSCC(3;0.000094) 33 110 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26890582 26890582 + Nonsense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:26890582C>A uc003jgs.1 - 8 1514 c.1345G>T c.(1345-1347)GAA>TAA p.E449* CDH9_uc011cnv.1_Nonsense_Mutation_p.E42* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 449 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GGAGATGATTCCCGGTCAAGG 0.408 NA 58 157 4.67e-30 6.15e-30 1 0 RAI14 26064 broad.mit.edu 37 5 34823760 34823760 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:34823760C>A uc003jir.2 + 15 2009 c.1813C>A c.(1813-1815)CAA>AAA p.Q605K RAI14_uc010iur.2_Missense_Mutation_p.Q576K|RAI14_uc011coj.1_Missense_Mutation_p.Q605K|RAI14_uc003jis.2_Missense_Mutation_p.Q608K|RAI14_uc003jit.2_Missense_Mutation_p.Q605K|RAI14_uc011cok.1_Missense_Mutation_p.Q597K NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 605 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CCAAGAAGCCCAAGAAGAAAT 0.363 NA 17 76 1.03e-11 1.24e-11 1 0 C5orf39 389289 broad.mit.edu 37 5 43040127 43040127 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:43040127A>T uc003jnf.2 - 1 321 c.22T>A c.(22-24)TGT>AGT p.C8S C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank NM_001014279 NP_001014301 Q3ZCQ2 AX2R_HUMAN annexin II receptor 8 receptor activity 0 CGCTTCACACAGCCAAGAAAA 0.547 NA OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 117 0 0 0 0 CCNB1 891 broad.mit.edu 37 5 68473452 68473452 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:68473452G>A uc003jvm.2 + 9 1473 c.1296G>A c.(1294-1296)AAG>AAA p.K432K CCNB1_uc010ixb.2_Silent_p.K395K NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 432 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTGTGGCAAAGGTGTAACTTG 0.383 NA 22 140 0 0 0 0 PDE8B 8622 broad.mit.edu 37 5 76607880 76607880 + Splice_Site SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:76607880T>A uc003kfa.2 + 2 444 c.399_splice c.e2+2 p.Q133_splice PDE8B_uc003kfb.2_Intron|PDE8B_uc003kfc.2_Splice_Site_p.Q133_splice|PDE8B_uc003kfd.2_Splice_Site_p.Q133_splice|PDE8B_uc003kfe.2_Splice_Site_p.Q133_splice NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCTATTCAGGTACGCCTCCTT 0.348 NA 28 192 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79029872 79029872 + Nonsense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:79029872A>T uc003kgc.2 + 2 5356 c.5284A>T c.(5284-5286)AAA>TAA p.K1762* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1762 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCCGACTTTAAAAAGGGAGG 0.413 NA 16 95 0 0 0 0 RASGRF2 5924 broad.mit.edu 37 5 80363998 80363998 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:80363998G>A uc003kha.1 + 3 543 c.543G>A c.(541-543)GAG>GAA p.E181E RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 181 Potential. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTAAATCAGAGGTATTTCCCA 0.393 NA 11 103 0 0 0 0 PCSK1 5122 broad.mit.edu 37 5 95764933 95764933 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:95764933A>G uc003kls.1 - 2 475 c.269T>C c.(268-270)TTA>TCA p.L90S NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 90 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCATCAGATAATCTCTTAGT 0.333 NA 20 144 0 0 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794169 101794169 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:101794169G>A uc003knn.2 - 6 1220 c.1048C>T c.(1048-1050)CGT>TGT p.R350C SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.R350C|SLCO6A1_uc003knq.2_Missense_Mutation_p.R288C NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 350 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGCTGTTTACGTTTCCTAGCT 0.294 NA 24 133 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130815438 130815438 + Nonsense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:130815438C>A uc003kvn.1 - 16 2055 c.1849G>T c.(1849-1851)GAG>TAG p.E617* RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.E667*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.E617*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.E334*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.E617*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Nonsense_Mutation_p.E617* NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 617 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AAAAGTAACTCTTTGAACACT 0.328 NA 20 112 1.02e-10 1.22e-10 1 0 KIF3A 11127 broad.mit.edu 37 5 132069961 132069961 + Missense_Mutation SNP T T A rs146249719 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:132069961T>A uc003kxo.2 - 2 370 c.216A>T c.(214-216)AAA>AAT p.K72N KIF3A_uc003kxn.2_Missense_Mutation_p.K31N|KIF3A_uc011cxf.1_Missense_Mutation_p.K72N|KIF3A_uc003kxp.2_Missense_Mutation_p.K72N NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 72 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATCAAGTTGTTTACTCTCTG 0.318 NA 75 142 0 0 0 0 BRD8 10902 broad.mit.edu 37 5 137496708 137496708 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:137496708G>A uc003lcf.1 - 18 2354 c.2299C>T c.(2299-2301)CGA>TGA p.R767* BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Nonsense_Mutation_p.R546*|BRD8_uc003lcg.2_Nonsense_Mutation_p.R840*|BRD8_uc003lci.2_Nonsense_Mutation_p.R770*|BRD8_uc003lch.2_Nonsense_Mutation_p.R661*|BRD8_uc011cym.1_Nonsense_Mutation_p.R751*|BRD8_uc010jer.1_Nonsense_Mutation_p.R736*|BRD8_uc011cyn.1_Nonsense_Mutation_p.R726* NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 767 Bromo 1. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTGTGCTTCGGATCAGTCCA 0.408 NA 15 106 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182431 140182431 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:140182431C>T uc003lhf.2 + 1 1649 c.1649C>T c.(1648-1650)ACG>ATG p.T550M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T550M NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 550 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAACGTGACGCTGCAGGTG 0.687 NA 26 108 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250500 140250500 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:140250500G>T uc003lia.2 + 1 2670 c.1812G>T c.(1810-1812)GCG>GCT p.A604A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A604A NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 604 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACAACGCGTGGCTTTCAT 0.672 NA 13 67 2.63e-14 3.24e-14 1 0 PCDHB5 26167 broad.mit.edu 37 5 140516465 140516465 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:140516465C>T uc003liq.2 + 1 1666 c.1449C>T c.(1447-1449)GCC>GCT p.A483A NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 483 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCAACGCCCAGGTCACCT 0.637 NA 49 119 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718644 140718644 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:140718644C>T uc003ljk.1 + 1 291 c.106C>T c.(106-108)CGG>TGG p.R36W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R36W NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 36 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATTCTGTGCGGGAAGAGAT 0.602 NA OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 95 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811076 140811076 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:140811076C>A uc003lkt.1 + 1 919 c.750C>A c.(748-750)AGC>AGA p.S250R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S250R NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 250 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCGCGAGCGTTCCGGAGA 0.627 NA 31 68 2.71e-09 3.19e-09 1 0 FGF1 2246 broad.mit.edu 37 5 141974899 141974899 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:141974899G>A uc003lmm.2 - 4 504 c.424C>T c.(424-426)CAG>TAG p.Q142* FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Nonsense_Mutation_p.Q142*|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Nonsense_Mutation_p.Q142*|FGF1_uc010jgj.2_Nonsense_Mutation_p.Q141*|FGF1_uc003lmr.2_Nonsense_Mutation_p.Q142*|FGF1_uc003lms.3_Nonsense_Mutation_p.Q142* NM_001144892 NP_001138364 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) isoform 1 142 Heparin-binding. angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding 0 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) ATTGCTTTCTGGCCATAGTGA 0.483 NA 9 64 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150925209 150925209 + Nonsense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:150925209C>A uc003lue.3 - 9 5492 c.5479G>T c.(5479-5481)GAG>TAG p.E1827* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1827 Extracellular (Potential).|Cadherin 16. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAATCCATCTCTGATACAATG 0.433 NA 39 66 1.91e-15 2.39e-15 1 0 FAT2 2196 broad.mit.edu 37 5 150934053 150934053 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:150934053T>C uc003lue.3 - 4 3828 c.3815A>G c.(3814-3816)GAT>GGT p.D1272G GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1272 Extracellular (Potential).|Cadherin 11. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGACCCTCATCCAGGTCTGA 0.557 NA 39 187 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176666861 176666861 + Nonsense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:176666861A>T uc003mfr.3 + 8 4435 c.4297A>T c.(4297-4299)AAA>TAA p.K1433* NSD1_uc003mft.3_Nonsense_Mutation_p.K1164*|NSD1_uc003mfs.1_Nonsense_Mutation_p.K1330*|NSD1_uc011dfx.1_Nonsense_Mutation_p.K1081* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1433 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGGCCTTTCTAAAAAGGTATG 0.313 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 36 46 0 0 0 0 GRM6 2916 broad.mit.edu 37 5 178410115 178410115 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:178410115G>A uc003mjr.2 - 9 2411 c.2232C>T c.(2230-2232)TGC>TGT p.C744C GRM6_uc003mjq.2_Silent_p.C147C NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 744 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CCGACATGTCGCACTTGAGCA 0.637 NA 7 71 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180048550 180048550 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:180048550G>A uc003mma.3 - 13 2091 c.2012C>T c.(2011-2013)TCG>TTG p.S671L FLT4_uc003mlz.3_Missense_Mutation_p.S671L|FLT4_uc003mmb.1_Missense_Mutation_p.S204L|FLT4_uc011dgy.1_Missense_Mutation_p.S671L NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 671 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ACCCTGCACCGACAGGTACTT 0.677 NA Congenital_Hereditary_Lymphedema 11 60 0 0 0 0 BTNL3 10917 broad.mit.edu 37 5 180432345 180432345 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:180432345C>A uc003mmr.2 + 8 1002 c.874C>A c.(874-876)CTG>ATG p.L292M BTNL3_uc010jlp.2_Missense_Mutation_p.L77M NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 292 B30.2/SPRY.|Cytoplasmic (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGAGGTGACTCTGGATCCAGA 0.552 NA 19 139 1.07e-15 1.34e-15 1 0 DSP 1832 broad.mit.edu 37 6 7569464 7569464 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:7569464G>T uc003mxp.1 + 12 1744 c.1465G>T c.(1465-1467)GAG>TAG p.E489* DSP_uc003mxq.1_Nonsense_Mutation_p.E489* NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 489 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGACAACAACGAGCGCAGCAA 0.527 NA 83 91 1.13e-35 1.51e-35 1 0 HIVEP1 3096 broad.mit.edu 37 6 12125336 12125336 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:12125336G>A uc003nac.2 + 4 5487 c.5308G>A c.(5308-5310)GGA>AGA p.G1770R HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1770 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) AGATGAAAATGGAGCTGTTTG 0.423 NA 129 130 0 0 0 0 PRL 5617 broad.mit.edu 37 6 22287700 22287700 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:22287700C>A uc003ndp.2 - 5 1134 c.615G>T c.(613-615)AGG>AGT p.R205S PRL_uc003ndo.2_Missense_Mutation_p.R206S|PRL_uc003ndq.2_Missense_Mutation_p.R205S NM_000948 NP_000939 P01236 PRL_HUMAN prolactin precursor 205 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding 0 Ovarian(93;0.163) TATGTGAATCCCTGCGTAGGC 0.463 NA 164 149 1.04e-72 1.4e-72 1 0 HIST1H4B 8366 broad.mit.edu 37 6 26027337 26027337 + Silent SNP G G A rs141516292 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:26027337G>A uc003nfr.2 - 1 144 c.144C>T c.(142-144)TCC>TCT p.S48S NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 48 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 AAATCAAACCGGAAATTCGCT 0.567 NA 25 137 0 0 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240930 26240930 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:26240930C>T uc003nhe.1 + 1 277 c.277C>T c.(277-279)CGC>TGC p.R93C NM_003540 NP_003531 P62805 H4_HUMAN histone cluster 1, H4f 93 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) CGCGCTCAAGCGCCAGGGACG 0.547 NA 7 131 0 0 0 0 OR2W1 26692 broad.mit.edu 37 6 29012622 29012622 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:29012622C>G uc003nlw.2 - 1 331 c.331G>C c.(331-333)GAG>CAG p.E111Q NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGAAGGCACTCAACTGAGCCC 0.433 NA 21 123 0 0 0 0 OR2J2 26707 broad.mit.edu 37 6 29141990 29141990 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:29141990C>A uc011dlm.1 + 1 680 c.578C>A c.(577-579)ACC>AAC p.T193N NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTGTTGACACCCATGCAAAT 0.473 NA 41 339 1.5e-21 1.94e-21 1 0 MOG 4340 broad.mit.edu 37 6 29638476 29638476 + Splice_Site SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:29638476A>G uc003nnf.2 + 7 888 c.710_splice c.e7-2 p.G237_splice MOG_uc003nmy.1_Splice_Site_p.G237_splice|MOG_uc003nmz.2_Splice_Site|MOG_uc011dlt.1_Splice_Site_p.G167_splice|MOG_uc003nna.2_Splice_Site_p.G121_splice|MOG_uc011dlu.1_Splice_Site_p.G98_splice|MOG_uc011dlv.1_Splice_Site_p.G82_splice|MOG_uc003nnd.2_Splice_Site|MOG_uc003nne.2_Splice_Site_p.G237_splice|MOG_uc003nng.2_Splice_Site_p.G214_splice|MOG_uc003nnh.2_Splice_Site_p.G198_splice|MOG_uc003nni.2_Splice_Site_p.G214_splice|MOG_uc003nnj.2_Splice_Site_p.G198_splice|MOG_uc003nnk.2_Intron NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 TTTTGTTTTCAGGGCAATTCC 0.438 NA 24 30 0 0 0 0 TRIM26 7726 broad.mit.edu 37 6 30166209 30166209 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:30166209C>T uc003npr.2 - 4 740 c.531G>A c.(529-531)GCG>GCA p.A177A TRIM26_uc003nps.2_Silent_p.A177A|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.A177A NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 177 DNA binding|zinc ion binding ovary(2)|lung(1) 3 CACTTACCAGCGCGGCCAGGA 0.577 NA 17 202 0 0 0 0 NOTCH4 4855 broad.mit.edu 37 6 32180994 32180994 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:32180994G>A uc003obb.2 - 15 2495 c.2356C>T c.(2356-2358)CCT>TCT p.P786S NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 786 EGF-like 20.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AAGGTGCCAGGCCTGTTCACA 0.627 NA 72 79 0 0 0 0 RPL10A 4736 broad.mit.edu 37 6 35438521 35438521 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:35438521A>G uc003okp.1 + 6 682 c.648A>G c.(646-648)CTA>CTG p.L216L RPL10A_uc003okq.1_Silent_p.L132L|RPL10A_uc003okr.1_Silent_p.L132L|RPL10A_uc003oks.1_Silent_p.L132L NM_007104 NP_009035 P62906 RL10A_HUMAN ribosomal protein L10a 216 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome ovary(1) 1 CCCAGCGCCTATATTAAGGCA 0.493 NA 64 66 0 0 0 0 DAAM2 23500 broad.mit.edu 37 6 39838206 39838206 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:39838206G>T uc003oow.2 + 8 1120 c.964G>T c.(964-966)GCC>TCC p.A322S DAAM2_uc010jxc.2_Missense_Mutation_p.A322S|DAAM2_uc003oox.2_Missense_Mutation_p.A322S NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 322 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) ACATGAAAATGCCATCCTGGA 0.517 NA 7 10 2.01e-06 2.26e-06 1 0 DAAM2 23500 broad.mit.edu 37 6 39855276 39855276 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:39855276C>T uc003oow.2 + 16 2124 c.1968C>T c.(1966-1968)TCC>TCT p.S656S DAAM2_uc003oox.2_Silent_p.S656S|uc003ooz.1_5'Flank NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 656 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) AGCTGGGCTCCACTGAAGACA 0.542 NA 10 50 0 0 0 0 SUPT3H 8464 broad.mit.edu 37 6 44922282 44922282 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:44922282C>T uc003oxo.2 - 10 994 c.676G>A c.(676-678)GTT>ATT p.V226I SUPT3H_uc003oxn.1_Missense_Mutation_p.V215I|SUPT3H_uc011dvv.1_Missense_Mutation_p.V63I|SUPT3H_uc003oxp.2_Missense_Mutation_p.V215I|SUPT3H_uc011dvw.1_Missense_Mutation_p.V129I NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 297 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 ATTGCGACAACATTGGGTTTT 0.383 NA 22 265 0 0 0 0 MEP1A 4224 broad.mit.edu 37 6 46761196 46761196 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:46761196G>T uc010jzh.1 + 1 103 c.61G>T c.(61-63)GCT>TCT p.A21S MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A21S|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 21 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) CCACATAGCAGCTGTACCGGT 0.343 NA 129 389 2.1e-94 2.84e-94 1 0 GPR111 222611 broad.mit.edu 37 6 47650333 47650333 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:47650333A>T uc010jzj.1 + 6 2039 c.2038A>T c.(2038-2040)ATT>TTT p.I680F GPR111_uc010jzk.1_Missense_Mutation_p.I612F|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 680 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GGCCTTCCACATTATCTTCTC 0.483 NA 52 85 0 0 0 0 AIM1 202 broad.mit.edu 37 6 106969128 106969128 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:106969128C>G uc003prh.2 + 2 3308 c.2821C>G c.(2821-2823)CTA>GTA p.L941V NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 941 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ACGAAGCAACCTACACTTGCC 0.363 NA 45 61 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111588223 111588223 + Nonsense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:111588223C>G uc003puv.3 + 4 1880 c.1458C>G c.(1456-1458)TAC>TAG p.Y486* NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 486 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) ATAATCAATACCCATCAAATG 0.403 NA 29 83 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152702405 152702405 + Silent SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:152702405C>G uc010kiw.2 - 56 9347 c.8745G>C c.(8743-8745)GGG>GGC p.G2915G SYNE1_uc003qot.3_Silent_p.G2922G|SYNE1_uc003qou.3_Silent_p.G2915G|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Silent_p.G2898G NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2915 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) TGAGCTCACACCCACTGGCAG 0.547 NA HNSCC(10;0.0054) 100 148 0 0 0 0 CNKSR3 154043 broad.mit.edu 37 6 154727662 154727662 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:154727662G>C uc003qpy.2 - 13 1999 c.1494C>G c.(1492-1494)GAC>GAG p.D498E NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 498 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTCGGATGTAGTCCGCACCCC 0.567 NA 44 94 0 0 0 0 TCP10L2 401285 broad.mit.edu 37 6 167590618 167590618 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:167590618C>T uc010kkp.2 + 4 625 c.494C>T c.(493-495)CCA>CTA p.P165L NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 165 0 TTAGCTCCTCCAAAGGTGACC 0.522 NA 24 58 0 0 0 0 TCP10 6953 broad.mit.edu 37 6 167791447 167791447 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr6:167791447G>A uc003qvv.1 - 4 625 c.413C>T c.(412-414)CCA>CTA p.P138L TCP10_uc003qvu.2_Missense_Mutation_p.P138L|TCP10_uc003qvw.2_Missense_Mutation_p.P114L NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 165 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) GGTCACCTTTGGAGGAGCTAA 0.522 NA 42 237 0 0 0 0 SUN1 23353 broad.mit.edu 37 7 893209 893209 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:893209G>T uc011jvp.1 + 11 1296 c.1217G>T c.(1216-1218)GGG>GTG p.G406V GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.G323V|SUN1_uc011jvq.1_Missense_Mutation_p.G303V|SUN1_uc003sjg.2_Missense_Mutation_p.G311V|SUN1_uc011jvr.1_Missense_Mutation_p.G215V|SUN1_uc003sji.2_Missense_Mutation_p.G244V|SUN1_uc003sjk.2_Missense_Mutation_p.G45V NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 433 Perinuclear space. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GGCGCTGCCGGGCCGTCAGCT 0.647 NA 18 58 7.42e-09 8.7e-09 1 0 ABCB5 340273 broad.mit.edu 37 7 20793095 20793095 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:20793095A>G uc003suw.3 + 18 2753 c.2207A>G c.(2206-2208)GAG>GGG p.E736G ABCB5_uc010kuh.2_Missense_Mutation_p.E1181G NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 736 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TTGTTGGATGAGGCCACTTCA 0.398 NA 23 100 0 0 0 0 JAZF1 221895 broad.mit.edu 37 7 27872583 27872583 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:27872583T>C uc003szn.2 - 5 809 c.568A>G c.(568-570)ATA>GTA p.I190V JAZF1_uc003szm.2_Missense_Mutation_p.I126V NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 190 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 TGATACTTTATGCCATTCACA 0.438 NA T SUZ12 endometrial stromal tumours 18 32 0 0 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378427 31378427 + Silent SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:31378427G>A uc003tch.2 - 2 809 c.456C>T c.(454-456)ATC>ATT p.I152I NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 152 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GTCTCTTGCCGATTCTCAGAA 0.458 NA 35 110 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33388738 33388738 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:33388738C>G uc003tdn.1 + 13 1901 c.1388C>G c.(1387-1389)CCA>CGA p.P463R BBS9_uc003tdo.1_Missense_Mutation_p.P463R|BBS9_uc003tdp.1_Missense_Mutation_p.P463R|BBS9_uc003tdq.1_Missense_Mutation_p.P463R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Missense_Mutation_p.P341R NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 463 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) TACGTGCAACCACCATTAGAA 0.318 NA Bardet-Biedl_syndrome 22 134 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82538228 82538228 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:82538228C>A uc003uhx.2 - 8 13691 c.13402G>T c.(13402-13404)GTC>TTC p.V4468F PCLO_uc003uhv.2_Missense_Mutation_p.V4468F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4399 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTAGAGTGGACCAATCTTTCC 0.413 NA 35 120 4.32e-19 5.53e-19 1 0 SEMA3A 10371 broad.mit.edu 37 7 83610727 83610727 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:83610727C>G uc003uhz.2 - 14 1877 c.1562G>C c.(1561-1563)GGG>GCG p.G521A NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 521 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ACACGCTTTCCCGTAAATATC 0.483 NA 16 30 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86394654 86394654 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:86394654G>A uc003uid.2 + 2 1292 c.193G>A c.(193-195)GGG>AGG p.G65R GRM3_uc010lef.2_Missense_Mutation_p.G63R|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 65 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGAAGACCGAGGGATTCAACG 0.418 NA 40 142 0 0 0 0 DMTF1 9988 broad.mit.edu 37 7 86817562 86817562 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:86817562C>T uc003uih.2 + 13 1682 c.1356C>T c.(1354-1356)GCC>GCT p.A452A DMTF1_uc003uii.2_Silent_p.A186A|DMTF1_uc003uij.2_Silent_p.A186A|DMTF1_uc011khb.1_Silent_p.A364A|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.A452A|DMTF1_uc003uin.2_Silent_p.A186A NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 452 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) ATAATACAGCCATCTCTTCTA 0.418 NA 86 288 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91631698 91631698 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:91631698G>A uc003ulg.2 + 8 2692 c.2467G>A c.(2467-2469)GAA>AAA p.E823K AKAP9_uc003ule.2_Missense_Mutation_p.E835K|AKAP9_uc003ulf.2_Missense_Mutation_p.E823K|AKAP9_uc003uli.2_Missense_Mutation_p.E448K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 835 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAGAAATAGAAATACTTAT 0.323 NA T BRAF papillary thyroid 46 137 0 0 0 0 VGF 7425 broad.mit.edu 37 7 100806374 100806374 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:100806374C>G uc003uxx.3 - 2 1969 c.1751G>C c.(1750-1752)CGG>CCG p.R584P NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 584 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) CTGCGCGCGCCGCGCCTGGGC 0.746 NA 7 35 0 0 0 0 FBXL13 222235 broad.mit.edu 37 7 102553619 102553619 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:102553619G>A uc003vaq.2 - 11 1349 c.922C>T c.(922-924)CGG>TGG p.R308W FBXL13_uc010liq.1_Missense_Mutation_p.R123W|FBXL13_uc010lir.1_Missense_Mutation_p.R308W|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R308W|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 308 LRR 4. 0 TCTGTGAACCGTCTGCAATAA 0.438 NA 19 102 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103126772 103126772 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:103126772G>T uc003vca.2 - 61 10015 c.9855C>A c.(9853-9855)ACC>ACA p.T3285T RELN_uc010liz.2_Silent_p.T3285T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3285 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) CACCTTGAATGGTCTCCCAGT 0.502 NA 42 136 1.23e-26 1.62e-26 1 0 RELN 5649 broad.mit.edu 37 7 103180756 103180756 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:103180756C>T uc003vca.2 - 44 6978 c.6818G>A c.(6817-6819)GGC>GAC p.G2273D RELN_uc010liz.2_Missense_Mutation_p.G2273D NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2273 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) AATGTACCTGCCCACATTGCT 0.552 NA 37 115 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133749194 133749194 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:133749194C>A uc003vrk.2 + 18 2873 c.2838C>A c.(2836-2838)AAC>AAA p.N946K EXOC4_uc011kpo.1_Missense_Mutation_p.N845K|EXOC4_uc003vrl.2_Missense_Mutation_p.N556K|EXOC4_uc011kpp.1_Missense_Mutation_p.N478K|EXOC4_uc011kpq.1_Missense_Mutation_p.N234K NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 946 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) CCACCCAGAACACGAGGCTGC 0.582 NA 23 96 0.00047179 0.000503661 1 0 C7orf55 154791 broad.mit.edu 37 7 139030441 139030441 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:139030441G>A uc003vuw.3 + 2 567 c.333G>A c.(331-333)TGG>TGA p.W111* LUC7L2_uc011kqs.1_Intron|LUC7L2_uc011kqt.1_Intron NM_197964 NP_932068 Q96HJ9 CG055_HUMAN formation of mitochondrial complexes 1 homolog 111 0 GGAAGGGCTGGGAGCCATGAA 0.438 NA 7 56 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141754696 141754696 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:141754696C>A uc003vwy.2 + 27 3356 c.3302C>A c.(3301-3303)ACA>AAA p.T1101K NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1101 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGGAAGAGTACAGGCACTATA 0.488 NA 29 96 2.42e-17 3.07e-17 1 0 TAS2R39 259285 broad.mit.edu 37 7 142880918 142880918 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:142880918T>A uc011ksw.1 + 1 407 c.407T>A c.(406-408)TTT>TAT p.F136Y NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 136 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) TTCTTCTACTTTGTGAAGATT 0.388 NA 63 195 0 0 0 0 FAM115A 9747 broad.mit.edu 37 7 143573297 143573297 + Silent SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:143573297T>C uc003wdo.1 - 2 538 c.405A>G c.(403-405)ACA>ACG p.T135T FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.T135T NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 135 0 Melanoma(164;0.0903) CCAGCTTTTCTGTCATGGTTT 0.507 NA 62 128 0 0 0 0 NOBOX 135935 broad.mit.edu 37 7 144096938 144096938 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:144096938G>T uc011kue.1 - 6 1066 c.1066C>A c.(1066-1068)CGG>AGG p.R356R NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 356 Homeobox. cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CACTTGGCCCGGCGATTCTGG 0.537 NA 14 33 2.32e-05 2.57e-05 1 0 MLL3 58508 broad.mit.edu 37 7 151970897 151970897 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr7:151970897C>T uc003wla.2 - 7 1124 c.905G>A c.(904-906)TGT>TAT p.C302Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 302 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CATCTGGGTACATTTCTCTTC 0.433 NA N medulloblastoma 8 330 0 0 0 0 SGK223 157285 broad.mit.edu 37 8 8235565 8235565 + Silent SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:8235565G>C uc003wsh.3 - 2 354 c.354C>G c.(352-354)GGC>GGG p.G118G NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 118 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGGGGAGCTTGCCAGGGGCTC 0.547 NA 39 145 0 0 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998511 8998511 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:8998511A>T uc003wsn.3 - 2 816 c.651T>A c.(649-651)AAT>AAA p.N217K PPP1R3B_uc003wso.3_Missense_Mutation_p.N216K NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 217 CBM21. glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) ACGTCTGTCCATTGCACTCGT 0.507 NA 45 124 0 0 0 0 FDFT1 2222 broad.mit.edu 37 8 11666366 11666366 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:11666366G>A uc003wui.2 + 2 315 c.163G>A c.(163-165)GCA>ACA p.A55T FDFT1_uc003wuh.2_5'UTR|FDFT1_uc010lsa.1_Intron|FDFT1_uc011kxe.1_5'UTR|FDFT1_uc011kxf.1_Missense_Mutation_p.A55T|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Missense_Mutation_p.A48T|FDFT1_uc010lsb.2_5'UTR|FDFT1_uc011kxh.1_5'UTR|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_5'UTR|FDFT1_uc003wuk.2_Missense_Mutation_p.A114T|FDFT1_uc011kxk.1_5'Flank NM_004462 NP_004453 P37268 FDFT_HUMAN squalene synthase 55 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity 0 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) TCGCAGTTTCGCAGCTGTTAT 0.572 NA 16 20 0 0 0 0 NEFM 4741 broad.mit.edu 37 8 24771549 24771549 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:24771549G>T uc003xed.3 + 1 276 c.243G>T c.(241-243)TCG>TCT p.S81S NEFM_uc011lac.1_Silent_p.S81S|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 81 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCCAGTCCTCGTCCCTGCTCA 0.662 NA 11 27 2.5e-24 3.27e-24 1 0 PURG 29942 broad.mit.edu 37 8 30889548 30889548 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:30889548G>A uc003xin.2 - 1 770 c.751C>T c.(751-753)CGA>TGA p.R251* WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Nonsense_Mutation_p.R251* NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 251 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CCACCTCTTCGTTCTTCTATG 0.458 NA 43 112 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52336292 52336292 + Splice_Site SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:52336292C>G uc003xqu.3 - 14 1740 c.1639_splice c.e14-1 p.E547_splice NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCACACCTTCCTAGGGAGCAA 0.368 NA 9 48 0 0 0 0 YTHDF3 253943 broad.mit.edu 37 8 64098988 64098988 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:64098988G>A uc003xuy.2 + 5 735 c.419G>A c.(418-420)GGA>GAA p.G140E YTHDF3_uc010lys.2_Missense_Mutation_p.G84E|YTHDF3_uc003xuz.2_Missense_Mutation_p.G84E|YTHDF3_uc003xva.2_Missense_Mutation_p.G84E|YTHDF3_uc011len.1_Missense_Mutation_p.G84E NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 140 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) GGGACAAGTGGATCTCAGGGA 0.433 NA 18 64 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68123821 68123821 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:68123821A>G uc003xxo.1 - 34 5106 c.4716T>C c.(4714-4716)ATT>ATC p.I1572I ARFGEF1_uc003xxl.1_Silent_p.I1026I|ARFGEF1_uc003xxn.1_Silent_p.I549I NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1572 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.I1572V(1) ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TAGAATCATGAATATCTACAG 0.323 NA 35 65 0 0 0 0 NECAB1 64168 broad.mit.edu 37 8 91937823 91937823 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:91937823C>T uc011lgg.1 + 7 749 c.555C>T c.(553-555)CGC>CGT p.R185R NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 185 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) GATCAAGCCGCCGAGTCCAGA 0.458 NA 13 25 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93023240 93023240 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:93023240G>A uc003yfd.2 - 4 632 c.548C>T c.(547-549)CCA>CTA p.P183L RUNX1T1_uc003yfc.1_Missense_Mutation_p.P156L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.P146L|RUNX1T1_uc010mao.2_Missense_Mutation_p.P156L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.P194L|RUNX1T1_uc003yfh.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yff.1_Missense_Mutation_p.P146L|RUNX1T1_uc003yfg.1_Missense_Mutation_p.P146L NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 183 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTTCAAAAATGGGATGACAAA 0.363 NA 40 132 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113395840 113395840 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:113395840T>C uc003ynu.2 - 37 6146 c.5987A>G c.(5986-5988)TAT>TGT p.Y1996C CSMD3_uc003yns.2_Missense_Mutation_p.Y1198C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y1956C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y1892C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1996 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCCCCATCATAAAAGTCCAG 0.333 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 42 99 0 0 0 0 HAS2 3037 broad.mit.edu 37 8 122626624 122626624 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:122626624C>T uc003yph.2 - 4 1922 c.1384G>A c.(1384-1386)GGG>AGG p.G462R NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 462 Extracellular (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GTGCCCCACCCAGCTTTGTTT 0.413 NA 135 281 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125052147 125052147 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:125052147C>T uc003yqw.2 + 20 2695 c.2489C>T c.(2488-2490)GCT>GTT p.A830V uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 830 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAGCTGAGGGCTCACATGTAC 0.507 NA 68 106 0 0 0 0 LRRC6 23639 broad.mit.edu 37 8 133622460 133622460 + Silent SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:133622460A>G uc003ytk.2 - 10 1166 c.1092T>C c.(1090-1092)TCT>TCC p.S364S LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 364 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ATCTTTTAGCAGAACTACTAT 0.428 NA 42 186 0 0 0 0 ZNF696 79943 broad.mit.edu 37 8 144378710 144378710 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:144378710G>A uc003yxy.3 + 3 1274 c.865G>A c.(865-867)GGG>AGG p.G289R NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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) CGTGCACACGGGGGAGCGGCC 0.726 NA 5 10 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 145008864 145008864 + Missense_Mutation SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:145008864A>T uc003zaf.1 - 10 1561 c.1391T>A c.(1390-1392)ATG>AAG p.M464K PLEC_uc003zab.1_Missense_Mutation_p.M327K|PLEC_uc003zac.1_Missense_Mutation_p.M331K|PLEC_uc003zad.2_Missense_Mutation_p.M327K|PLEC_uc003zae.1_Missense_Mutation_p.M295K|PLEC_uc003zag.1_Missense_Mutation_p.M305K|PLEC_uc003zah.2_Missense_Mutation_p.M313K|PLEC_uc003zaj.2_Missense_Mutation_p.M354K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 464 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGGTAGCTCCATCTCCTTAAA 0.637 NA 64 135 0 0 0 0 ZNF251 90987 broad.mit.edu 37 8 145948593 145948593 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr8:145948593G>A uc003zdv.3 - 5 708 c.452C>T c.(451-453)GCC>GTC p.A151V NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 151 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) ACTCTGCCCGGCAGAATTTCC 0.483 NA 4 180 0 0 0 0 JAK2 3717 broad.mit.edu 37 9 5054676 5054676 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:5054676G>A uc010mhm.2 + 6 841 c.728G>A c.(727-729)TGC>TAC p.C243Y JAK2_uc003ziw.2_Missense_Mutation_p.C243Y NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 243 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TTCAGCCAATGCAAAGCCACT 0.368 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 70 164 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763586 5763586 + Silent SNP A A G rs147383296 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:5763586A>G uc003zji.2 + 18 2415 c.2322A>G c.(2320-2322)ACA>ACG p.T774T KIAA1432_uc003zjh.2_Silent_p.T774T|KIAA1432_uc003zjl.3_Silent_p.T737T|KIAA1432_uc003zjj.1_Silent_p.T316T NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 853 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCTGTGCCACATTACCTTACT 0.537 NA 30 127 0 0 0 0 KDM4C 23081 broad.mit.edu 37 9 6805761 6805761 + Missense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:6805761G>A uc003zkh.2 + 3 887 c.307G>A c.(307-309)GCC>ACC p.A103T KDM4C_uc010mhu.2_Missense_Mutation_p.A125T|KDM4C_uc010mhw.2_Missense_Mutation_p.A103T|KDM4C_uc011lmi.1_Missense_Mutation_p.A103T|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A103T|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.A103T NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 103 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CAGGCAGCTGGCCAACAGTGG 0.418 NA 33 66 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18889684 18889684 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:18889684C>G uc003zne.3 + 25 4708 c.4581C>G c.(4579-4581)TGC>TGG p.C1527W ADAMTSL1_uc003znf.3_Missense_Mutation_p.C228W NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1527 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CTGCCCACTGCGCAGGGAAGG 0.657 NA 16 23 0 0 0 0 IFNW1 3467 broad.mit.edu 37 9 21141013 21141013 + Missense_Mutation SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:21141013C>G uc003zol.1 - 1 1132 c.557G>C c.(556-558)AGA>ACA p.R186T NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 186 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCTTTACTTCTCAGTCTTTC 0.378 NA 20 110 0 0 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762230 23762230 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:23762230C>A uc003zpu.2 - 2 278 c.3G>T c.(1-3)ATG>ATT p.M1I ELAVL2_uc003zps.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpt.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpv.2_Missense_Mutation_p.M1I|ELAVL2_uc003zpw.2_Missense_Mutation_p.M1I NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 1 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GTTGTGTTTCCATGGCAGCAA 0.403 NA 121 301 3.29e-43 4.4e-43 1 0 LINGO2 158038 broad.mit.edu 37 9 27949987 27949987 + Missense_Mutation SNP T T A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:27949987T>A uc003zqu.1 - 2 877 c.683A>T c.(682-684)AAA>ATA p.K228I LINGO2_uc010mjf.1_Missense_Mutation_p.K228I|LINGO2_uc003zqv.1_Missense_Mutation_p.K228I NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 228 LRR 8.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CTCTAGGTGTTTCAGGTGGAA 0.473 NA 27 119 0 0 0 0 ROR2 4920 broad.mit.edu 37 9 94487036 94487036 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:94487036G>T uc004arj.1 - 9 1939 c.1740C>A c.(1738-1740)GAC>GAA p.D580E ROR2_uc004ari.1_Missense_Mutation_p.D440E NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 580 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.D580Y(1) lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 TCACCGTGCGGTCATCATCGG 0.632 NA 6 51 2.77e-08 3.23e-08 1 0 OR13C8 138802 broad.mit.edu 37 9 107332082 107332082 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:107332082T>G uc011lvo.1 + 1 634 c.634T>G c.(634-636)TTA>GTA p.L212V NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TATTCCATTGTTAGTAATTTC 0.403 NA 53 139 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898525 112898525 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:112898525T>C uc004bei.2 + 9 1589 c.1397T>C c.(1396-1398)ATT>ACT p.I466T PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.I234T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.I234T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.I44T|AKAP2_uc011lwi.1_Missense_Mutation_p.I92T|AKAP2_uc004bem.2_Missense_Mutation_p.I92T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.I52T|AKAP2_uc011lwj.1_Missense_Mutation_p.I3T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.I3T NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 3 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AACATGGAAATTGAGGTGTCT 0.502 NA 45 222 0 0 0 0 TNC 3371 broad.mit.edu 37 9 117848972 117848972 + Nonsense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:117848972G>T uc004bjj.3 - 3 1400 c.1038C>A c.(1036-1038)TGC>TGA p.C346* TNC_uc010mvf.2_Nonsense_Mutation_p.C346* NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 346 EGF-like 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 AGGCATGTGGGCAGGTGGGTT 0.612 NA 12 60 1.58e-08 1.85e-08 1 0 OR5C1 392391 broad.mit.edu 37 9 125551651 125551651 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:125551651C>T uc011lzd.1 + 1 440 c.440C>T c.(439-441)GCC>GTC p.A147V NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 CTATGCCTGGCCTTGCTGGGA 0.572 NA 40 74 0 0 0 0 LHX2 9355 broad.mit.edu 37 9 126776323 126776323 + Silent SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:126776323G>T uc004boe.1 + 2 943 c.204G>T c.(202-204)GCG>GCT p.A68A LHX2_uc010mwi.1_Silent_p.A68A NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 68 LIM zinc-binding 1. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACCTGCTGGCGGTGGACAAGC 0.637 NA 18 94 3.52e-12 4.28e-12 1 0 PRDM12 59335 broad.mit.edu 37 9 133542106 133542106 + Missense_Mutation SNP C C A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:133542106C>A uc004bzt.1 + 2 395 c.335C>A c.(334-336)ACC>AAC p.T112N NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 112 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) AAGGCGGGAACCGAGATGGGC 0.647 NA 36 125 6.08e-31 8.03e-31 1 0 MAMDC4 158056 broad.mit.edu 37 9 139748462 139748462 + Nonsense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:139748462C>T uc004cjs.2 + 6 654 c.604C>T c.(604-606)CGA>TGA p.R202* MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 202 Extracellular (Potential).|MAM 1. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTCTGCCACCCGAAATGCCAC 0.622 NA 25 122 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18602398 18602398 + Missense_Mutation SNP T T G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:18602398T>G uc004cym.2 + 8 732 c.479T>G c.(478-480)CTG>CGG p.L160R CDKL5_uc004cyn.2_Missense_Mutation_p.L160R NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 160 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GCTCGTAATCTGTCAGAAGGC 0.383 NA 30 116 0 0 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998655 27998655 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:27998655C>T uc004dbx.1 - 1 912 c.797G>A c.(796-798)CGG>CAG p.R266Q NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 266 WD 2. ovary(3)|skin(1) 4 TTCTGCTACCCGTACCTGTCC 0.493 NA 27 40 0 0 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260456 30260456 + Silent SNP C C G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:30260456C>G uc004dcb.2 + 1 288 c.204C>G c.(202-204)ACC>ACG p.T68T MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 68 ovary(1) 1 AGCCACCCACCACCTCTGCTG 0.532 NA 15 13 0 0 0 0 CACNA1F 778 broad.mit.edu 37 X 49075889 49075889 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:49075889G>T uc004dnb.2 - 21 2659 c.2597C>A c.(2596-2598)ACC>AAC p.T866N CACNA1F_uc010nip.2_Missense_Mutation_p.T855N NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 866 III.|Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GTGGATGAGGGTGTGGCAGCC 0.567 NA 5 7 0.00198382 0.00207743 1 0 GSPT2 23708 broad.mit.edu 37 X 51488052 51488052 + Missense_Mutation SNP A A C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:51488052A>C uc004dpl.2 + 1 1556 c.1330A>C c.(1330-1332)ACT>CCT p.T444P NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 444 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) AGATATGGGCACTGTGGTCCT 0.413 NA 33 30 0 0 0 0 FOXO4 4303 broad.mit.edu 37 X 70321491 70321491 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:70321491G>C uc004dys.1 + 2 1764 c.1411G>C c.(1411-1413)GAT>CAT p.D471H FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.D416H NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 471 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) TCAGGATCTAGATCTTGATAT 0.527 NA 46 42 0 0 0 0 TBX22 50945 broad.mit.edu 37 X 79282239 79282239 + Missense_Mutation SNP G G T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:79282239G>T uc010nmg.1 + 6 804 c.670G>T c.(670-672)GTG>TTG p.V224L TBX22_uc004edi.1_Missense_Mutation_p.V104L|TBX22_uc004edj.1_Missense_Mutation_p.V224L NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 224 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CAAACCCCGAGTGCACGTGAT 0.453 NA 37 44 1.31e-17 1.67e-17 1 0 NXF3 56000 broad.mit.edu 37 X 102332615 102332615 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:102332615C>T uc004eju.2 - 18 1582 c.1511G>A c.(1510-1512)AGT>AAT p.S504N NXF3_uc010noi.1_3'UTR NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 504 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GAACAAGGCACTCTGGGTCCC 0.567 NA 63 32 0 0 0 0 PAK3 5063 broad.mit.edu 37 X 110385414 110385414 + Missense_Mutation SNP G G C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:110385414G>C uc004epa.2 + 2 293 c.266G>C c.(265-267)GGG>GCG p.G89A PAK3_uc010npt.1_Missense_Mutation_p.G89A|PAK3_uc010npu.1_Missense_Mutation_p.G89A|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.G89A|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.G89A|PAK3_uc010npw.1_Missense_Mutation_p.G89A NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 89 Autoregulatory region (By similarity).|Linker.|GTPase-binding (By similarity). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GCAGTCACCGGGGAATTCACT 0.418 NA TSP Lung(19;0.15) 82 80 0 0 0 0 BCORL1 63035 broad.mit.edu 37 X 129171509 129171509 + Splice_Site SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:129171509G>A uc004evb.1 + 9 4586 c.4472_splice c.e9+1 p.R1491_splice BCORL1_uc004evc.1_Splice_Site_p.R327_splice NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 ACGGCACGAGGCAAGAGGGCT 0.582 NA 49 46 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994507 140994507 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:140994507C>T uc004fbt.2 + 4 1603 c.1317C>T c.(1315-1317)CCC>CCT p.P439P MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 439 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGGTTTTCCCCAGTCTCCTC 0.453 NA HNSCC(15;0.026) 108 106 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717807 142717807 + Missense_Mutation SNP A A G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:142717807A>G uc004fbx.2 - 2 1494 c.1118T>C c.(1117-1119)ATA>ACA p.I373T SLITRK4_uc004fby.2_Missense_Mutation_p.I373T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 373 Extracellular (Potential).|LRRNT. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGGTTTCGGTATCAGTTCAGA 0.443 NA 103 76 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 148037158 148037158 + Nonsense_Mutation SNP G G A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:148037158G>A uc004fcp.2 + 11 2062 c.1583G>A c.(1582-1584)TGG>TAG p.W528* AFF2_uc004fcq.2_Nonsense_Mutation_p.W518*|AFF2_uc004fcr.2_Nonsense_Mutation_p.W489*|AFF2_uc011mxb.1_Nonsense_Mutation_p.W493*|AFF2_uc004fcs.2_Nonsense_Mutation_p.W495*|AFF2_uc011mxc.1_Nonsense_Mutation_p.W169* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 528 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACCAACAAGTGGCAACTGGAT 0.443 NA 115 107 0 0 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900745 151900745 + Missense_Mutation SNP T T C TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrX:151900745T>C uc010ntp.2 - 3 410 c.56A>G c.(55-57)CAA>CGA p.Q19R MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.Q19R|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 19 skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTCTCCTTGGGCCTCAAG 0.617 NA 19 50 0 0 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16953106 16953106 + Silent SNP A A T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chrY:16953106A>T uc004ftg.2 + 6 2667 c.2415A>T c.(2413-2415)ACA>ACT p.T805T NLGN4Y_uc004fte.2_Silent_p.T637T|NLGN4Y_uc011nas.1_Silent_p.T825T|NLGN4Y_uc004ftf.2_Silent_p.T498T|NLGN4Y_uc004fth.2_Silent_p.T805T NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 805 Cytoplasmic (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 AAAACAGTACAAATTTACCCC 0.433 NA 23 17 0 0 0 0 SELE 6401 broad.mit.edu 37 1 169698381 169698381 + Frame_Shift_Del DEL G G - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:169698381delG uc001ggm.3 - 7 1193 c.1036delC c.(1036-1038)CAGfs p.Q346fs C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 346 Extracellular (Potential).|Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) CATTCAACCTGGGCTGGTCCC 0.488 NA 31 140 --- --- --- --- NA NA NA NA SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:183515266_183515267insA uc001gqg.2 + 17 2658_2659 c.2536_2537insA c.(2536-2538)GAAfs p.E846fs SMG7_uc010pob.1_Frame_Shift_Ins_p.E829fs|SMG7_uc001gqf.2_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.2_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqi.2_Frame_Shift_Ins_p.E758fs|SMG7_uc010poc.1_Frame_Shift_Ins_p.E804fs NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 846 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GCAGCCTCTAGAAAAAAAAATG 0.45 NA 10 176 --- --- --- --- NA NA NA NA OR14A16 284532 broad.mit.edu 37 1 247978121 247978121 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr1:247978121delC uc001idm.1 - 1 911 c.911delG c.(910-912)GGAfs p.G304fs NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTGAGCTTTCCCTTTATCAA 0.343 NA 34 104 --- --- --- --- NA NA NA NA ITIH5 80760 broad.mit.edu 37 10 7708782 7708782 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:7708782delC uc001ijq.2 - 1 153 c.74delG c.(73-75)GGCfs p.G25fs ITIH5_uc001ijr.1_Frame_Shift_Del_p.G25fs NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 25 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CGAAGAGTGGCCCCAGCTCTG 0.567 NA 18 57 --- --- --- --- NA NA NA NA HTR7 3363 broad.mit.edu 37 10 92617175 92617175 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr10:92617175delC uc001kha.2 - 1 497 c.254delG c.(253-255)GGCfs p.G85fs HTR7_uc001kgz.2_Frame_Shift_Del_p.G85fs|HTR7_uc001khb.2_Frame_Shift_Del_p.G85fs NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 85 Helical; Name=1; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CAGGATGGAGCCGATCACAAC 0.632 NA 29 74 --- --- --- --- NA NA NA NA OR4C6 219432 broad.mit.edu 37 11 55433099 55433100 + Frame_Shift_Ins INS - - A rs149652704 TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:55433099_55433100insA uc001nht.3 + 3 722_723 c.457_458insA c.(457-459)CACfs p.H153fs OR4C6_uc010rik.1_Frame_Shift_Ins_p.H153fs NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGGATTTATGCACGCAATGATA 0.47 NA 17 171 --- --- --- --- NA NA NA NA SLCO2B1 11309 broad.mit.edu 37 11 74873807 74873807 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr11:74873807delC uc001owb.2 + 2 511 c.124delC c.(124-126)CCAfs p.P42fs SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Frame_Shift_Del_p.P20fs NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 42 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) GGACGTGCGGCCAAGTGTGTT 0.483 NA 60 153 --- --- --- --- NA NA NA NA RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr19:46299165_46299167delCCT uc002pdm.2 - 6 2257_2259 c.2114_2116delAGG c.(2113-2118)GAGGGC>GGC p.E705del RSPH6A_uc002pdl.2_In_Frame_Del_p.E441del NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 705 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 tcctcctcgccctcctcctcctc 0.438 NA 7 306 --- --- --- --- NA NA NA NA SH3RF3 344558 broad.mit.edu 37 2 110036087 110036088 + Frame_Shift_Ins INS - - T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:110036087_110036088insT uc010ywt.1 + 5 1392_1393 c.1392_1393insT c.(1390-1395)CTGCCCfs p.L464fs NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 464_465 SH3 3. zinc ion binding ovary(1) 1 AGGTCCAGCTGCCCCTCAACGT 0.663 NA 8 14 --- --- --- --- NA NA NA NA EPHA4 2043 broad.mit.edu 37 2 222307601 222307602 + Frame_Shift_Ins INS - - A TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr2:222307601_222307602insA uc002vmq.2 - 11 2063_2064 c.2021_2022insT c.(2020-2022)ATGfs p.M674fs EPHA4_uc002vmr.2_Frame_Shift_Ins_p.M674fs|EPHA4_uc010zlm.1_Frame_Shift_Ins_p.M615fs|EPHA4_uc010zln.1_Frame_Shift_Ins_p.M674fs NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 674 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CAAACTGTCCCATGATGCTGGC 0.48 NA 25 183 --- --- --- --- NA NA NA NA ZNRF3 84133 broad.mit.edu 37 22 29446545 29446546 + Frame_Shift_Ins INS - - G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr22:29446545_29446546insG uc003aeg.2 + 8 2241_2242 c.2076_2077insG c.(2074-2079)GGAGGGfs p.G692fs ZNRF3_uc003aeh.1_Frame_Shift_Ins_p.G692fs NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 792_793 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GCGGGGGCGGAGGGGGCAGCGG 0.658 NA 7 27 --- --- --- --- NA NA NA NA KIAA1257 57501 broad.mit.edu 37 3 128711936 128711937 + Frame_Shift_Ins INS - - G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:128711936_128711937insG uc003elj.3 - 2 407_408 c.211_212insC c.(211-213)CACfs p.H71fs KIAA1257_uc003elg.1_Frame_Shift_Ins_p.H71fs|KIAA1257_uc003eli.3_5'Flank NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 71 0 GGGGACCACGTGGGGCACGTCG 0.574 NA 105 327 --- --- --- --- NA NA NA NA ATP13A5 344905 broad.mit.edu 37 3 193007781 193007782 + Frame_Shift_Ins INS - - G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr3:193007781_193007782insG uc011bsq.1 - 26 2915_2916 c.2915_2916insC c.(2914-2916)CCTfs p.P972fs NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 972 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAAGCAGTAAAGGGGGAGAAAG 0.421 NA 29 124 --- --- --- --- NA NA NA NA DGKQ 1609 broad.mit.edu 37 4 954932 954932 + Frame_Shift_Del DEL G G - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:954932delG uc003gbw.2 - 22 2706 c.2632delC c.(2632-2634)CGAfs p.R878fs DGKQ_uc010ibn.2_Frame_Shift_Del_p.R865fs NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 878 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGCGTGACTCGGAAGTAGGAA 0.692 NA 18 57 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr4:187558038_187558039insG uc003izf.2 - 5 3860_3861 c.3672_3673insC c.(3670-3675)CCCAAAfs p.P1224fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1224_1225 Extracellular (Potential).|Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATGGTTGATTTGGGGGGACTAC 0.361 NA HNSCC(5;0.00058) 85 500 --- --- --- --- NA NA NA NA SLC9A3 6550 broad.mit.edu 37 5 524328 524328 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:524328delC uc003jbe.2 - 1 222 c.110delG c.(109-111)GGCfs p.G37fs SLC9A3_uc011clx.1_Frame_Shift_Del_p.G37fs NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 37 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CCCGCTCTCGCCGTGCGCGCC 0.443 NA 4 8 --- --- --- --- NA NA NA NA DNAJC21 134218 broad.mit.edu 37 5 34954712 34954712 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr5:34954712delC uc003jjc.2 + 12 1716 c.1489delC c.(1489-1491)CTTfs p.L497fs DNAJC21_uc003jjb.2_Frame_Shift_Del_p.L542fs NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 497 C2H2-type 2. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TCGGAATAAACTTTTTGACCA 0.383 NA 10 235 --- --- --- --- NA NA NA NA SVEP1 79987 broad.mit.edu 37 9 113168483 113168483 + Frame_Shift_Del DEL C C - TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aad13fa4-b2e7-4c89-9936-57cf7a5e16a4 5f41279c-51ec-45fc-9046-a5111226eab5 g.chr9:113168483delC uc010mtz.2 - 38 9734 c.9397delG c.(9397-9399)GCAfs p.A3133fs SVEP1_uc010mty.2_Frame_Shift_Del_p.A1059fs NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3133 Sushi 29. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TCTCCAGTTGCCACTGCATTG 0.512 NA 55 139 --- --- --- --- NA NA NA NA