Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KAZ 23254 broad.mit.edu 37 1 15420685 15420685 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:15420685G>T uc001avm.3 + 9 1513 c.1232G>T c.(1231-1233)AGC>ATC p.S411I NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 411 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 GACTCGGACAGCCAGTGCAGC 0.687 NA 12 18 6.72482e-11 7.81812e-11 0.003163 1 0 SPEN 23013 broad.mit.edu 37 1 16261724 16261724 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:16261724G>A uc001axk.1 + 11 9193 c.8989G>A c.(8989-8991)GAA>AAA p.E2997K SPEN_uc010obp.1_Missense_Mutation_p.E2956K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2997 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACTGCCTACAGAAGTCAACCA 0.592 NA 11 48 0 0 0.00245 0 0 SYTL1 84958 broad.mit.edu 37 1 27679907 27679907 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:27679907G>A uc001bnw.1 + 14 1644 c.1477G>A c.(1477-1479)GAG>AAG p.E493K SYTL1_uc001bnv.1_Missense_Mutation_p.E481K|SYTL1_uc009vsu.1_Missense_Mutation_p.E428K|SYTL1_uc009vsv.1_Missense_Mutation_p.E493K NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 493 C2 2. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGCTTGTGCCGAGCTCTCCCT 0.582 NA 7 24 0 0 0.00308 0 0 S100PBP 64766 broad.mit.edu 37 1 33292039 33292039 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:33292039C>G uc001bvz.2 + 3 616 c.339C>G c.(337-339)CTC>CTG p.L113L S100PBP_uc001bwa.1_Silent_p.L113L|S100PBP_uc001bwb.1_Silent_p.L113L|S100PBP_uc001bwc.2_Silent_p.L113L|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 113 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTCCTGACCTCTTCAAACTAC 0.418 NA 37 39 0 0 0.006999 0 0 CSMD2 114784 broad.mit.edu 37 1 34180202 34180202 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:34180202G>T uc001bxn.1 - 21 3300 c.3271C>A c.(3271-3273)CTG>ATG p.L1091M CSMD2_uc001bxm.1_Missense_Mutation_p.L1131M NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1091 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACCTTGGCAGAGGCGAGCTC 0.602 NA 79 289 2.93434e-44 4.22857e-44 0.01441 1 0 GJB4 127534 broad.mit.edu 37 1 35227576 35227576 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:35227576C>A uc001bxv.1 + 2 1091 c.721C>A c.(721-723)CAG>AAG p.Q241K GJB4_uc001bxw.3_Missense_Mutation_p.Q241K NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 241 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGTCCTCTCCCAGGGAGGGCA 0.617 NA 14 15 3.45872e-05 3.68217e-05 0.004007 1 0 ZMYM6 9204 broad.mit.edu 37 1 35477543 35477543 + Nonsense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:35477543G>C uc001byh.2 - 8 1238 c.1010C>G c.(1009-1011)TCA>TGA p.S337* ZMYM6_uc001byf.1_Nonsense_Mutation_p.S337*|ZMYM6_uc010oht.1_Nonsense_Mutation_p.S240*|ZMYM6_uc009vup.2_Nonsense_Mutation_p.S143*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.S337*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.S143* NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 337 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AGTTCCATTTGACATGGCTAG 0.398 NA 13 55 0 0 0.006122 0 0 MACF1 23499 broad.mit.edu 37 1 39844179 39844179 + Silent SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:39844179A>G uc010oiu.1 + 17 8711 c.8580A>G c.(8578-8580)GGA>GGG p.G2860G MACF1_uc010ois.1_Silent_p.G2358G|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4425 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGTAAACGGATACCACACCT 0.458 NA 30 54 0 0 0.004289 0 0 MYCL1 4610 broad.mit.edu 37 1 40363447 40363447 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:40363447C>A uc001cer.1 - 3 909 c.692G>T c.(691-693)AGG>ATG p.R231M MYCL1_uc001ces.1_Missense_Mutation_p.R231M NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 231 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTGGGGACCCCTCTCTGAAGC 0.522 NA A small cell lung 12 210 1.05317e-09 1.2059e-09 0.00245 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52901105 52901105 + Nonsense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:52901105G>A uc001ctx.2 - 27 4426 c.4192C>T c.(4192-4194)CAA>TAA p.Q1398* ZCCHC11_uc001cty.2_Nonsense_Mutation_p.Q1399*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.Q1394*|ZCCHC11_uc001cua.1_Nonsense_Mutation_p.Q316* NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1398 Gln-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GCCACCTGTTGAGCATTTACA 0.433 NA 29 24 0 0 0.012213 0 0 PODN 127435 broad.mit.edu 37 1 53535678 53535678 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:53535678G>T uc001cuv.2 + 2 302 c.295G>T c.(295-297)GTG>TTG p.V99L PODN_uc001cuw.2_Missense_Mutation_p.V80L|PODN_uc010onr.1_Missense_Mutation_p.V80L|PODN_uc010ons.1_Missense_Mutation_p.V99L NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 51 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GGAGGAGCCGGTGCTGGTACT 0.682 NA 10 14 1.76689e-08 1.96379e-08 0.006214 1 0 GBP6 163351 broad.mit.edu 37 1 89834209 89834209 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:89834209G>C uc001dnf.2 + 2 373 c.99G>C c.(97-99)AAG>AAC p.K33N GBP6_uc010ost.1_Intron NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 33 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TTCTTGAAAAGATTTCTCAGC 0.473 NA 45 69 0 0 0.01441 0 0 HFM1 164045 broad.mit.edu 37 1 91727809 91727809 + Silent SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:91727809T>C uc001doa.3 - 38 4327 c.4227A>G c.(4225-4227)GAA>GAG p.E1409E HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.E1088E|HFM1_uc001dob.3_Silent_p.E597E NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1409 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) TGAAATCAACTTCCTTTTTAC 0.264 NA 14 13 0 0 0.00245 0 0 HFM1 164045 broad.mit.edu 37 1 91841230 91841230 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:91841230C>T uc001doa.3 - 12 1550 c.1450G>A c.(1450-1452)GAG>AAG p.E484K HFM1_uc010osu.1_Missense_Mutation_p.E163K|HFM1_uc010osv.1_Missense_Mutation_p.E168K NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 484 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) CTATGGCTCTCATCCATTTTC 0.368 NA 35 143 0 0 0.006999 0 0 HSP90B3P 343477 broad.mit.edu 37 1 92109200 92109200 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:92109200G>T uc010osx.1 + 3 1227 c.1227G>T c.(1225-1227)CGG>CGT p.R409R NR_003130 SubName: Full=cDNA FLJ58812, highly similar to Endoplasmin (Heat shock protein 90kDa beta member 1); 0 AGTACGGACGGTCTGGCAACA 0.453 NA 15 24 1.50039e-11 1.76599e-11 0.012319 1 0 EPS8L3 79574 broad.mit.edu 37 1 110293406 110293406 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:110293406C>A uc001dyr.1 - 18 1791 c.1646G>T c.(1645-1647)AGG>ATG p.R549M EPS8L3_uc001dys.1_Missense_Mutation_p.R519M|EPS8L3_uc001dyq.1_Missense_Mutation_p.R550M|EPS8L3_uc009wfm.1_Missense_Mutation_p.R486M NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 549 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCCAAGTGTCCTCACCGTGCT 0.607 NA 8 27 1.76689e-08 1.96379e-08 0.006214 1 0 SLC6A17 388662 broad.mit.edu 37 1 110709673 110709673 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:110709673C>T uc009wfq.2 + 2 583 c.122C>T c.(121-123)GCT>GTT p.A41V NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 41 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CTGAATGTGGCTGGTGAGGCA 0.612 NA 8 5 0 0 0.013537 0 0 TBX15 6913 broad.mit.edu 37 1 119427674 119427674 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:119427674C>A uc001ehl.1 - 8 1487 c.1172G>T c.(1171-1173)GGG>GTG p.G391V TBX15_uc009whj.1_Missense_Mutation_p.G215V NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 497 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GTGGCTGCCCCCGAACATGTG 0.557 NA 6 28 2.0095e-06 2.1698e-06 0.001984 1 0 NBPF9 400818 broad.mit.edu 37 1 144621558 144621558 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:144621558C>A uc009wig.1 + 9 966 c.890C>A c.(889-891)CCC>CAC p.P297H NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.P297H|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.P228H|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.P228H|NBPF9_uc010oyg.1_Missense_Mutation_p.P262H|NBPF9_uc009wii.1_Missense_Mutation_p.P26H NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 297 cytoplasm 0 AAATTGCACCCCCAGCTGGCA 0.483 NA 13 224 6.07407e-21 7.99331e-21 0.007291 1 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858184 149858184 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:149858184C>G uc001etc.2 - 1 49 c.7G>C c.(7-9)GAA>CAA p.E3Q HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 3 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTTGCCGGTTCAGGCATGGTA 0.512 NA 21 81 0 0 0.008871 0 0 HRNR 388697 broad.mit.edu 37 1 152187998 152187998 + Nonsense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:152187998G>C uc001ezt.1 - 3 6183 c.6107C>G c.(6106-6108)TCA>TGA p.S2036* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2036 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACTGACCTGAGCTAGCTCC 0.572 NA 25 654 0 0 0.007291 0 0 PBXIP1 57326 broad.mit.edu 37 1 154923837 154923837 + Missense_Mutation SNP G G A rs144138798 TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:154923837G>A uc001ffr.2 - 5 339 c.280C>T c.(280-282)CCT>TCT p.P94S PBXIP1_uc001ffs.2_Missense_Mutation_p.P65S|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 94 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCTGGGCCAGGAGGCTCCACA 0.622 NA 30 74 0 0 0.010818 0 0 MSTO2P 100129405 broad.mit.edu 37 1 155717651 155717651 + Silent SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:155717651A>T uc010pgn.1 + 8 788 c.777A>T c.(775-777)ATA>ATT p.I259I MSTO2P_uc010pgo.1_Silent_p.I286I|MSTO2P_uc010pgp.1_RNA NM_018116 NP_060586 misato 0 GGGGAATAATAACTTGGGGCC 0.542 NA 59 24 0 0 0.01441 0 0 BCAN 63827 broad.mit.edu 37 1 156626175 156626175 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:156626175G>T uc001fpp.2 + 9 2380 c.2044G>T c.(2044-2046)GAT>TAT p.D682Y NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 682 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGACCTGTGCGATGTTGGTGA 0.592 NA 46 109 8.86878e-18 1.13941e-17 0.01441 1 0 OR10K2 391107 broad.mit.edu 37 1 158389727 158389727 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:158389727G>A uc010pii.1 - 1 930 c.930C>T c.(928-930)TCC>TCT p.S310S NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TTTACAACAGGGAAATTGTTC 0.189 NA 23 51 0 0 0.00278 0 0 SPTA1 6708 broad.mit.edu 37 1 158618419 158618419 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:158618419C>T uc001fst.1 - 26 3793 c.3594G>A c.(3592-3594)CAG>CAA p.Q1198Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1198 Spectrin 12. 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) TCTTCTCAATCTGCTCCTTCG 0.507 NA 22 129 0 0 0.00278 0 0 B4GALT3 8703 broad.mit.edu 37 1 161141691 161141691 + Missense_Mutation SNP C C T rs111614721 byFrequency TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:161141691C>T uc001fyq.1 - 8 1359 c.1097G>A c.(1096-1098)CGT>CAT p.R366H PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.R146H|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.R366H|B4GALT3_uc001fys.1_Missense_Mutation_p.R366H NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 366 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CATCTCTTGACGGAAGGCTTG 0.607 NA 16 128 0 0 0.004007 0 0 NUF2 83540 broad.mit.edu 37 1 163317686 163317686 + Missense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:163317686A>T uc001gcq.1 + 12 1382 c.1082A>T c.(1081-1083)AAG>ATG p.K361M NUF2_uc001gcr.1_Missense_Mutation_p.K361M|NUF2_uc009wvc.1_Missense_Mutation_p.K314M NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 361 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AAAATAAATAAGAAGCATGAA 0.308 NA 34 39 0 0 0.00623 0 0 EDEM3 80267 broad.mit.edu 37 1 184681006 184681006 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:184681006C>A uc010pok.1 - 15 1803 c.1542G>T c.(1540-1542)TCG>TCT p.S514S EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.S514S NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 514 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 CTGTATATTCCGAGGTCTACA 0.269 NA 20 60 3.8784e-16 4.8512e-16 0.012319 1 0 F13B 2165 broad.mit.edu 37 1 197021763 197021763 + Splice_Site SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:197021763C>T uc001gtt.1 - 9 1599 c.1555_splice c.e9+1 p.E519_splice NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TATTATTTTACCTTTTCTAGT 0.313 NA 13 39 0 0 0.013537 0 0 ASPM 259266 broad.mit.edu 37 1 197101454 197101454 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:197101454C>G uc001gtu.2 - 7 2705 c.2448G>C c.(2446-2448)CTG>CTC p.L816L ASPM_uc001gtv.2_Silent_p.L816L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 816 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TGTAGGACAACAGCCAATTCA 0.308 NA 26 50 0 0 0.00632 0 0 CRB1 23418 broad.mit.edu 37 1 197446916 197446916 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:197446916G>A uc001gtz.2 + 12 4263 c.4128G>A c.(4126-4128)CAG>CAA p.Q1376Q CRB1_uc010poz.1_Silent_p.Q1352Q|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.Q1264Q|CRB1_uc010ppb.1_Silent_p.Q840Q|CRB1_uc010ppd.1_Silent_p.Q857Q NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1376 Cytoplasmic (Potential). 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 GGGCAACTCAGGGAACCTACA 0.517 NA 100 18 0 0 0.01441 0 0 FAM58B 339521 broad.mit.edu 37 1 200182760 200182760 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:200182760C>T uc009wzi.1 + 1 105 c.69C>T c.(67-69)GCC>GCT p.A23A NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 23 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) gagaggGTGCCGCAGCGCCGG 0.483 NA 9 11 0 0 0.010729 0 0 HHAT 55733 broad.mit.edu 37 1 210847693 210847693 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:210847693C>T uc009xcx.2 + 12 1620 c.1454C>T c.(1453-1455)GCC>GTC p.A485V HHAT_uc010psq.1_Missense_Mutation_p.A348V|HHAT_uc001hhz.3_Missense_Mutation_p.A485V|HHAT_uc010psr.1_Missense_Mutation_p.A486V|HHAT_uc010pss.1_Missense_Mutation_p.A440V|HHAT_uc009xcy.2_Missense_Mutation_p.A420V|HHAT_uc010pst.1_Missense_Mutation_p.A422V|HHAT_uc010psu.1_Missense_Mutation_p.A420V|HHAT_uc001hia.3_Missense_Mutation_p.A175V NM_001122834 NP_001116306 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 485 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GTGGGCATTGCCTGGGCCCAG 0.587 NA 45 64 0 0 0.010771 0 0 USH2A 7399 broad.mit.edu 37 1 215802231 215802231 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:215802231G>A uc001hku.1 - 71 15831 c.15444C>T c.(15442-15444)CTC>CTT p.L5148L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5148 Cytoplasmic (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAATGTCCATGAGCTGGCTGA 0.542 NA HNSCC(13;0.011) 41 106 0 0 0.01441 0 0 GUK1 2987 broad.mit.edu 37 1 228333279 228333279 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:228333279G>A uc001hsh.2 + 3 369 c.66G>A c.(64-66)AAG>AAA p.K22K GUK1_uc001hsi.2_Silent_p.K43K|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Silent_p.K22K NM_000858 NP_000849 Q16774 KGUA_HUMAN guanylate kinase 1 isoform b 22 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity 0 Prostate(94;0.0405) CCCTGCTGAAGAGGCTGCTCC 0.637 NA 14 30 0 0 0.006122 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454683 234454683 + Silent SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:234454683T>C uc001hwa.1 + 5 1162 c.934T>C c.(934-936)TTA>CTA p.L312L SLC35F3_uc001hvy.1_Silent_p.L381L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 312 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TTCAGTTCTTTTATTGAGTAA 0.438 NA 63 172 0 0 0.01441 0 0 OR11L1 391189 broad.mit.edu 37 1 248004695 248004695 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:248004695G>A uc001idn.1 - 1 504 c.504C>T c.(502-504)TTC>TTT p.F168F NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCGCCCACAGAAGTCCAACC 0.542 NA 69 128 0 0 0.01441 0 0 OR2T4 127074 broad.mit.edu 37 1 248525769 248525769 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:248525769C>T uc001ieh.1 + 1 887 c.887C>T c.(886-888)TCC>TTC p.S296F NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 296 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCCCAGCTCCTACCACACC 0.517 NA 81 198 0 0 0.01441 0 0 FBXO18 84893 broad.mit.edu 37 10 5955790 5955790 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:5955790C>T uc001iis.2 + 7 1387 c.1292C>T c.(1291-1293)TCT>TTT p.S431F FBXO18_uc001iir.2_Missense_Mutation_p.S357F|FBXO18_uc009xig.2_Missense_Mutation_p.S357F|FBXO18_uc001iit.2_Missense_Mutation_p.S482F NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 431 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GAGGAGCCATCTGTCTGGCCA 0.413 NA 29 61 0 0 0.003755 0 0 OLAH 55301 broad.mit.edu 37 10 15107658 15107658 + Nonsense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:15107658G>T uc001inu.2 + 6 732 c.478G>T c.(478-480)GGA>TGA p.G160* ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Nonsense_Mutation_p.G213* NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 160 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 TATGGAATTTGGAGGCACCCC 0.413 NA 34 60 1.26612e-14 1.55294e-14 0.003271 1 0 PCDH15 65217 broad.mit.edu 37 10 55700697 55700697 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:55700697A>G uc001jju.1 - 24 3556 c.3161T>C c.(3160-3162)ATG>ACG p.M1054T PCDH15_uc010qhq.1_Missense_Mutation_p.M1059T|PCDH15_uc010qhr.1_Missense_Mutation_p.M1054T|PCDH15_uc010qhs.1_Missense_Mutation_p.M1066T|PCDH15_uc010qht.1_Missense_Mutation_p.M1061T|PCDH15_uc010qhu.1_Missense_Mutation_p.M1054T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.M1054T|PCDH15_uc010qhw.1_Missense_Mutation_p.M1017T|PCDH15_uc010qhx.1_Missense_Mutation_p.M983T|PCDH15_uc010qhy.1_Missense_Mutation_p.M1059T|PCDH15_uc010qhz.1_Missense_Mutation_p.M1054T|PCDH15_uc010qia.1_Missense_Mutation_p.M1032T|PCDH15_uc010qib.1_Missense_Mutation_p.M1032T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1054 Cadherin 10.|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) TACACCAACCATGGTCCCTTT 0.338 NA HNSCC(58;0.16) 7 46 0 0 0.004482 0 0 BICC1 80114 broad.mit.edu 37 10 60588570 60588570 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:60588570C>T uc001jki.1 + 21 2844 c.2844C>T c.(2842-2844)ACC>ACT p.T948T NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 948 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 ATGCACGCACCTCTTTCCTGG 0.468 NA 16 48 0 0 0.008871 0 0 CDK1 983 broad.mit.edu 37 10 62547906 62547906 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:62547906T>A uc001jld.2 + 5 541 c.407T>A c.(406-408)ATT>AAT p.I136N CDK1_uc010qii.1_3'UTR|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.I136N|CDK1_uc001jlg.2_Intron NM_001786 NP_001777 P06493 CDK1_HUMAN cell division cycle 2 isoform 1 136 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 AATCTCTTGATTGATGACAAA 0.378 NA 55 54 0 0 0.01441 0 0 CTNNA3 29119 broad.mit.edu 37 10 68280485 68280485 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:68280485G>A uc009xpn.1 - 11 1544 c.1421C>T c.(1420-1422)GCG>GTG p.A474V CTNNA3_uc001jmw.2_Missense_Mutation_p.A474V|CTNNA3_uc001jmx.3_Missense_Mutation_p.A474V NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 474 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GTTTTTGACCGCTTGACTTTT 0.308 NA 61 85 0 0 0.01441 0 0 SLC29A3 55315 broad.mit.edu 37 10 73121984 73121984 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:73121984C>T uc001jrr.3 + 6 1104 c.1047C>T c.(1045-1047)CTC>CTT p.L349L SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L203L|SLC29A3_uc001jrt.3_Silent_p.L143L|SLC29A3_uc001jru.3_Silent_p.L161L NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 349 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 TCATCCCCCTCACTACCTTCC 0.582 Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 100 152 0 0 0.01441 0 0 CC2D2B 387707 broad.mit.edu 37 10 97769676 97769676 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:97769676C>A uc001kll.2 + 3 315 c.116C>A c.(115-117)TCT>TAT p.S39Y uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.S39Y NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 39 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CTGCAACAATCTGAGGTAAGA 0.398 NA 18 75 7.41877e-09 8.34337e-09 0.012319 1 0 DNMBP 23268 broad.mit.edu 37 10 101646282 101646282 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:101646282G>C uc001kqj.2 - 13 3485 c.3393C>G c.(3391-3393)TTC>TTG p.F1131L DNMBP_uc010qpl.1_Missense_Mutation_p.F67L|DNMBP_uc001kqg.2_Missense_Mutation_p.F419L|DNMBP_uc001kqh.2_Missense_Mutation_p.F763L NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1131 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TACAGTTATAGAAGTCCAGGA 0.517 NA 104 114 0 0 0.01441 0 0 PDCD11 22984 broad.mit.edu 37 10 105191887 105191887 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:105191887G>C uc001kwy.1 + 22 3457 c.3370G>C c.(3370-3372)GAG>CAG p.E1124Q NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1124 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGCAAACAGTGAGCTGGAGGA 0.473 NA 43 68 0 0 0.01441 0 0 SORCS3 22986 broad.mit.edu 37 10 106970956 106970956 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:106970956G>T uc001kyi.1 + 17 2550 c.2323G>T c.(2323-2325)GCA>TCA p.A775S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 775 Lumenal (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) GTACAATCCAGCATCCCCATC 0.453 NSCLC(116;1497 1690 7108 13108 14106) NA 20 25 1.28384e-07 1.40223e-07 0.012319 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114192186 114192186 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:114192186G>T uc001kzv.2 - 9 1463 c.1039C>A c.(1039-1041)CCT>ACT p.P347T ZDHHC6_uc001kzw.2_Missense_Mutation_p.P343T NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 347 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TGTATTCGAGGCTCTTCGGTG 0.403 NA 39 133 1.03484e-13 1.24905e-13 0.005524 1 0 NRAP 4892 broad.mit.edu 37 10 115422452 115422452 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:115422452C>G uc001laj.2 - 3 405 c.241G>C c.(241-243)GAG>CAG p.E81Q NRAP_uc001lak.2_Missense_Mutation_p.E81Q|NRAP_uc001lal.3_Missense_Mutation_p.E81Q NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 81 Nebulin 1. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTGATGGCCTCTGGAAATGTC 0.234 NA 44 76 0 0 0.01441 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360714 118360714 + Splice_Site SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:118360714G>T uc001lco.1 + 10 1081 c.1063_splice c.e10+1 p.R355_splice PNLIPRP1_uc001lcp.2_Splice_Site_p.R355_splice NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AATTTCGCTCGTAAGTTGCAC 0.418 NA 11 52 9.31168e-06 9.96928e-06 0.001855 1 0 RGS10 6001 broad.mit.edu 37 10 121275047 121275047 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:121275047G>A uc001lee.2 - 3 349 c.349C>T c.(349-351)CTG>TTG p.L117L RGS10_uc001lef.2_Silent_p.L111L|RGS10_uc001leg.2_Silent_p.L125L NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 117 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) TGGAACATCAGAGGGTGCGGT 0.507 NA 31 27 0 0 0.013726 0 0 BTBD16 118663 broad.mit.edu 37 10 124043431 124043431 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:124043431G>T uc001lgc.1 + 4 484 c.233G>T c.(232-234)GGG>GTG p.G78V BTBD16_uc001lgd.1_Missense_Mutation_p.G77V NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 78 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) ATCCAAAGTGGGGAAGCAGGT 0.398 NA 19 41 3.5997e-14 4.37271e-14 0.014323 1 0 DMBT1 1755 broad.mit.edu 37 10 124395614 124395614 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:124395614C>T uc001lgk.1 + 50 6375 c.6269C>T c.(6268-6270)TCT>TTT p.S2090F DMBT1_uc001lgl.1_Missense_Mutation_p.S2080F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1462F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2089F|DMBT1_uc010qtx.1_Missense_Mutation_p.S810F|DMBT1_uc009yab.1_Missense_Mutation_p.S793F|DMBT1_uc009yac.1_Missense_Mutation_p.S384F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2090 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCTTCACTTCTTCCTCCAAC 0.522 Ovarian(182;93 2026 18125 22222 38972) NA 12 40 0 0 0.013537 0 0 FANK1 92565 broad.mit.edu 37 10 127697946 127697946 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:127697946T>C uc001ljh.3 + 11 1081 c.977T>C c.(976-978)GTA>GCA p.V326A FANK1_uc009yan.2_Missense_Mutation_p.V352A|FANK1_uc001lji.2_3'UTR NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 326 cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) ATCTAGAGTGTAGTCTCCTTA 0.403 NA 20 64 0 0 0.012319 0 0 FOXI2 399823 broad.mit.edu 37 10 129536807 129536807 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:129536807G>A uc009yas.2 + 2 535 c.535G>A c.(535-537)GAC>AAC p.D179N uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 179 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CTGGACCCTGGACCCCAACTG 0.587 Esophageal Squamous(54;1038 1280 2528 31583) NA 4 7 0 0 0.000602 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133958651 133958651 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:133958651C>T uc001lkx.3 + 11 1643 c.1643C>T c.(1642-1644)GCG>GTG p.A548V JAKMIP3_uc009yba.1_5'UTR NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGGCACAGGCGCGGATAGAG 0.602 NA 6 18 0 0 0.004482 0 0 Unknown 0 broad.mit.edu 37 10 134628115 134628115 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr10:134628115G>A uc010qux.1 - 45 6429 c.6429C>T c.(6427-6429)TTC>TTT p.F2143F NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA GGTCCACGACGACTGGGTCCC 0.662 NA 4 3 0 0 0.000602 0 0 ATHL1 80162 broad.mit.edu 37 11 292927 292927 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:292927C>T uc010qvu.1 + 7 1315 c.1200C>T c.(1198-1200)GTC>GTT p.V400V ATHL1_uc001lor.3_Silent_p.V223V|ATHL1_uc001los.1_Silent_p.V400V|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 400 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GGGACGTGGTCAGGGCTGTGG 0.642 NA 5 38 0 0 0.00308 0 0 OR52E4 390081 broad.mit.edu 37 11 5905694 5905694 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:5905694C>G uc010qzs.1 + 1 172 c.172C>G c.(172-174)CAC>GAC p.H58D TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATAGTCTACACCAGCCCAT 0.418 NA 60 105 0 0 0.01441 0 0 OR56A1 120796 broad.mit.edu 37 11 6048374 6048374 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:6048374G>T uc010qzw.1 - 1 561 c.561C>A c.(559-561)GCC>GCA p.A187A NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGACAAGTTGGCACAGATGC 0.473 NA 47 64 8.72198e-27 1.20205e-26 0.01441 1 0 OR2AG2 338755 broad.mit.edu 37 11 6789756 6789756 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:6789756C>T uc001meq.1 - 1 433 c.433G>A c.(433-435)GTG>ATG p.V145M NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GATGTGGCCACCATGATCCAG 0.512 NA 32 39 0 0 0.004289 0 0 ZNF214 7761 broad.mit.edu 37 11 7022088 7022088 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:7022088C>T uc001mfa.2 - 3 1129 c.826G>A c.(826-828)GGA>AGA p.G276R ZNF214_uc010ray.1_Missense_Mutation_p.G276R|ZNF214_uc009yfh.1_Missense_Mutation_p.G276R NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 276 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCATCACATCCGTACAGCTTC 0.438 Ovarian(22;251 657 736 21522 46864) NA 76 101 0 0 0.01441 0 0 QSER1 79832 broad.mit.edu 37 11 32990614 32990614 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:32990614G>T uc001mty.2 + 10 5010 c.4743G>T c.(4741-4743)ATG>ATT p.M1581I QSER1_uc001mtz.1_Missense_Mutation_p.M1342I|QSER1_uc001mua.2_Missense_Mutation_p.M1086I NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1581 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TACCTCATATGAAAAAAATAG 0.274 NA 14 53 2.94398e-08 3.24352e-08 0.007413 1 0 ALX4 60529 broad.mit.edu 37 11 44286612 44286612 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:44286612G>A uc001myb.2 - 4 1132 c.1028C>T c.(1027-1029)GCC>GTC p.A343V NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 343 hair follicle development 0 GACGCTGCTGGCCCCAGAGCC 0.692 NA 7 23 0 0 0.004482 0 0 OR5M9 390162 broad.mit.edu 37 11 56230566 56230566 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:56230566G>T uc010rjj.1 - 1 312 c.312C>A c.(310-312)GCC>GCA p.A104A NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CGTGGACAACGGCAATGAAAA 0.473 NA 43 58 8.20599e-20 1.07244e-19 0.011902 1 0 OR5AN1 390195 broad.mit.edu 37 11 59132388 59132388 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:59132388G>A uc010rks.1 + 1 457 c.457G>A c.(457-459)GGC>AGC p.G153S NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTACATGACTGGCCTCACTGC 0.468 NA 50 141 0 0 0.01441 0 0 CD6 923 broad.mit.edu 37 11 60785317 60785317 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:60785317C>T uc001nqq.2 + 11 1892 c.1669C>T c.(1669-1671)CAC>TAC p.H557Y CD6_uc001nqp.2_Missense_Mutation_p.H557Y|CD6_uc001nqr.2_Missense_Mutation_p.H525Y|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.H516Y NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 557 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 CCCTCAGTATCACCCGAGGAG 0.552 Pancreas(169;904 2017 4767 38890 42505) NA 51 59 0 0 0.01441 0 0 DPF2 5977 broad.mit.edu 37 11 65113779 65113779 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:65113779G>T uc001odm.2 + 9 978 c.966G>T c.(964-966)TGG>TGT p.W322C DPF2_uc001odn.2_Missense_Mutation_p.W336C|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 322 PHD-type 1. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CATACCGCTGGCAGTGCATCG 0.547 NA 7 42 0.00448238 0.00460385 0.004482 1 0 CARNS1 57571 broad.mit.edu 37 11 67191644 67191644 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:67191644C>T uc009yrp.2 + 9 2508 c.2056C>T c.(2056-2058)CGG>TGG p.R686W PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.R825W NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 686 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 GGCTGGGCCTCGGCTTATCGA 0.607 NA 20 17 0 0 0.014323 0 0 TPCN2 219931 broad.mit.edu 37 11 68835056 68835056 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:68835056C>T uc001oos.2 + 8 928 c.812C>T c.(811-813)ACG>ATG p.T271M TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.T186M|TPCN2_uc010rqg.1_Missense_Mutation_p.T271M NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 271 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGCTGACCACGGCCAACAAC 0.642 NA 43 44 0 0 0.010771 0 0 ODZ4 26011 broad.mit.edu 37 11 78433860 78433860 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:78433860G>T uc001ozl.3 - 24 4116 c.3653C>A c.(3652-3654)CCC>CAC p.P1218H NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1218 Extracellular (Potential).|NHL 1. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTTGCAGCTGGGGCAGGAGAT 0.582 NA 14 44 2.4624e-09 2.78582e-09 0.008871 1 0 FAT3 120114 broad.mit.edu 37 11 92534618 92534618 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:92534618C>G uc001pdj.3 + 9 8456 c.8439C>G c.(8437-8439)GTC>GTG p.V2813V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2813 Extracellular (Potential).|Cadherin 25. 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) ACAAGCCAGTCTTTGAAACTT 0.418 NA TCGA Ovarian(4;0.039) 7 19 0 0 0.013537 0 0 FAM55A 120400 broad.mit.edu 37 11 114401171 114401171 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:114401171C>G uc001ppa.2 - 3 550 c.133G>C c.(133-135)GAA>CAA p.E45Q FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E187Q NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 187 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GACGCCCCTTCACTGGGGTGG 0.502 NA 30 45 0 0 0.003271 0 0 UBE4A 9354 broad.mit.edu 37 11 118250358 118250358 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:118250358C>T uc001psw.2 + 11 1898 c.1769C>T c.(1768-1770)TCC>TTC p.S590F UBE4A_uc001psv.2_Missense_Mutation_p.S597F NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 590 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTGCAGGTGTCCATGGCTGTT 0.473 NA 36 48 0 0 0.007835 0 0 OR6T1 219874 broad.mit.edu 37 11 123814374 123814374 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:123814374G>T uc010sab.1 - 1 172 c.172C>A c.(172-174)CAG>AAG p.Q58K NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AAGTACATCTGTATGTGCAGG 0.502 NA 23 111 3.28513e-13 3.95258e-13 0.003954 1 0 VSIG2 23584 broad.mit.edu 37 11 124621476 124621476 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:124621476C>T uc001qas.2 - 2 138 c.62G>A c.(61-63)GGG>GAG p.G21E VSIG2_uc001qat.2_Missense_Mutation_p.G21E NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 21 Missing (in Ref. 1; AAD17522). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CACGGCCAGCCCTGGGGCCGG 0.667 NA 13 38 0 0 0.013537 0 0 PRDM10 56980 broad.mit.edu 37 11 129814846 129814846 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr11:129814846C>G uc001qfm.2 - 6 814 c.582G>C c.(580-582)CCG>CCC p.P194P PRDM10_uc001qfj.2_Silent_p.P108P|PRDM10_uc001qfk.2_Silent_p.P108P|PRDM10_uc001qfl.2_Silent_p.P108P|PRDM10_uc010sbx.1_Silent_p.P108P|PRDM10_uc001qfn.2_Silent_p.P194P|PRDM10_uc009zct.1_Silent_p.P226P NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGTTGGGGATCGGGTGCAAGG 0.607 NA 29 33 0 0 0.007291 0 0 NRIP2 83714 broad.mit.edu 37 12 2943997 2943997 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:2943997C>G uc001qlc.2 - 1 225 c.153G>C c.(151-153)ATG>ATC p.M51I NRIP2_uc010sed.1_Missense_Mutation_p.M51I|uc009zdz.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 51 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTTGGTGCTCATGGCCCCTG 0.677 NA 30 419 0 0 0.013726 0 0 PRMT8 56341 broad.mit.edu 37 12 3686040 3686040 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:3686040G>T uc001qmf.2 + 7 1083 c.716G>T c.(715-717)TGG>TTG p.W239L PRMT8_uc009zed.2_Missense_Mutation_p.W230L|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.W53L NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 239 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCCACAGGGTGGGAGAATGTC 0.592 NA 560 190 1.33697e-226 1.97935e-226 0.01441 1 0 IFFO1 25900 broad.mit.edu 37 12 6658970 6658970 + Silent SNP G G A rs138562505 TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:6658970G>A uc001qpd.1 - 4 1057 c.1023C>T c.(1021-1023)TGC>TGT p.C341C IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Silent_p.C18C|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.C341C|IFFO1_uc001qpf.1_Silent_p.C341C|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Silent_p.C341C|IFFO1_uc001qpg.2_5'Flank NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 341 intermediate filament 0 GAGCCACATCGCAGAGCTTGG 0.602 NA 71 21 0 0 0.01441 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061032 11061032 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:11061032C>G uc001qzg.1 - 1 1130 c.866G>C c.(865-867)AGA>ACA p.R289T PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 289 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 AAAGGCCTGTCTTAACTTAGC 0.418 NA 29 244 0 0 0.010818 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 15 1.00905e-13 1.22182e-13 0.008871 1 0 ITPR2 3709 broad.mit.edu 37 12 26749907 26749907 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:26749907C>T uc001rhg.2 - 31 4580 c.4163G>A c.(4162-4164)GGG>GAG p.G1388E NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1388 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GACATTTTTCCCCTCTGTGCA 0.532 NA 178 66 0 0 0.01441 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846211 43846211 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:43846211C>A uc010skx.1 - 14 1945 c.1945G>T c.(1945-1947)GGC>TGC p.G649C NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 649 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCTTTGTGCCAACTGTAAAA 0.323 NA 16 66 8.28177e-16 1.0325e-15 0.007413 1 0 OR10AD1 121275 broad.mit.edu 37 12 48596695 48596695 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:48596695G>A uc001rrl.1 - 1 381 c.381C>T c.(379-381)ATC>ATT p.I127I NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTGGGTAGCAGATAGCAACAT 0.488 NA 22 31 0 0 0.004656 0 0 GLS2 27165 broad.mit.edu 37 12 56881845 56881845 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:56881845G>C uc001slj.2 - 1 337 c.58C>G c.(58-60)CGA>GGA p.R20G GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_5'UTR|GLS2_uc009zot.2_5'UTR|GLS2_uc001sll.2_RNA NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 20 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGCCTCCTCGCCCGCAGTGA 0.726 NA 9 4 0 0 0.008291 0 0 ATP5B 506 broad.mit.edu 37 12 57037225 57037225 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:57037225C>T uc001slr.2 - 5 859 c.754G>A c.(754-756)GAA>AAA p.E252K NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 252 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 ACACCAGATTCAATCATTTCA 0.428 NA 62 147 0 0 0.01441 0 0 PRIM1 5557 broad.mit.edu 37 12 57136825 57136825 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:57136825C>T uc001smd.2 - 7 758 c.694G>A c.(694-696)GAT>AAT p.D232N PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_RNA NM_000946 NP_000937 P49642 PRI1_HUMAN DNA primase polypeptide 1 232 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding 0 TCGAGAATATCTTGATTAACC 0.323 NA 4 6 0 0 0.009096 0 0 GLI1 2735 broad.mit.edu 37 12 57863398 57863398 + Missense_Mutation SNP T T G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:57863398T>G uc001snx.2 + 11 1571 c.1493T>G c.(1492-1494)CTT>CGT p.L498R GLI1_uc009zpq.2_Missense_Mutation_p.L370R NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 498 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CTTCGCCGCCTTGAGAACCTC 0.602 Pancreas(157;841 1936 10503 41495 50368) NA 19 101 0 0 0.01441 0 0 PTPRB 5787 broad.mit.edu 37 12 71016248 71016249 + Missense_Mutation DNP GG GG AT TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:71016248_71016249GG>AT uc001swc.3 - 3 673_674 c.629_630CC>AT c.(628-630)CCC>CAT p.P210H PTPRB_uc001swa.3_Missense_Mutation_p.P210H|PTPRB_uc001swd.3_Missense_Mutation_p.P209H|PTPRB_uc009zrr.1_Missense_Mutation_p.P89H|PTPRB_uc001swe.2_Missense_Mutation_p.P210H NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTGCAGATTGGGATGCTGCCT 0.49 NA 29 77 0 0 0.004672 0 0 LGR5 8549 broad.mit.edu 37 12 71978259 71978259 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:71978259C>T uc001swl.2 + 18 2517 c.2469C>T c.(2467-2469)TTC>TTT p.F823F LGR5_uc001swm.2_Silent_p.F799F|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 823 Helical; Name=7; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 ACATCTTGTTCAATCCTCACT 0.408 NA 52 103 0 0 0.01441 0 0 PPFIA2 8499 broad.mit.edu 37 12 82070623 82070623 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:82070623C>A uc001szo.1 - 4 411 c.250G>T c.(250-252)GAT>TAT p.D84Y PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 GATTCGATATCCTGAAAAGGG 0.418 NA 12 28 2.31682e-05 2.47345e-05 0.003163 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100451895 100451895 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:100451895G>A uc001tgq.2 - 14 3389 c.3160C>T c.(3160-3162)CCA>TCA p.P1054S UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.P704S NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1054 ovary(2) 2 GCTGCTTCTGGAAGCAAATCT 0.353 NA 68 106 0 0 0.01441 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660779 100660779 + Nonsense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:100660779G>A uc001thi.2 - 1 79 c.76C>T c.(76-78)CAG>TAG p.Q26* SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Nonsense_Mutation_p.Q26*|DEPDC4_uc009ztv.1_Nonsense_Mutation_p.Q26*|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 26 intracellular signal transduction 0 AGCTCGTTCTGACTGACAAGT 0.612 NA 60 111 0 0 0.01441 0 0 UTP20 27340 broad.mit.edu 37 12 101702085 101702085 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:101702085G>A uc001tia.1 + 18 2274 c.2118G>A c.(2116-2118)GTG>GTA p.V706V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 706 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GACATGATGTGGTACAGACTG 0.388 NA 47 100 0 0 0.01441 0 0 C12orf42 374470 broad.mit.edu 37 12 103700057 103700057 + Missense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:103700057A>T uc001tjt.2 - 5 414 c.326T>A c.(325-327)GTC>GAC p.V109D C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.V109D|C12orf42_uc001tju.2_Missense_Mutation_p.V14D NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 109 ovary(1)|central_nervous_system(1) 2 ACACCTGGGGACTATGTACTG 0.403 NA 9 25 0 0 0.004482 0 0 SLC41A2 84102 broad.mit.edu 37 12 105321916 105321916 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:105321916T>A uc001tla.2 - 1 557 c.390A>T c.(388-390)TTA>TTT p.L130F NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 130 Extracellular. integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 CTTCATCTTGTAACATGGCAG 0.403 Esophageal Squamous(195;176 2919 4272 35572) NA 117 176 0 0 0.01441 0 0 ISCU 23479 broad.mit.edu 37 12 108959109 108959109 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:108959109G>A uc010sxc.1 + 3 346 c.241G>A c.(241-243)GAA>AAA p.E81K ISCU_uc010sxa.1_Missense_Mutation_p.E81K|ISCU_uc010sxb.1_Missense_Mutation_p.E81K|ISCU_uc001tnc.3_Missense_Mutation_p.E56K|ISCU_uc009zuy.2_Missense_Mutation_p.E56K|ISCU_uc010sxd.1_Missense_Mutation_p.E81K NM_213595 NP_998760 Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme isoform 81 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold 0 TCAAGTGGATGAAAAGGGGAA 0.493 NA 22 65 0 0 0.009535 0 0 MYO1H 283446 broad.mit.edu 37 12 109853404 109853404 + Nonsense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:109853404G>T uc010sxn.1 + 14 1528 c.1528G>T c.(1528-1530)GAG>TAG p.E510* NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 CTATGCAGGAGAGGTCACATA 0.552 NA 7 10 0.00307968 0.00318038 0.00308 1 0 C12orf51 283450 broad.mit.edu 37 12 112622801 112622801 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:112622801G>T uc009zwc.2 - 54 8721 c.8703C>A c.(8701-8703)TCC>TCA p.S2901S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGCCCGACGAGGAGGCCTTTT 0.632 NA 4 14 3.09899e-07 3.36537e-07 0.004482 1 0 MED13L 23389 broad.mit.edu 37 12 116413452 116413452 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:116413452G>A uc001tvw.2 - 24 5511 c.5456C>T c.(5455-5457)GCG>GTG p.A1819V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1819 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TTTCTGGCTCGCCTCACCAAA 0.522 NA 25 54 0 0 0.005443 0 0 MLXIP 22877 broad.mit.edu 37 12 122625515 122625515 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:122625515C>G uc001ubq.2 + 16 2523 c.2523C>G c.(2521-2523)ATC>ATG p.I841M MLXIP_uc001ubt.2_Missense_Mutation_p.I448M NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 841 Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GCATCATCATCAAGCCGCTGT 0.597 Esophageal Squamous(105;787 1493 16200 18566 52466) NA 33 41 0 0 0.01441 0 0 IL31 386653 broad.mit.edu 37 12 122657100 122657100 + Missense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:122657100A>T uc001ubv.2 - 3 381 c.354T>A c.(352-354)GAT>GAA p.D118E LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron NM_001014336 NP_001014358 Q6EBC2 IL31_HUMAN interleukin 31 precursor 118 extracellular space cytokine activity central_nervous_system(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) TTTCTGGTGCATCTTGAAATA 0.438 NA 68 115 0 0 0.01441 0 0 POLE 5426 broad.mit.edu 37 12 133237666 133237666 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr12:133237666C>G uc001uks.1 - 25 2993 c.2949G>C c.(2947-2949)AAG>AAC p.K983N POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.K956N NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 983 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATTGGAAGATCTTAATCAGCT 0.517 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 120 228 0 0 0.01441 0 0 DIS3 22894 broad.mit.edu 37 13 73346338 73346338 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr13:73346338C>T uc001vix.3 - 10 1836 c.1462G>A c.(1462-1464)GAT>AAT p.D488N DIS3_uc001viy.3_Missense_Mutation_p.D458N|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 488 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TGTAGAGCATCGTCTATATCA 0.363 NA Multiple Myeloma(4;0.011) 15 39 0 0 0.004007 0 0 OR11H6 122748 broad.mit.edu 37 14 20692096 20692096 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:20692096C>A uc010tlc.1 + 1 228 c.228C>A c.(226-228)CCC>CCA p.P76P NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCCACACACCCATGTACATCC 0.463 NA 31 101 6.38683e-12 7.5644e-12 0.008361 1 0 RNASE12 493901 broad.mit.edu 37 14 21058864 21058864 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:21058864T>C uc001vxt.2 - 1 119 c.19A>G c.(19-21)ATT>GTT p.I7V RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_RNA NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 7 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) ACCAAGAAAATTATCACCATT 0.403 NA 70 65 0 0 0.01441 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238647 21238647 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:21238647G>T uc001vyd.2 + 2 436 c.338G>T c.(337-339)AGC>ATC p.S113I NM_022360 NP_071755 P56851 EP3B_HUMAN human epididymis-specific 3 beta precursor 113 spermatid development extracellular region ovary(1) 1 TCCAAAAATAGCTACACAGAG 0.438 NA 49 53 1.61004e-24 2.18711e-24 0.01441 1 0 MYH7 4625 broad.mit.edu 37 14 23883231 23883231 + Silent SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:23883231G>C uc001wjx.2 - 38 5746 c.5640C>G c.(5638-5640)CGC>CGG p.R1880R NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1880 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCTCGGCCTGGCGCTTGTAGG 0.652 NA 13 63 0 0 0.012319 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884150 24884150 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:24884150G>T uc001wpf.3 + 9 3513 c.3195G>T c.(3193-3195)CTG>CTT p.L1065L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1065 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CTCCCTACCTGGGCATCCCCT 0.637 NA 46 76 5.13769e-22 6.85628e-22 0.01441 1 0 GZMB 3002 broad.mit.edu 37 14 25100341 25100341 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:25100341G>A uc001wps.2 - 5 746 c.680C>T c.(679-681)CCA>CTA p.P227L GZMB_uc010ama.2_Missense_Mutation_p.P215L|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 227 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) GCAGGCTCGTGGAGGCATGCC 0.498 NA 37 103 0 0 0.00623 0 0 CTAGE5 4253 broad.mit.edu 37 14 39769164 39769164 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:39769164C>G uc001wvg.3 + 9 1105 c.769C>G c.(769-771)CTA>GTA p.L257V CTAGE5_uc010tqe.1_Missense_Mutation_p.L219V|CTAGE5_uc001wuz.3_Missense_Mutation_p.L245V|CTAGE5_uc001wuy.3_Missense_Mutation_p.L177V|CTAGE5_uc001wvb.3_Missense_Mutation_p.L228V|CTAGE5_uc001wvc.3_Missense_Mutation_p.L202V|CTAGE5_uc001wva.3_Missense_Mutation_p.L228V|CTAGE5_uc001wve.1_Missense_Mutation_p.L233V|CTAGE5_uc001wvh.3_Missense_Mutation_p.L257V|CTAGE5_uc001wvf.3_Missense_Mutation_p.L182V|CTAGE5_uc001wvi.3_Missense_Mutation_p.L262V|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.L228V NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 257 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AGAACAAGTTCTAAATGATAA 0.338 NA 37 45 0 0 0.005524 0 0 CTAGE5 4253 broad.mit.edu 37 14 39796151 39796151 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:39796151C>T uc001wvg.3 + 20 2092 c.1756C>T c.(1756-1758)CAT>TAT p.H586Y CTAGE5_uc010tqe.1_Missense_Mutation_p.H548Y|CTAGE5_uc001wuz.3_Missense_Mutation_p.H574Y|CTAGE5_uc001wuy.3_Missense_Mutation_p.H506Y|CTAGE5_uc001wvb.3_Missense_Mutation_p.H514Y|CTAGE5_uc001wvc.3_Missense_Mutation_p.H488Y|CTAGE5_uc001wva.3_Missense_Mutation_p.H557Y|CTAGE5_uc001wvh.3_Missense_Mutation_p.H543Y|CTAGE5_uc001wvf.3_Missense_Mutation_p.H511Y|CTAGE5_uc001wvi.3_Missense_Mutation_p.H591Y|CTAGE5_uc010amz.2_Missense_Mutation_p.H202Y|CTAGE5_uc001wvj.3_Missense_Mutation_p.H557Y NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 586 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AACCGATCCTCATAGGGCTCC 0.463 NA 39 57 0 0 0.00623 0 0 LRFN5 145581 broad.mit.edu 37 14 42356779 42356779 + Silent SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:42356779A>T uc001wvm.2 + 3 2149 c.951A>T c.(949-951)GCA>GCT p.A317A LRFN5_uc010ana.2_Silent_p.A317A NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 317 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGAGCCTGCAATTCACTGGA 0.468 NA HNSCC(30;0.082) 53 122 0 0 0.01441 0 0 TRIM9 114088 broad.mit.edu 37 14 51561379 51561379 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:51561379C>T uc001wyx.3 - 1 1044 c.279G>A c.(277-279)CAG>CAA p.Q93Q TRIM9_uc001wyy.2_Silent_p.Q93Q|TRIM9_uc001wyz.3_Silent_p.Q93Q NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 93 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) TGGGGGACTTCTGGCACGGGG 0.667 NA 7 13 0 0 0.001984 0 0 TXNDC16 57544 broad.mit.edu 37 14 52936818 52936818 + Nonsense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:52936818T>A uc001wzs.2 - 16 2004 c.1555A>T c.(1555-1557)AAA>TAA p.K519* TXNDC16_uc010tqu.1_Nonsense_Mutation_p.K514*|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 519 cell redox homeostasis extracellular region 0 Breast(41;0.0716) ATGAGGTCTTTATATAATTCC 0.333 NA 32 37 0 0 0.003755 0 0 C14orf39 317761 broad.mit.edu 37 14 60938435 60938435 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:60938435A>G uc001xez.3 - 6 456 c.346T>C c.(346-348)TGT>CGT p.C116R C14orf39_uc010apo.2_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 116 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TTATACTGACATATATAATCA 0.274 NA 18 13 0 0 0.006122 0 0 SLC39A9 55334 broad.mit.edu 37 14 69908952 69908952 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:69908952G>A uc001xle.2 + 3 1052 c.372G>A c.(370-372)CAG>CAA p.Q124Q SLC39A9_uc010aqx.2_Silent_p.Q124Q|SLC39A9_uc001xlf.3_Silent_p.Q124Q|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 124 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) TGGTGGACCAGATTGGTAACT 0.478 NA 48 223 0 0 0.01441 0 0 KIAA0317 9870 broad.mit.edu 37 14 75142577 75142577 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:75142577T>C uc001xqb.2 - 8 1410 c.905A>G c.(904-906)TAT>TGT p.Y302C KIAA0317_uc010tut.1_Missense_Mutation_p.Y141C|KIAA0317_uc001xqc.2_Missense_Mutation_p.Y302C NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 302 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) GGTAGCATTATAAAGATAAGC 0.468 NA 46 198 0 0 0.010771 0 0 TSHR 7253 broad.mit.edu 37 14 81610058 81610058 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:81610058C>T uc001xvd.1 + 10 1812 c.1656C>T c.(1654-1656)CTC>CTT p.L552L NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 552 Helical; Name=4; (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GCTTCCTTCTCGCCCTGCTTC 0.557 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 29 131 0 0 0.008361 0 0 SETD3 84193 broad.mit.edu 37 14 99879343 99879343 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:99879343C>A uc001ygc.2 - 8 964 c.794G>T c.(793-795)CGC>CTC p.R265L SETD3_uc001ygd.2_Missense_Mutation_p.R265L|SETD3_uc001ygf.2_Missense_Mutation_p.R265L NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 265 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CAGGGTCACGCGGGAACCATC 0.473 NA 23 40 4.26978e-12 5.07287e-12 0.00333 1 0 AHNAK2 113146 broad.mit.edu 37 14 105411354 105411354 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr14:105411354G>C uc010axc.1 - 7 10554 c.10434C>G c.(10432-10434)TTC>TTG p.F3478L AHNAK2_uc001ypx.2_Missense_Mutation_p.F3378L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3478 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGGCATCTTGAACTTGGGCA 0.627 NA 139 129 0 0 0.01441 0 0 C15orf2 23742 broad.mit.edu 37 15 24922567 24922567 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:24922567C>A uc001ywo.2 + 1 2027 c.1553C>A c.(1552-1554)TCT>TAT p.S518Y NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 518 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCCCAATATCTATGTGTGTG 0.547 NA 146 109 2.909e-70 4.2733e-70 0.01441 1 0 DLL4 54567 broad.mit.edu 37 15 41222082 41222082 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:41222082A>G uc001zng.1 + 2 424 c.104A>G c.(103-105)CAG>CGG p.Q35R NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 35 Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CTGCAGCTGCAGGAGTTCATC 0.687 NA 10 5 0 0 0.003163 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622919 65622919 + Silent SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:65622919T>C uc002aos.2 - 10 1974 c.1722A>G c.(1720-1722)GGA>GGG p.G574G IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 574 Extracellular (Potential).|Fibronectin type-III 2. ovary(3) 3 AGGAGACGGTTCCAGGCAGCA 0.672 NA 37 48 0 0 0.01441 0 0 TMED3 23423 broad.mit.edu 37 15 79606204 79606204 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:79606204G>T uc002beu.2 + 2 375 c.274G>T c.(274-276)GCT>TCT p.A92S TMED3_uc010unj.1_Missense_Mutation_p.A92S|TMED3_uc002bev.2_RNA NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 domain containing 3 92 Lumenal (Potential).|GOLD. protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane ovary(1)|skin(1) 2 CACGTACCGGGCTGAAGTCAA 0.507 NA 60 104 7.82978e-24 1.05605e-23 0.01441 1 0 EFTUD1 79631 broad.mit.edu 37 15 82456214 82456214 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:82456214G>T uc002bgt.1 - 16 2031 c.1862C>A c.(1861-1863)GCT>GAT p.A621D EFTUD1_uc002bgu.1_Missense_Mutation_p.A570D NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 621 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 TGGTTCAACAGCAACTCTCAC 0.363 NA 5 81 3.59834e-05 3.82008e-05 0.001168 1 0 ALPK3 57538 broad.mit.edu 37 15 85401093 85401093 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:85401093G>A uc002ble.2 + 6 3897 c.3730G>A c.(3730-3732)GGC>AGC p.G1244S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1244 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCGCCTCACCGGCCTCCTGGA 0.682 NA 9 25 0 0 0.003163 0 0 NTRK3 4916 broad.mit.edu 37 15 88678610 88678610 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:88678610C>A uc002bme.1 - 9 1088 c.926G>T c.(925-927)AGC>ATC p.S309I NTRK3_uc002bmh.2_Missense_Mutation_p.S309I|NTRK3_uc002bmf.1_Missense_Mutation_p.S309I|NTRK3_uc010upl.1_Missense_Mutation_p.S211I|NTRK3_uc010bnh.1_Missense_Mutation_p.S309I|NTRK3_uc002bmg.2_Missense_Mutation_p.S309I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 309 Ig-like C2-type 2.|Extracellular (Potential). 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) CTCCTCCAGGCTCACCACACG 0.592 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 21 46 1.96292e-10 2.27507e-10 0.010504 1 0 ACAN 176 broad.mit.edu 37 15 89386649 89386649 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:89386649G>A uc010upo.1 + 6 1195 c.821G>A c.(820-822)CGG>CAG p.R274Q ACAN_uc002bmx.2_Missense_Mutation_p.R274Q|ACAN_uc010upp.1_Missense_Mutation_p.R274Q|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 274 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AATGAGTGCCGGCGGCTGGGT 0.637 NA 3 18 0 0 0.000602 0 0 SV2B 9899 broad.mit.edu 37 15 91827441 91827441 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr15:91827441C>G uc002bqv.2 + 10 2089 c.1698C>G c.(1696-1698)CTC>CTG p.L566L SV2B_uc010uqv.1_Silent_p.L415L|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 566 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTGGAAGGCTCAAGATGATTG 0.473 NA 41 87 0 0 0.00623 0 0 ABCA3 21 broad.mit.edu 37 16 2347904 2347904 + Nonsense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:2347904G>A uc002cpy.1 - 16 2627 c.1915C>T c.(1915-1917)CAG>TAG p.Q639* ABCA3_uc010bsk.1_Nonsense_Mutation_p.Q581*|ABCA3_uc010bsl.1_Nonsense_Mutation_p.Q639* NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 639 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GGGCACTTCTGACGTGACAGG 0.632 NA 64 77 0 0 0.01441 0 0 A2BP1 54715 broad.mit.edu 37 16 7703845 7703845 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:7703845C>A uc002cys.2 + 12 1774 c.786C>A c.(784-786)ACC>ACA p.T262T A2BP1_uc010buf.1_Silent_p.T262T|A2BP1_uc002cyr.1_Silent_p.T261T|A2BP1_uc002cyt.2_Silent_p.T235T|A2BP1_uc010uxz.1_Silent_p.T305T|A2BP1_uc010uya.1_Silent_p.T219T|A2BP1_uc002cyv.1_Silent_p.T262T|A2BP1_uc010uyb.1_Silent_p.T262T|A2BP1_uc002cyw.2_Silent_p.T282T|A2BP1_uc002cyy.2_Silent_p.T282T|A2BP1_uc002cyx.2_Silent_p.T282T|A2BP1_uc010uyc.1_Silent_p.T255T NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 262 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CAGCAGCCACCGCCGCGGCCG 0.592 NA 7 17 2.32078e-09 2.64137e-09 0.003163 1 0 USP7 7874 broad.mit.edu 37 16 8993022 8993022 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:8993022C>A uc002czl.2 - 23 2686 c.2487G>T c.(2485-2487)AGG>AGT p.R829S USP7_uc010uyk.1_Missense_Mutation_p.R730S|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.R730S|USP7_uc002czk.2_Missense_Mutation_p.R813S NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 829 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CTGTGTTGAGCCTCTGTGCAA 0.413 NA 30 71 6.50621e-10 7.47229e-10 0.013726 1 0 PDILT 204474 broad.mit.edu 37 16 20380967 20380967 + Silent SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:20380967A>T uc002dhc.1 - 8 1186 c.963T>A c.(961-963)CGT>CGA p.R321R NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 321 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 ACTTGAAGACACGTCCATTTC 0.463 NA 51 119 0 0 0.01441 0 0 ACSM5 54988 broad.mit.edu 37 16 20430688 20430688 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:20430688C>A uc002dhe.2 + 4 701 c.554C>A c.(553-555)TCC>TAC p.S185Y ACSM5_uc002dhd.1_Missense_Mutation_p.S185Y NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 185 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GAATGCCCCTCCCTCCAGACC 0.582 NA 24 59 0.00047179 0.000491232 0.00333 1 0 ACSM3 6296 broad.mit.edu 37 16 20788795 20788795 + Silent SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:20788795A>G uc002dhr.2 + 4 718 c.531A>G c.(529-531)TTA>TTG p.L177L ACSM3_uc002dhq.2_Silent_p.L177L|ACSM3_uc010vba.1_Silent_p.L169L NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 177 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 ATGATGTTTTAGCCCCAGCAG 0.453 NA 41 90 0 0 0.00874 0 0 SEPT1 1731 broad.mit.edu 37 16 30391340 30391340 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:30391340C>T uc002dxy.2 - 8 760 c.573G>A c.(571-573)TTG>TTA p.L191L SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Silent_p.L16L|SEPT1_uc010veq.1_3'UTR NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 191 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) CCTCTTCCTTCAACTGATCCC 0.413 NA 43 74 0 0 0.011902 0 0 PDP2 57546 broad.mit.edu 37 16 66918316 66918316 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:66918316C>T uc002eqk.1 + 2 291 c.129C>T c.(127-129)TCC>TCT p.S43S NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 43 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGCTCTTTTCCCGGGTGCCAC 0.448 NA 26 184 0 0 0.005443 0 0 CTCF 10664 broad.mit.edu 37 16 67645894 67645894 + Silent SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:67645894G>C uc002etl.2 + 4 1112 c.822G>C c.(820-822)ACG>ACC p.T274T CTCF_uc010cek.2_Intron NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 274 C2H2-type 1. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GCAGTTACACGTGTCCACGGC 0.438 Colon(175;1200 1966 6945 23069 27405) NA 10 106 0 0 0.010729 0 0 EDC4 23644 broad.mit.edu 37 16 67911274 67911274 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:67911274C>T uc002eur.2 + 5 772 c.606C>T c.(604-606)TTC>TTT p.F202F EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Silent_p.F134F|EDC4_uc010ces.1_Silent_p.F45F|EDC4_uc002eus.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 202 WD 1. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCAACCTGTTCGTGTGGCGCT 0.587 NA 59 36 0 0 0.01441 0 0 SF3B3 23450 broad.mit.edu 37 16 70573038 70573039 + Missense_Mutation DNP CT CT AA TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:70573038_70573039CT>AA uc002ezf.2 + 8 1206_1207 c.995_996CT>AA c.(994-996)ACT>AAA p.T332K NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 332 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TATTTTGATACTGTACCCGTTG 0.421 NA 20 166 0 0 0.004672 0 0 CHST5 23563 broad.mit.edu 37 16 75563474 75563474 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:75563474C>A uc002fei.2 - 3 2204 c.809G>T c.(808-810)AGC>ATC p.S270I CHST5_uc002fej.1_Missense_Mutation_p.S276I NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 270 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCGCACGTGGCTGCGGCACAC 0.716 NA 13 58 4.93089e-13 5.91395e-13 0.00245 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77401460 77401460 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr16:77401460C>A uc002ffc.3 - 4 1075 c.656G>T c.(655-657)GGC>GTC p.G219V ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 219 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G216_G219del(1) large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CCGGCCAGAGCCGGGGTAGCC 0.547 NA 50 40 5.13769e-22 6.85628e-22 0.01441 1 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:7578403C>T uc002gim.2 - 5 721 c.527G>A c.(526-528)TGC>TAC p.C176Y TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 16 0 0 0.005443 0 0 MYH1 4619 broad.mit.edu 37 17 10419599 10419599 + Nonsense_Mutation SNP C C A rs149095511 TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:10419599C>A uc002gmo.2 - 4 359 c.265G>T c.(265-267)GAG>TAG p.E89* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 89 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCCATGTCCTCGATCTTGTCA 0.478 NA 83 78 1.02218e-41 1.45642e-41 0.01441 1 0 MYH1 4619 broad.mit.edu 37 17 10419608 10419608 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:10419608C>A uc002gmo.2 - 4 350 c.256G>T c.(256-258)GAC>TAC p.D86Y uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 86 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCGATCTTGTCATATTTGGGA 0.473 NA 84 79 9.07295e-45 1.31246e-44 0.01441 1 0 DNAH9 1770 broad.mit.edu 37 17 11725838 11725838 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:11725838C>A uc002gne.2 + 47 9002 c.8934C>A c.(8932-8934)ATC>ATA p.I2978I DNAH9_uc010coo.2_Silent_p.I2272I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2978 AAA 4 (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) GCACAGCCATCCACTGGTTCC 0.537 NA 84 47 4.82855e-46 7.01158e-46 0.01441 1 0 ZNF624 57547 broad.mit.edu 37 17 16527059 16527059 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:16527059T>C uc010cpi.1 - 6 1224 c.1141A>G c.(1141-1143)ATT>GTT p.I381V NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 381 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCAGTTTGAATTCTCTGGTGC 0.388 NSCLC(186;1023 2134 13330 38202 39800) NA 79 45 0 0 0.01441 0 0 MYO15A 51168 broad.mit.edu 37 17 18023155 18023155 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:18023155G>A uc010vxh.1 + 2 1379 c.1041G>A c.(1039-1041)GCG>GCA p.A347A NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 347 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) ATCCCTATGCGCCGTACGACG 0.597 NA 10 74 0 0 0.006214 0 0 EPN2 22905 broad.mit.edu 37 17 19232056 19232056 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:19232056G>T uc002gvd.3 + 8 1628 c.1180G>T c.(1180-1182)GGG>TGG p.G394W EPN2_uc010cql.1_Missense_Mutation_p.G103W|EPN2_uc002gve.3_Missense_Mutation_p.G337W|EPN2_uc002gvf.3_Missense_Mutation_p.G109W|EPN2_uc010vyo.1_Missense_Mutation_p.G102W|EPN2_uc010vyp.1_Missense_Mutation_p.G330W|EPN2_uc010vyq.1_Missense_Mutation_p.G331W|EPN2_uc002gvh.1_Missense_Mutation_p.G394W|EPN2_uc002gvj.3_Missense_Mutation_p.G57W NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 394 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TGACCCATGGGGGGTGCCCAC 0.607 NA 18 57 9.86323e-18 1.26289e-17 0.003954 1 0 MSL1 339287 broad.mit.edu 37 17 38287837 38287837 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:38287837G>A uc002hub.2 + 4 839 c.820G>A c.(820-822)GTT>ATT p.V274I MSL1_uc002hua.3_Missense_Mutation_p.V212I|MSL1_uc002hud.2_Missense_Mutation_p.V14I NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin 475 histone H4-K16 acetylation MSL complex 0 AGTCTTGGCTGGTGAGTAGAA 0.493 NA 65 161 0 0 0.01441 0 0 MPP2 4355 broad.mit.edu 37 17 41958159 41958159 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:41958159C>A uc010wip.1 - 10 1242 c.1185G>T c.(1183-1185)CGG>CGT p.R395R MPP2_uc002ien.1_Silent_p.R367R|MPP2_uc010wim.1_Silent_p.R339R|MPP2_uc002ieo.1_Silent_p.R350R|MPP2_uc010win.1_Silent_p.R211R|MPP2_uc010wio.1_Silent_p.R339R NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 374 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCAGGGTTTTCCGGCGGAACG 0.612 NA OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 56 3.05275e-18 3.9623e-18 0.013114 1 0 KIF2B 84643 broad.mit.edu 37 17 51901812 51901812 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:51901812A>G uc002iua.2 + 1 1574 c.1418A>G c.(1417-1419)AAG>AGG p.K473R uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 473 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GAGATTAACAAGAGTCTTCTA 0.512 NA 19 54 0 0 0.008871 0 0 PRKCA 5578 broad.mit.edu 37 17 64299089 64299089 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:64299089C>A uc002jfp.1 + 1 164 c.120C>A c.(118-120)ATC>ATA p.I40I PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 40 Phorbol-ester/DAG-type 1. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ACAAATTCATCGCGCGCTTCT 0.657 NA 38 53 7.04047e-22 9.32986e-22 0.005524 1 0 BPTF 2186 broad.mit.edu 37 17 65850144 65850144 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr17:65850144G>T uc002jgf.2 + 2 763 c.702G>T c.(700-702)GAG>GAT p.E234D BPTF_uc002jge.2_Missense_Mutation_p.E234D|BPTF_uc010wqm.1_Missense_Mutation_p.E234D NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 234 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGTCCTCTGAGGATTTAATGG 0.428 NA 79 140 1.45978e-39 2.07212e-39 0.01441 1 0 LAMA3 3909 broad.mit.edu 37 18 21474925 21474925 + Missense_Mutation SNP A A C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr18:21474925A>C uc002kuq.2 + 44 5602 c.5516A>C c.(5515-5517)CAG>CCG p.Q1839P LAMA3_uc002kur.2_Missense_Mutation_p.Q1839P|LAMA3_uc002kus.3_Missense_Mutation_p.Q230P|LAMA3_uc002kut.3_Missense_Mutation_p.Q230P NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1839 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGGGCGAGCAGCTCCGCCTG 0.617 NA 7 11 0 0 0.007413 0 0 ASXL3 80816 broad.mit.edu 37 18 31325019 31325019 + Nonsense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr18:31325019C>A uc010dmg.1 + 12 5262 c.5207C>A c.(5206-5208)TCA>TAA p.S1736* ASXL3_uc002kxq.2_Nonsense_Mutation_p.S1443* NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAGGGAGCTCAGGCTGTCGT 0.532 NA 22 18 1.85244e-09 2.11468e-09 0.00333 1 0 SETBP1 26040 broad.mit.edu 37 18 42532073 42532073 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr18:42532073T>A uc010dni.2 + 4 3064 c.2768T>A c.(2767-2769)ATT>AAT p.I923N NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 923 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGCATCTCATTGTGGACAAC 0.537 NA Schinzel-Giedion_syndrome 19 20 0 0 0.012319 0 0 STK11 6794 broad.mit.edu 37 19 1207078 1207078 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:1207078G>T uc002lrl.1 + 1 1281 c.166G>T c.(166-168)GGG>TGG p.G56W NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 56 ATP (By similarity).|Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G56V(1)|p.G56W(1)|p.G56fs*107(1)|p.G56fs*4(1)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGACCTGCTGGGGGAAGGCTC 0.612 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 17 14 2.35188e-11 2.74266e-11 0.006122 1 0 HNRNPM 4670 broad.mit.edu 37 19 8550658 8550658 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:8550658G>T uc010dwe.2 + 14 1426 c.1346G>T c.(1345-1347)CGC>CTC p.R449L HNRNPM_uc010xke.1_Missense_Mutation_p.R395L|HNRNPM_uc010dwd.2_Missense_Mutation_p.R410L|HNRNPM_uc002mka.2_Missense_Mutation_p.R314L|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 449 7.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 TCCGTGGAGCGCATGGGCTCC 0.692 NA 69 62 2.72187e-29 3.76492e-29 0.01441 1 0 MUC16 94025 broad.mit.edu 37 19 9086155 9086155 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:9086155G>C uc002mkp.2 - 1 5864 c.5660C>G c.(5659-5661)TCT>TGT p.S1887C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1887 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTTCCCATAGACAGGGACTT 0.502 NA 22 24 0 0 0.012319 0 0 OR7E24 26648 broad.mit.edu 37 19 9361887 9361887 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:9361887G>A uc002mlb.1 + 1 168 c.168G>A c.(166-168)ACG>ACA p.T56T NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 56 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACCTGGTCACGGTGCTGGGGA 0.577 NA 32 20 0 0 0.003755 0 0 KEAP1 9817 broad.mit.edu 37 19 10600419 10600419 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:10600419T>C uc002moq.1 - 4 1592 c.1436A>G c.(1435-1437)GAC>GGC p.D479G KEAP1_uc002mop.1_Missense_Mutation_p.D197G|KEAP1_uc002mor.1_Missense_Mutation_p.D479G NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 479 Kelch 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTTTGTCCCGTCAAAGCCCCC 0.582 NA 28 30 0 0 0.004289 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710915 14710915 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:14710915C>T uc010dzn.1 + 12 892 c.815C>T c.(814-816)ACC>ATC p.T272I CLEC17A_uc002mzh.1_Missense_Mutation_p.T255I|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Missense_Mutation_p.T272I Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 272 C-type lectin.|Extracellular (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 TCCCCAAGCACCAAGTCATGG 0.527 NA 28 18 0 0 0.012213 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083694 15083694 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:15083694A>G uc002naa.1 - 1 37 c.29T>C c.(28-30)CTT>CCT p.L10P SLC1A6_uc010dzu.1_Missense_Mutation_p.L10P|SLC1A6_uc010xod.1_Silent_p.P14P|SLC1A6_uc002nab.2_Missense_Mutation_p.L10P|SLC1A6_uc002nac.2_Missense_Mutation_p.L10P|SLC1A6_uc002nad.1_Missense_Mutation_p.L10P NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 10 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GCTCTCCCGCAGGAACAGGCT 0.687 NA 2 2 0 0 0.009096 0 0 PLVAP 83483 broad.mit.edu 37 19 17476412 17476412 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:17476412G>T uc002ngk.1 - 3 912 c.862C>A c.(862-864)CGG>AGG p.R288R NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 288 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CGGAGGCTCCGGGCCAGCTCC 0.657 NA 16 16 2.70639e-06 2.91399e-06 0.014323 1 0 ZNF85 7639 broad.mit.edu 37 19 21132566 21132566 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:21132566C>A uc002npg.3 + 4 1373 c.1246C>A c.(1246-1248)CAT>AAT p.H416N ZNF85_uc010ecn.2_Missense_Mutation_p.H351N|ZNF85_uc010eco.2_Missense_Mutation_p.H364N|ZNF85_uc002npi.2_Missense_Mutation_p.H357N NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 416 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 CCTTACTAAACATAAGATAAT 0.313 NA 6 21 1.76689e-08 1.96379e-08 0.006214 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768902 31768902 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:31768902C>T uc002nsy.3 - 2 1862 c.1797G>A c.(1795-1797)ACG>ACA p.T599T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 599 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GCATGGGGGACGTCTGGCTGC 0.552 NA 69 56 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 19 34583634 34583634 + Silent SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:34583634G>C uc002nuz.2 - 1 580 c.528C>G c.(526-528)ACC>ACG p.T176T full-length cDNA clone CS0DE007YF24 of Placenta of Homo sapiens (human). NA TCTCTCTATTGGTGATCACAC 0.448 NA 3 4 0 0 0.004672 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581599 40581599 + Missense_Mutation SNP T T A rs140183562 byFrequency TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:40581599T>A uc002omy.2 - 6 975 c.750A>T c.(748-750)GAA>GAT p.E250D ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E250D|ZNF780A_uc010xvh.1_Missense_Mutation_p.E251D NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 250 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATTCCTTACATTCAAACAGTT 0.393 NA 98 73 0 0 0.01441 0 0 POU2F2 5452 broad.mit.edu 37 19 42600252 42600252 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:42600252G>C uc002osp.2 - 8 712 c.645C>G c.(643-645)ATC>ATG p.I215M POU2F2_uc002osn.2_Missense_Mutation_p.I199M|POU2F2_uc002oso.2_Translation_Start_Site|POU2F2_uc002osq.2_Missense_Mutation_p.I199M|POU2F2_uc002osr.1_Missense_Mutation_p.I215M NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 215 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) AGCCCAGCTTGATGCGGCGTT 0.672 NA 7 12 0 0 0.008291 0 0 ZNF224 7767 broad.mit.edu 37 19 44605073 44605073 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:44605073C>T uc002oyh.1 + 4 437 c.135C>T c.(133-135)CTC>CTT p.L45L NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 45 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GGAACCTGCTCTCAGTGGGTG 0.517 NA 35 117 0 0 0.003271 0 0 EML2 24139 broad.mit.edu 37 19 46124826 46124826 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:46124826C>A uc002pcn.2 - 10 946 c.911G>T c.(910-912)CGG>CTG p.R304L EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.R188L|EML2_uc010xxl.1_Missense_Mutation_p.R451L|EML2_uc010xxm.1_Missense_Mutation_p.R505L|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.R304L|EML2_uc010ekj.2_Missense_Mutation_p.G271W NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 304 WD 5. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CGTCCCGTCCCGCAGGGCGCA 0.687 NA 9 35 5.50884e-06 5.91459e-06 0.013537 1 0 CEACAM18 729767 broad.mit.edu 37 19 51986489 51986489 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:51986489G>T uc002pwv.1 + 5 1075 c.1075G>T c.(1075-1077)GTG>TTG p.V359L NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 359 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCGATGCACTGTGGAGAACCC 0.562 NA 43 36 1.61004e-24 2.18711e-24 0.01441 1 0 NBAS 51594 broad.mit.edu 37 2 15519895 15519895 + Missense_Mutation SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:15519895T>C uc002rcc.1 - 30 3447 c.3421A>G c.(3421-3423)ATG>GTG p.M1141V NBAS_uc010exl.1_Missense_Mutation_p.M213V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1141 ovary(2)|liver(1)|skin(1) 4 CAGTGCATCATCTGTCCAGCC 0.448 NA 119 118 0 0 0.01441 0 0 APOB 338 broad.mit.edu 37 2 21235078 21235078 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:21235078G>T uc002red.2 - 26 4790 c.4662C>A c.(4660-4662)ATC>ATA p.I1554I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1554 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATTTTTAATGATGCCACTTT 0.433 NA 14 93 9.16793e-09 1.028e-08 0.00499 1 0 CRIM1 51232 broad.mit.edu 37 2 36706813 36706813 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:36706813G>T uc002rpd.2 + 7 1387 c.1348G>T c.(1348-1350)GGG>TGG p.G450W NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 450 VWFC 2.|Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GAAAGTGCCTGGGGAGTGTTG 0.547 NA 21 88 6.44725e-10 7.44972e-10 0.014323 1 0 GALM 130589 broad.mit.edu 37 2 38958889 38958889 + Silent SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:38958889T>A uc002rqy.2 + 6 1041 c.789T>A c.(787-789)GCT>GCA p.A263A NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 263 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) TGCATCATGCTGCAAGCGGGC 0.532 NA 19 83 0 0 0.007413 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043249 71043249 + Nonsense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:71043249G>A uc002shf.2 - 4 1341 c.1264C>T c.(1264-1266)CAG>TAG p.Q422* CLEC4F_uc010yqv.1_Nonsense_Mutation_p.Q422* NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 422 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 CTTAACCTCTGGATCTCGGCA 0.483 Colon(107;10 2157 6841 26035) NA 39 40 0 0 0.004878 0 0 LOXL3 84695 broad.mit.edu 37 2 74763216 74763216 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:74763216C>T uc002smp.1 - 7 1227 c.1155G>A c.(1153-1155)AAG>AAA p.K385K LOXL3_uc002smo.1_Silent_p.K24K|LOXL3_uc010ffm.1_Silent_p.K385K|LOXL3_uc002smq.1_Silent_p.K240K|LOXL3_uc010ffn.1_Silent_p.K240K NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 385 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 TGTGGGGGCACTTCCAGAGGG 0.552 NA 69 61 0 0 0.01441 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317603 103317603 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:103317603C>G uc002tca.2 + 8 1803 c.1661C>G c.(1660-1662)TCT>TGT p.S554C NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 554 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 AGTATTGTATCTTTATATAAA 0.328 NA 21 54 0 0 0.012319 0 0 EDAR 10913 broad.mit.edu 37 2 109547432 109547432 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:109547432G>T uc002teq.3 - 2 470 c.39C>A c.(37-39)CTC>CTA p.L13L EDAR_uc010fjn.2_Silent_p.L13L|EDAR_uc010yws.1_Silent_p.L13L NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 13 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CCAGGACGGGGAGCCAGGGCG 0.522 NA 19 153 1.55795e-14 1.90471e-14 0.012319 1 0 PCDP1 200373 broad.mit.edu 37 2 120387532 120387532 + Splice_Site SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:120387532G>A uc002tmb.2 + 18 1965 c.873_splice c.e18+1 p.Q291_splice PCDP1_uc010yyq.1_Splice_Site_p.Q421_splice NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 cilium calmodulin binding 0 Colorectal(110;0.196) CAATCTGCAGGTCAGACCTGT 0.338 NA 24 84 0 0 0.00333 0 0 LCT 3938 broad.mit.edu 37 2 136594656 136594656 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:136594656G>A uc002tuu.1 - 1 95 c.84C>T c.(82-84)TTC>TTT p.F28F NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 28 Extracellular (Potential). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CGGTGGAAATGAAATTTCTAT 0.468 NA 8 40 0 0 0.004482 0 0 LRP1B 53353 broad.mit.edu 37 2 141110564 141110564 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:141110564C>T uc002tvj.1 - 76 12580 c.11608G>A c.(11608-11610)GAC>AAC p.D3870N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3870 Extracellular (Potential).|EGF-like 9. 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) AAATTCTGGTCACACACACAT 0.323 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 26 157 0 0 0.007291 0 0 LRP1B 53353 broad.mit.edu 37 2 141128318 141128318 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:141128318C>A uc002tvj.1 - 71 11941 c.10969G>T c.(10969-10971)GAC>TAC p.D3657Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3657 Extracellular (Potential).|LDL-receptor class A 29. 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) TCCACACAGTCATGAATTCCA 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 60 314 1.31171e-36 1.85499e-36 0.01441 1 0 TANC1 85461 broad.mit.edu 37 2 160031569 160031569 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:160031569G>T uc002uag.2 + 12 1883 c.1609G>T c.(1609-1611)GCC>TCC p.A537S TANC1_uc010fol.1_Missense_Mutation_p.A431S|TANC1_uc010zcm.1_Missense_Mutation_p.A529S|TANC1_uc010fom.1_Missense_Mutation_p.A343S|TANC1_uc002uai.1_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 537 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TCAGCTGGCCGCCTACAGAGA 0.592 NA 153 120 2.33112e-60 3.41117e-60 0.01441 1 0 CSRNP3 80034 broad.mit.edu 37 2 166451720 166451720 + Missense_Mutation SNP A A C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:166451720A>C uc002udf.2 + 4 521 c.145A>C c.(145-147)ACC>CCC p.T49P CSRNP3_uc002udg.2_Missense_Mutation_p.T49P NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 49 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TAGTCATTTTACCCGTGAGTA 0.408 NA 68 70 0 0 0.01441 0 0 SCN9A 6335 broad.mit.edu 37 2 167141098 167141098 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:167141098C>T uc010fpl.2 - 12 2180 c.1839G>A c.(1837-1839)CCG>CCA p.P613P uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.P484P|SCN9A_uc002uds.1_Silent_p.P484P|SCN9A_uc002udt.1_Silent_p.P484P NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 613 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCCCGTTCACCGGCAGCATTG 0.587 NA 30 40 0 0 0.011902 0 0 XIRP2 129446 broad.mit.edu 37 2 168105626 168105626 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:168105626G>A uc002udx.2 + 8 7742 c.7724G>A c.(7723-7725)AGC>AAC p.S2575N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2400N|XIRP2_uc010fpq.2_Missense_Mutation_p.S2353N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2400 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAACTCAAAGCCAAAATCAA 0.338 NA 28 147 0 0 0.007291 0 0 LASS6 253782 broad.mit.edu 37 2 169547564 169547564 + Silent SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:169547564G>C uc002ueb.1 + 5 610 c.486G>C c.(484-486)ACG>ACC p.T162T LASS6_uc002uec.1_Silent_p.T162T NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 162 Cytoplasmic (Potential).|TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 TGTGGAATACGAGGCATTGCT 0.373 NA 25 179 0 0 0.005443 0 0 LRP2 4036 broad.mit.edu 37 2 170151164 170151164 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:170151164G>C uc002ues.2 - 5 697 c.484C>G c.(484-486)CAG>GAG p.Q162E LRP2_uc010zdf.1_Missense_Mutation_p.Q162E NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 162 LDL-receptor class A 4.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACACTTCTGACTGGTGTTA 0.318 NA 25 84 0 0 0.008361 0 0 C2orf77 129881 broad.mit.edu 37 2 170505760 170505760 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:170505760C>T uc002ufe.2 - 8 1343 c.1249G>A c.(1249-1251)GAA>AAA p.E417K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 417 0 TTCTCCTTTTCATGTTCCCAG 0.333 NA 7 41 0 0 0.00308 0 0 COL5A2 1290 broad.mit.edu 37 2 189925458 189925458 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:189925458G>C uc002uqk.2 - 31 2358 c.2083C>G c.(2083-2085)CAA>GAA p.Q695E COL5A2_uc010frx.2_Missense_Mutation_p.Q271E NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 695 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) ACACTTACTTGATCACCTGGT 0.289 NA 13 36 0 0 0.00245 0 0 MYO1B 4430 broad.mit.edu 37 2 192275861 192275861 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:192275861G>C uc010fsg.2 + 27 3091 c.2836G>C c.(2836-2838)GAA>CAA p.E946Q MYO1B_uc002usq.2_Missense_Mutation_p.E888Q|MYO1B_uc002usr.2_Missense_Mutation_p.E946Q|MYO1B_uc002usu.2_Missense_Mutation_p.E191Q|MYO1B_uc002usv.2_Missense_Mutation_p.E62Q NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 946 myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AGAAGCCAGTGAACTCTTCAA 0.333 NA 12 68 0 0 0.001855 0 0 CCDC108 255101 broad.mit.edu 37 2 219892544 219892544 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:219892544G>T uc002vjl.1 - 13 2123 c.2039C>A c.(2038-2040)ACC>AAC p.T680N CCDC108_uc010fwa.1_Missense_Mutation_p.T123N|CCDC108_uc010zkp.1_Missense_Mutation_p.T669N|CCDC108_uc010zkq.1_Missense_Mutation_p.T615N NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 680 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGCCCTTGGTGTGGTTCAT 0.627 NA 19 59 2.35188e-11 2.74266e-11 0.006122 1 0 TRIP12 9320 broad.mit.edu 37 2 230675910 230675910 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:230675910G>A uc002vpw.1 - 13 1962 c.1853C>T c.(1852-1854)TCA>TTA p.S618L TRIP12_uc002vpx.1_Missense_Mutation_p.S666L|TRIP12_uc002vpy.1_Missense_Mutation_p.S321L|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S624L NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 618 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GCTTTCTACTGACTTTTTATC 0.343 NA 17 54 0 0 0.008871 0 0 NEU4 129807 broad.mit.edu 37 2 242756197 242756197 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:242756197G>A uc010fzr.2 + 3 396 c.310G>A c.(310-312)GCG>ACG p.A104T NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.A104T|NEU4_uc002wcn.1_Missense_Mutation_p.A116T|NEU4_uc002wco.1_Missense_Mutation_p.A104T|NEU4_uc002wcp.1_Missense_Mutation_p.A116T NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 104 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTTCTTCATCGCGGTGCTGGG 0.701 NA 16 16 0 0 0.006122 0 0 ISM1 140862 broad.mit.edu 37 20 13280019 13280019 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:13280019C>A uc010gce.1 + 6 1314 c.1308C>A c.(1306-1308)GCC>GCA p.A436A TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 436 AMOP. extracellular region 0 ATAACGAGGCCCGGCCTCCCA 0.567 NA 32 17 6.50621e-10 7.47229e-10 0.013726 1 0 NCOA6 23054 broad.mit.edu 37 20 33330706 33330706 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:33330706C>T uc002xav.2 - 12 5925 c.3354G>A c.(3352-3354)CCG>CCA p.P1118P NCOA6_uc002xaw.2_Silent_p.P1118P NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1118 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 AAGGATTCTGCGGGCTCTCCT 0.537 NA 51 85 0 0 0.01441 0 0 UQCC 55245 broad.mit.edu 37 20 33891776 33891776 + Missense_Mutation SNP T T G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:33891776T>G uc002xcd.2 - 10 929 c.862A>C c.(862-864)AAG>CAG p.K288Q UQCC_uc010zuy.1_Missense_Mutation_p.K189Q|UQCC_uc010zuz.1_Missense_Mutation_p.K133Q|UQCC_uc010zva.1_Missense_Mutation_p.K151Q|UQCC_uc002xce.2_Missense_Mutation_p.K261Q|UQCC_uc002xcg.2_Missense_Mutation_p.K154Q|UQCC_uc010gfb.2_Missense_Mutation_p.K262Q|UQCC_uc010zvb.1_Missense_Mutation_p.K220Q|UQCC_uc002xcf.2_Missense_Mutation_p.K176Q|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Missense_Mutation_p.K101Q NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 288 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAATGGGGCTTCAGGATGCTC 0.602 NA OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 121 0 0 0.01441 0 0 PLCG1 5335 broad.mit.edu 37 20 39794177 39794177 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:39794177G>A uc002xjp.1 + 15 1718 c.1597G>A c.(1597-1599)GAG>AAG p.E533K PLCG1_uc002xjo.1_Missense_Mutation_p.E533K|PLCG1_uc010zwe.1_Missense_Mutation_p.E159K|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 533 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) CGAGGATGAGGAGGAGCCCAA 0.577 NA 14 36 0 0 0.003163 0 0 ZNF335 63925 broad.mit.edu 37 20 44578472 44578472 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:44578472C>T uc002xqw.2 - 24 3759 c.3636G>A c.(3634-3636)CAG>CAA p.Q1212Q ZNF335_uc002xqv.2_Silent_p.Q324Q|ZNF335_uc010zxk.1_Silent_p.Q1057Q NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1212 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GCTGTACGGTCTGGCCATCTG 0.577 NA 25 44 0 0 0.008361 0 0 NCOA3 8202 broad.mit.edu 37 20 46254147 46254147 + Silent SNP T T C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:46254147T>C uc002xtk.2 + 5 484 c.279T>C c.(277-279)GAT>GAC p.D93D NCOA3_uc010ght.1_Silent_p.D93D|NCOA3_uc002xtl.2_Silent_p.D93D|NCOA3_uc002xtm.2_Silent_p.D93D|NCOA3_uc002xtn.2_Silent_p.D93D|NCOA3_uc010zyc.1_5'Flank NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 93 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CCAATGATGATGATGTTCAAA 0.368 NA 24 75 0 0 0.00632 0 0 ZNF831 128611 broad.mit.edu 37 20 57769595 57769595 + Missense_Mutation SNP T T G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:57769595T>G uc002yan.2 + 1 3521 c.3521T>G c.(3520-3522)TTT>TGT p.F1174C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1174 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CAAAACCCCTTTCCCTCACTG 0.657 NA 24 65 0 0 0.005443 0 0 COL20A1 57642 broad.mit.edu 37 20 61929352 61929352 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:61929352T>A uc011aau.1 + 3 273 c.173T>A c.(172-174)GTG>GAG p.V58E NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 58 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GGCTACCTGGTGCAGGTGAAG 0.652 NA 7 21 0 0 0.006214 0 0 C20orf195 79025 broad.mit.edu 37 20 62187844 62187844 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr20:62187844C>A uc002yfj.2 + 2 920 c.828C>A c.(826-828)AAC>AAA p.N276K C20orf195_uc002yfk.2_Missense_Mutation_p.N276K NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 276 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TGCTGCCCAACCGATCCTATA 0.652 NA 39 121 1.6237e-14 1.97872e-14 0.013114 1 0 SON 6651 broad.mit.edu 37 21 34918600 34918600 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr21:34918600C>T uc002yse.1 + 2 208 c.159C>T c.(157-159)GCC>GCT p.A53A SON_uc002ysb.1_Silent_p.A53A|SON_uc002ysc.2_Silent_p.A53A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Silent_p.A53A NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 53 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CTGCCTCTGCCAGGAGTCTAC 0.438 NA 54 35 0 0 0.01441 0 0 DSCAM 1826 broad.mit.edu 37 21 42080523 42080523 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr21:42080523C>A uc002yyq.1 - 2 670 c.218G>T c.(217-219)CGC>CTC p.R73L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 73 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGGACGTGGCGGATCCCGGG 0.547 Melanoma(134;970 1778 1785 21664 32388) NA 82 37 1.92282e-43 2.76041e-43 0.01441 1 0 COL6A2 1292 broad.mit.edu 37 21 47545874 47545874 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr21:47545874C>G uc002zia.1 + 26 2227 c.2145C>G c.(2143-2145)ATC>ATG p.I715M COL6A2_uc002zhy.1_Missense_Mutation_p.I715M|COL6A2_uc002zhz.1_Missense_Mutation_p.I715M|COL6A2_uc002zib.1_Missense_Mutation_p.I121M|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 715 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCGCCTCATCAAGGAGAGCC 0.632 NA 19 15 0 0 0.012319 0 0 CRYBB1 1414 broad.mit.edu 37 22 26995496 26995496 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr22:26995496G>A uc003acy.1 - 6 787 c.717C>T c.(715-717)CTC>CTT p.L239L NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 239 C-terminal arm. visual perception structural constituent of eye lens ovary(1) 1 AGGACCCCTCGAGGTGCCACT 0.597 NA 40 37 0 0 0.010771 0 0 DEPDC5 9681 broad.mit.edu 37 22 32302347 32302347 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr22:32302347G>T uc003als.2 + 42 4725 c.4583G>T c.(4582-4584)CGC>CTC p.R1528L DEPDC5_uc011als.1_Missense_Mutation_p.R1459L|DEPDC5_uc011alu.1_Missense_Mutation_p.R1559L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1550L|DEPDC5_uc003alu.2_Missense_Mutation_p.R977L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R826L|DEPDC5_uc011alx.1_Missense_Mutation_p.R376L|DEPDC5_uc010gwk.2_Silent_p.A563A|DEPDC5_uc011aly.1_Missense_Mutation_p.R376L NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1528 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AAAACATGGCGCTCCAGCGCC 0.582 NA 81 56 3.46703e-50 5.05386e-50 0.01441 1 0 SYN3 8224 broad.mit.edu 37 22 33265054 33265054 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr22:33265054C>A uc003amx.2 - 4 679 c.520G>T c.(520-522)GGG>TGG p.G174W SYN3_uc003amy.2_Missense_Mutation_p.G174W|SYN3_uc003amz.2_Missense_Mutation_p.G173W NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 174 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 TAGTCTTCCCCCAGGGCCATG 0.567 NA 15 17 1.37657e-19 1.79285e-19 0.012319 1 0 PIM3 415116 broad.mit.edu 37 22 50356707 50356707 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr22:50356707G>A uc003bjb.2 + 6 1366 c.913G>A c.(913-915)GAC>AAC p.D305N PIM3_uc011arj.1_Missense_Mutation_p.D68N NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN serine/threonine protein kinase pim-3 305 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GGAGAGCTGTGACCTGCGGCT 0.682 NA 8 9 0 0 0.004482 0 0 GRM7 2917 broad.mit.edu 37 3 7620469 7620469 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:7620469C>G uc003bqm.2 + 8 2150 c.1876C>G c.(1876-1878)CGG>GGG p.R626G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R626G|GRM7_uc003bql.2_Missense_Mutation_p.R626G|GRM7_uc003bqn.1_Missense_Mutation_p.R209G|GRM7_uc010hch.1_Missense_Mutation_p.R137G NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 626 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GGCATCTGGGCGGGAACTCAG 0.502 NA 89 65 0 0 0.01441 0 0 OSBPL10 114884 broad.mit.edu 37 3 31871646 31871646 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:31871646C>A uc003cev.2 - 5 996 c.615G>T c.(613-615)CAG>CAT p.Q205H OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 205 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) TGAGGTGTCTCTGGCTACAGG 0.567 NA 33 20 1.51943e-15 1.88807e-15 0.01441 1 0 MAP4 4134 broad.mit.edu 37 3 47957470 47957470 + Nonsense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:47957470G>C uc003csb.2 - 7 2373 c.1847C>G c.(1846-1848)TCA>TGA p.S616* MAP4_uc003csc.3_Nonsense_Mutation_p.S616*|MAP4_uc011bbf.1_Nonsense_Mutation_p.S593*|MAP4_uc003csf.3_Nonsense_Mutation_p.S633* NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 616 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AGGTGCAGCTGACTGCCCCAC 0.428 NA 120 54 0 0 0.01441 0 0 CELSR3 1951 broad.mit.edu 37 3 48697690 48697690 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:48697690A>G uc003cul.2 - 1 2659 c.2378T>C c.(2377-2379)ATC>ACC p.I793T CELSR3_uc003cuf.1_Missense_Mutation_p.I863T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 793 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCGCCTGTGATCTGGTAGCT 0.592 NA 10 59 0 0 0.010729 0 0 OR5H15 403274 broad.mit.edu 37 3 97887574 97887574 + Nonsense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:97887574G>T uc011bgu.1 + 1 31 c.31G>T c.(31-33)GAG>TAG p.E11* NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATTGCTGACAGAGTTTGTTCT 0.383 NA 137 74 6.2965e-74 9.2855e-74 0.01441 1 0 CD47 961 broad.mit.edu 37 3 107799048 107799048 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:107799048C>G uc003dwt.1 - 2 370 c.190G>C c.(190-192)GAT>CAT p.D64H CD47_uc003dwu.1_Missense_Mutation_p.D64H|CD47_uc003dwv.1_Missense_Mutation_p.D64H|CD47_uc003dww.1_Missense_Mutation_p.D64H NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 64 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) GTGTAAATATCTCTTCCTTTA 0.378 NA 89 41 0 0 0.01441 0 0 COL6A6 131873 broad.mit.edu 37 3 130290238 130290238 + Splice_Site SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:130290238G>T uc010htl.2 + 6 3008 c.2977_splice c.e6+1 p.D993_splice NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCAAAAGTAGGTAAGTTTTGC 0.423 NA 21 12 1.04121e-07 1.14052e-07 0.005443 1 0 MME 4311 broad.mit.edu 37 3 154861315 154861315 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:154861315G>A uc010hvr.1 + 13 1483 c.1272G>A c.(1270-1272)GGG>GGA p.G424G MME_uc003fab.1_Silent_p.G424G|MME_uc003fac.1_Silent_p.G424G|MME_uc003fad.1_Silent_p.G424G|MME_uc003fae.1_Silent_p.G424G NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 424 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) ATGCTGTGGGGAGGCTTTATG 0.408 NA 41 153 0 0 0.011902 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906989 164906989 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:164906989C>A uc003fej.3 - 2 2074 c.1630G>T c.(1630-1632)GTG>TTG p.V544L SLITRK3_uc003fek.2_Missense_Mutation_p.V544L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 544 Extracellular (Potential).|LRR 12. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACACCAGCCACGGGAAGATAG 0.512 NA HNSCC(40;0.11) 45 24 9.52127e-25 1.30273e-24 0.01441 1 0 CLDN1 9076 broad.mit.edu 37 3 190027981 190027981 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:190027981G>A uc003fsh.2 - 3 670 c.450C>T c.(448-450)GAC>GAT p.D150D NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 150 Extracellular (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) GGGTCATAGGGTCATAGAATT 0.388 NA 33 20 0 0 0.004878 0 0 TNK2 10188 broad.mit.edu 37 3 195610174 195610174 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr3:195610174C>A uc003fvu.1 - 5 1006 c.463G>T c.(463-465)GTG>TTG p.V155L TNK2_uc003fvs.1_Missense_Mutation_p.V187L|TNK2_uc003fvt.1_Missense_Mutation_p.V218L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Missense_Mutation_p.V169L NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 155 Protein kinase. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TTCACAGCCACACTCACCTGC 0.607 NA 43 12 9.14704e-12 1.07998e-11 0.00874 1 0 IDUA 3425 broad.mit.edu 37 4 997367 997367 + Nonsense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:997367C>T uc003gby.2 + 12 1769 c.1681C>T c.(1681-1683)CAA>TAA p.Q561* IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Nonsense_Mutation_p.Q583* NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 561 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GCCCCTGACCCAAGGGCAGCT 0.711 NA 10 29 0 0 0.013537 0 0 SH3TC1 54436 broad.mit.edu 37 4 8220037 8220037 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:8220037C>T uc003gkv.3 + 8 980 c.879C>T c.(877-879)GCC>GCT p.A293A SH3TC1_uc003gkw.3_Silent_p.A217A|SH3TC1_uc003gkx.3_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 293 binding large_intestine(2)|pancreas(1) 3 TCGACGATGCCATGGGTGGCC 0.577 NSCLC(145;2298 2623 35616 37297) NA 7 41 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20568941 20568941 + Nonsense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:20568941A>T uc003gpr.1 + 27 2986 c.2782A>T c.(2782-2784)AAA>TAA p.K928* SLIT2_uc003gps.1_Nonsense_Mutation_p.K920* NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 928 EGF-like 1. 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 AAATCCGTGTAAAAATGATGG 0.383 NA 101 195 0 0 0.01441 0 0 GABRA4 2557 broad.mit.edu 37 4 46981053 46981053 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:46981053C>T uc003gxg.2 - 3 407 c.268G>A c.(268-270)GAA>AAA p.E90K NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 90 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCTACCATTTCAACATCAGAA 0.323 Ovarian(6;283 369 8234 12290 33402) NA 11 20 0 0 0.00245 0 0 C4orf3 401152 broad.mit.edu 37 4 120221638 120221638 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:120221638C>T uc003icv.3 - 1 331 c.53G>A c.(52-54)CGA>CAA p.R18Q NM_001001701 NP_001001701 Q8WVX3 CD003_HUMAN hypothetical protein LOC401152 18 integral to membrane 0 GCTAAAGCCTCGCCGCTCCCG 0.567 NA 47 35 0 0 0.01441 0 0 USP38 84640 broad.mit.edu 37 4 144118998 144118998 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:144118998C>T uc003ijb.2 + 4 1505 c.971C>T c.(970-972)CCT>CTT p.P324L USP38_uc003ija.3_Missense_Mutation_p.P324L|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 324 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) CTTTGGTTTCCTCTTGTGAGA 0.388 NA 66 46 0 0 0.01441 0 0 MARCH1 55016 broad.mit.edu 37 4 164449921 164449921 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr4:164449921G>T uc003iqs.1 - 8 1826 c.849C>A c.(847-849)CCC>CCA p.P283P MARCH1_uc003iqr.1_Silent_p.P266P NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 283 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAACTTCAGGGGGGCCACCCT 0.453 NA 35 25 2.87052e-16 3.61438e-16 0.005524 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 182248 182248 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:182248C>T uc003jak.2 + 18 3676 c.3626C>T c.(3625-3627)TCG>TTG p.S1209L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1209 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ATCCTGGGGTCGCTGGGCCTG 0.637 NA 46 53 0 0 0.01441 0 0 FBXL7 23194 broad.mit.edu 37 5 15928526 15928526 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:15928526G>T uc003jfn.1 + 3 1136 c.655G>T c.(655-657)GTC>TTC p.V219F NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 219 LRR 2. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GCGACTGGAAGTCTCAGGCTG 0.562 NA 31 63 1.36615e-20 1.79159e-20 0.013726 1 0 SLC45A2 51151 broad.mit.edu 37 5 33947450 33947450 + Nonsense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:33947450C>A uc003jid.2 - 6 1278 c.1186G>T c.(1186-1188)GGA>TGA p.G396* SLC45A2_uc003jie.2_Nonsense_Mutation_p.G396* NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 396 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CCCTTTAATCCAATGTAGGAT 0.448 Ovarian(31;380 859 8490 22203 49048) NA 60 130 2.08403e-16 2.63282e-16 0.01441 1 0 OSMR 9180 broad.mit.edu 37 5 38919157 38919157 + Silent SNP C C T rs61734274 byFrequency TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:38919157C>T uc003jln.1 + 11 1945 c.1578C>T c.(1576-1578)CCC>CCT p.P526P OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 526 Fibronectin type-III 3.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CTGCAGACCCCGAAAACAGTG 0.373 NA 48 69 0 0 0.01441 0 0 C7 730 broad.mit.edu 37 5 40979921 40979921 + Missense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:40979921A>T uc003jmh.2 + 17 2374 c.2260A>T c.(2260-2262)AAT>TAT p.N754Y C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 754 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCAGGGTAGAAATTACACCCT 0.498 NA 28 33 0 0 0.012213 0 0 NAIP 4671 broad.mit.edu 37 5 70308281 70308281 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:70308281C>A uc003kar.1 - 4 1180 c.462G>T c.(460-462)ATG>ATT p.M154I NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.M154I|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 154 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CTTGGTACCTCATTTTACCTC 0.473 NA 23 402 2.98393e-07 3.24974e-07 0.00278 1 0 VCAN 1462 broad.mit.edu 37 5 82786237 82786237 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:82786237G>T uc003kii.3 + 3 747 c.391G>T c.(391-393)GAC>TAC p.D131Y VCAN_uc003kij.3_Missense_Mutation_p.D131Y|VCAN_uc010jau.2_Missense_Mutation_p.D131Y|VCAN_uc003kik.3_Missense_Mutation_p.D131Y|VCAN_uc003kih.3_Missense_Mutation_p.D131Y NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 131 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTACCGCTGTGACGTCATGTA 0.522 NA 62 66 1.8515e-17 2.36269e-17 0.01441 1 0 VCAN 1462 broad.mit.edu 37 5 82833543 82833543 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:82833543T>A uc003kii.3 + 8 5077 c.4721T>A c.(4720-4722)GTA>GAA p.V1574E VCAN_uc003kij.3_Missense_Mutation_p.V587E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V238E NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1574 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGTGAAGAGGTAGAAAAAAGT 0.408 NA 32 67 0 0 0.003271 0 0 PJA2 9867 broad.mit.edu 37 5 108704449 108704449 + Splice_Site SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:108704449T>A uc003kos.3 - 5 1504 c.1284_splice c.e5-1 p.S428_splice NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) CATTCAGAACTGCAAATCAGA 0.318 NA 11 58 0 0 0.00245 0 0 FBXL21 26223 broad.mit.edu 37 5 135272539 135272539 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:135272539G>A uc010jec.1 + 2 277 c.256G>A c.(256-258)GAA>AAA p.E86K FBXL21_uc003lbc.2_RNA NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 86 rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGAAAGTTTGAATTTGAACT 0.368 NA 27 70 0 0 0.004656 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216087 149216087 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:149216087G>T uc003lrc.2 + 8 2111 c.2069G>T c.(2068-2070)GGA>GTA p.G690V PPARGC1B_uc003lrb.1_Missense_Mutation_p.G690V|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G651V|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G669V|PPARGC1B_uc003lre.1_Missense_Mutation_p.G669V NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 690 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGTTCCTTTGGAGACCATGAC 0.627 NA 40 49 4.0181e-32 5.64022e-32 0.01441 1 0 GLRA1 2741 broad.mit.edu 37 5 151266343 151266343 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:151266343G>A uc003lut.2 - 3 478 c.191C>T c.(190-192)CCA>CTA p.P64L GLRA1_uc003lur.2_Missense_Mutation_p.P64L|GLRA1_uc003lus.2_5'UTR NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 64 Extracellular (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACGTTCACTGGGGGACCTGC 0.488 NA 9 40 0 0 0.013537 0 0 NMUR2 56923 broad.mit.edu 37 5 151784223 151784223 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:151784223G>C uc003luv.2 - 1 618 c.452C>G c.(451-453)CCG>CGG p.P151R NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 151 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GGCGCGGAACGGGTGTAGGAT 0.642 NA 39 54 0 0 0.013114 0 0 ATP10B 23120 broad.mit.edu 37 5 160039758 160039758 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:160039758G>T uc003lym.1 - 18 3675 c.2828C>A c.(2827-2829)ACA>AAA p.T943K ATP10B_uc010jit.1_Missense_Mutation_p.T260K|ATP10B_uc003lyn.2_Missense_Mutation_p.T501K NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 943 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGATTCTCTGTATTGATGGT 0.473 NA 22 21 4.16121e-05 4.4053e-05 0.00278 1 0 DBN1 1627 broad.mit.edu 37 5 176885526 176885526 + Nonsense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:176885526C>A uc003mgy.2 - 12 1481 c.1309G>T c.(1309-1311)GAG>TAG p.E437* DBN1_uc011dga.1_Nonsense_Mutation_p.E169*|DBN1_uc003mgx.2_Nonsense_Mutation_p.E439*|DBN1_uc010jkn.1_Nonsense_Mutation_p.E387*|DBN1_uc003mgz.1_Nonsense_Mutation_p.E420* NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 437 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) 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) GTGGCAGGCTCCACGGGAGCA 0.637 NA 16 41 2.4624e-09 2.78582e-09 0.008871 1 0 DBN1 1627 broad.mit.edu 37 5 176894024 176894024 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:176894024C>T uc003mgy.2 - 7 767 c.595G>A c.(595-597)GCC>ACC p.A199T DBN1_uc003mgx.2_Missense_Mutation_p.A201T|DBN1_uc010jkn.1_Missense_Mutation_p.A149T|DBN1_uc003mgz.1_Missense_Mutation_p.A136T NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 199 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) 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) TCATCCAGGGCCTTCTTCCGC 0.672 NA 24 95 0 0 0.005443 0 0 PROP1 5626 broad.mit.edu 37 5 177421277 177421277 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:177421277G>A uc003mif.1 - 2 481 c.172C>T c.(172-174)CCG>TCG p.P58S NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 58 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) CCTCCTTGCGGGGAGAACCTT 0.657 NA 6 26 0 0 0.001168 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555091 178555091 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:178555091G>A uc003mjw.2 - 17 2486 c.2486C>T c.(2485-2487)TCA>TTA p.S829L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 829 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTACGTCAGTGAGACCCGGGT 0.572 NA 32 38 0 0 0.009535 0 0 RNF130 55819 broad.mit.edu 37 5 179467544 179467544 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:179467544C>G uc003mll.1 - 2 758 c.351G>C c.(349-351)GAG>GAC p.E117D RNF130_uc003mlm.1_Missense_Mutation_p.E117D NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 117 Extracellular (Potential).|PA. apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGATATTTTCTCTTTAAACG 0.448 GBM(24;432 554 38471 39699 51728) NA 34 113 0 0 0.003755 0 0 TRIM7 81786 broad.mit.edu 37 5 180625764 180625764 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr5:180625764G>C uc003mmz.1 - 5 981 c.914C>G c.(913-915)TCT>TGT p.S305C TRIM7_uc003mmv.1_Missense_Mutation_p.S123C|TRIM7_uc003mmw.1_Missense_Mutation_p.S97C|TRIM7_uc003mmx.1_Missense_Mutation_p.S97C|TRIM7_uc003mmy.1_Missense_Mutation_p.S97C NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 305 cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CTTCATCTCAGAAGAGACTGT 0.527 Esophageal Squamous(128;2258 2308 35507 48647) NA 10 34 0 0 0.010729 0 0 SCAND3 114821 broad.mit.edu 37 6 28540528 28540528 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:28540528C>A uc003nlo.2 - 4 3756 c.3138G>T c.(3136-3138)ATG>ATT p.M1046I NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1046 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gatcagcttccatattatcac 0 NA 66 50 3.83939e-23 5.16003e-23 0.01441 1 0 OR12D2 26529 broad.mit.edu 37 6 29364792 29364792 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:29364792G>T uc003nmf.3 + 1 377 c.316G>T c.(316-318)GGC>TGC p.G106C NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACTCCCTGGGCAGCACGGA 0.493 NA 16 16 6.5261e-18 8.4129e-18 0.00874 1 0 SIM1 6492 broad.mit.edu 37 6 100838959 100838959 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:100838959G>T uc003pqj.3 - 11 1786 c.1579C>A c.(1579-1581)CAT>AAT p.H527N SIM1_uc010kcu.2_Missense_Mutation_p.H527N NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 527 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCATCCCAATGACCTCGCCCT 0.393 NA 45 31 2.68985e-26 3.69367e-26 0.01441 1 0 TIAM2 26230 broad.mit.edu 37 6 155465909 155465909 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:155465909C>T uc003qqb.2 + 8 3073 c.1800C>T c.(1798-1800)TTC>TTT p.F600F TIAM2_uc003qqe.2_Silent_p.F600F|TIAM2_uc010kjj.2_Silent_p.F133F NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 600 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCTACCTTTTCCAGGTACTGC 0.403 NA 72 67 0 0 0.01441 0 0 LPA 4018 broad.mit.edu 37 6 160953584 160953584 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:160953584G>A uc003qtl.2 - 39 6060 c.5940C>T c.(5938-5940)GCC>GCT p.A1980A NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4488 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAGTGCCTCTGGCCAAATGCT 0.473 NA 42 28 0 0 0.010771 0 0 PDE10A 10846 broad.mit.edu 37 6 165808736 165808736 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr6:165808736C>A uc003qun.2 - 16 1650 c.1409G>T c.(1408-1410)GGT>GTT p.G470V PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G400V|PDE10A_uc003quo.2_Missense_Mutation_p.G480V NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 470 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TTCAAAAGGACCAATGTCAAA 0.328 Esophageal Squamous(22;308 615 5753 12038 40624) NA 31 24 1.26612e-14 1.55294e-14 0.003271 1 0 SDK1 221935 broad.mit.edu 37 7 4153810 4153810 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:4153810G>A uc003smx.2 + 25 3866 c.3727G>A c.(3727-3729)GAG>AAG p.E1243K SDK1_uc010kso.2_Missense_Mutation_p.E519K NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1243 Fibronectin type-III 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGAGGAGCTGGAGGAGTGGAT 0.632 NA 24 60 0 0 0.003954 0 0 BBS9 27241 broad.mit.edu 37 7 33397600 33397600 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:33397600C>A uc003tdn.1 + 16 2199 c.1686C>A c.(1684-1686)CTC>CTA p.L562L BBS9_uc003tdo.1_Silent_p.L527L|BBS9_uc003tdp.1_Silent_p.L557L|BBS9_uc003tdq.1_Silent_p.L522L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.L86L|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.L440L NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 562 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) TTCTTAGTCTCTTCCCAGGTA 0.383 NA Bardet-Biedl_syndrome 9 146 0.00448238 0.00460385 0.004482 1 0 Unknown 0 broad.mit.edu 37 7 38279737 38279737 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:38279737G>A uc003tfu.3 - 5 507 c.272C>T c.(271-273)TCT>TTT p.S91F uc003tfv.2_Missense_Mutation_p.S91F SubName: Full=TARP protein; NA GTAATATGCAGAGGTGTTTGT 0.423 NA 25 23 0 0 0.00632 0 0 ABCA13 154664 broad.mit.edu 37 7 48266982 48266982 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:48266982G>T uc003toq.2 + 6 617 c.592G>T c.(592-594)GGC>TGC p.G198C ABCA13_uc003top.2_Missense_Mutation_p.G198C|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 198 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGTGGAAGATGGCATGGATGT 0.373 NA 51 57 4.98926e-31 6.9776e-31 0.01441 1 0 FKBP9L 360132 broad.mit.edu 37 7 55753014 55753014 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:55753014C>G uc010kzl.2 - 5 536 c.436G>C c.(436-438)GGC>CGC p.G146R FKBP9L_uc010kzk.2_Missense_Mutation_p.G35R|FKBP9L_uc003tqt.2_Missense_Mutation_p.G35R|FKBP9L_uc011kcs.1_Missense_Mutation_p.G35R NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 ACGGCACTGCCGGGCACTTCT 0.602 NA 4 34 0 0 0.009096 0 0 TRRAP 8295 broad.mit.edu 37 7 98563408 98563408 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:98563408G>T uc003upp.2 + 48 7254 c.7045G>T c.(7045-7047)GCC>TCC p.A2349S TRRAP_uc011kis.1_Missense_Mutation_p.A2331S|TRRAP_uc003upr.2_Missense_Mutation_p.A2048S NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2349 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTTCATCCAGGCCATCCTGAC 0.542 NA 12 298 4.84862e-15 5.98575e-15 0.010729 1 0 ACHE 43 broad.mit.edu 37 7 100490353 100490353 + Silent SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:100490353G>A uc003uxd.2 - 2 1311 c.1155C>T c.(1153-1155)ATC>ATT p.I385I ACHE_uc003uxe.2_Silent_p.I385I|ACHE_uc003uxf.2_Silent_p.I385I|ACHE_uc003uxg.2_Silent_p.I385I|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Silent_p.I385I NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 385 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CGGCCCGGCTGATGAGAGACT 0.622 NA 46 90 0 0 0.01441 0 0 DNAJC2 27000 broad.mit.edu 37 7 102968127 102968127 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:102968127C>G uc003vbo.2 - 4 657 c.406G>C c.(406-408)GAC>CAC p.D136H PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.D136H|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 136 J. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 GTGAAGTAGTCATTATCTCCT 0.333 NA 21 331 0 0 0.010504 0 0 WNT2 7472 broad.mit.edu 37 7 116937675 116937675 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:116937675G>T uc003viz.2 - 4 1144 c.844C>A c.(844-846)CGA>AGA p.R282R WNT2_uc003vja.2_Silent_p.R186R NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 282 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGCCTCTCGGTCCCTGATA 0.403 NA 68 42 1.86864e-30 2.5942e-30 0.01441 1 0 FEZF1 389549 broad.mit.edu 37 7 121943805 121943805 + Nonsense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:121943805G>T uc003vkd.2 - 1 761 c.687C>A c.(685-687)TAC>TAA p.Y229* FEZF1_uc003vkc.2_Nonsense_Mutation_p.Y179*|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 229 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 TTTCTTTCATGTAATGCTGCA 0.502 NA 93 54 5.70515e-31 7.94945e-31 0.01441 1 0 AKR1B15 441282 broad.mit.edu 37 7 134253052 134253052 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:134253052G>T uc011kpr.1 + 4 592 c.293G>T c.(292-294)CGG>CTG p.R98L AKR1B15_uc003vrt.2_Missense_Mutation_p.R70L|AKR1B15_uc011kps.1_Missense_Mutation_p.R70L NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 98 oxidoreductase activity ovary(1) 1 GCTGTGATGCGGGAGGACCTG 0.517 NA 86 56 9.62396e-42 1.37641e-41 0.01441 1 0 CUL1 8454 broad.mit.edu 37 7 148497615 148497615 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr7:148497615G>C uc010lpg.2 + 22 2798 c.2272G>C c.(2272-2274)GAG>CAG p.E758Q CUL1_uc003wey.2_Missense_Mutation_p.E758Q|CUL1_uc003wez.2_Missense_Mutation_p.E648Q|CUL1_uc003wfa.2_Missense_Mutation_p.E419Q NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 758 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CATTCTAATTGAGAAAGAATA 0.408 NA 24 91 0 0 0.004656 0 0 CSMD1 64478 broad.mit.edu 37 8 3063038 3063038 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:3063038G>T uc011kwk.1 - 31 5365 c.4975C>A c.(4975-4977)CCA>ACA p.P1659T CSMD1_uc011kwj.1_Missense_Mutation_p.P1051T|CSMD1_uc003wqe.2_Missense_Mutation_p.P815T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1659 Extracellular (Potential).|CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AATTCCTTTGGTACCGTGATG 0.393 NA 4 2 0.00909568 0.00929181 0.009096 1 0 DLC1 10395 broad.mit.edu 37 8 12957250 12957250 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:12957250G>A uc003wwm.2 - 9 3040 c.2596C>T c.(2596-2598)CGC>TGC p.R866C DLC1_uc003wwk.1_Missense_Mutation_p.R429C|DLC1_uc003wwl.1_Missense_Mutation_p.R463C|DLC1_uc011kxx.1_Missense_Mutation_p.R355C NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 866 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GAAGAATTGCGTCTCTTCAGT 0.587 NA 17 13 0 0 0.008871 0 0 DOCK5 80005 broad.mit.edu 37 8 25182907 25182907 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:25182907A>G uc003xeg.2 + 18 1884 c.1747A>G c.(1747-1749)AAA>GAA p.K583E DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.K297E|DOCK5_uc003xei.2_Missense_Mutation_p.K153E|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 583 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGAAGATGCTAAATTCTACCT 0.403 Pancreas(145;34 1887 3271 10937 30165) NA 46 32 0 0 0.01441 0 0 TEX15 56154 broad.mit.edu 37 8 30705190 30705190 + Missense_Mutation SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:30705190T>A uc003xil.2 - 1 1344 c.1344A>T c.(1342-1344)GAA>GAT p.E448D NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 448 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GACCCCTATCTTCAACATAAG 0.328 NA 99 85 0 0 0.01441 0 0 HTRA4 203100 broad.mit.edu 37 8 38831817 38831817 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:38831817G>T uc003xmj.2 + 1 150 c.35G>T c.(34-36)GGA>GTA p.G12V NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 12 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCGGGGCTGGGACGATGCCTC 0.627 NA 7 5 0.000157383 0.000165231 0.00308 1 0 SNTG1 54212 broad.mit.edu 37 8 51449322 51449322 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:51449322C>T uc010lxy.1 + 12 1005 c.634C>T c.(634-636)CTT>TTT p.L212F SNTG1_uc003xqs.1_Missense_Mutation_p.L212F|SNTG1_uc010lxz.1_Missense_Mutation_p.L212F|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 212 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATCCCTCTACTTCATTCGCG 0.483 NA 146 121 0 0 0.01441 0 0 LY96 23643 broad.mit.edu 37 8 74903787 74903787 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:74903787G>T uc003yad.2 + 1 201 c.110G>T c.(109-111)TGT>TTT p.C37F NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN MD-2 protein precursor 37 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding 0 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TACACCTACTGTGGTAAGTAA 0.393 GBM(131;1357 1748 34893 50149 52212) NA 35 186 1.66425e-11 1.95279e-11 0.004878 1 0 ZBTB10 65986 broad.mit.edu 37 8 81426180 81426180 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:81426180G>C uc003ybx.3 + 3 2495 c.1897G>C c.(1897-1899)GAT>CAT p.D633H ZBTB10_uc003ybv.3_Missense_Mutation_p.D341H|ZBTB10_uc003ybw.3_Missense_Mutation_p.D633H|ZBTB10_uc010lzt.2_Missense_Mutation_p.D631H NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 633 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) GCCAGATGGTGATAGGAATGT 0.413 NA 11 44 0 0 0.013537 0 0 RUNX1T1 862 broad.mit.edu 37 8 92983040 92983040 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:92983040G>T uc003yfd.2 - 10 1469 c.1385C>A c.(1384-1386)ACG>AAG p.T462K RUNX1T1_uc003yfc.1_Missense_Mutation_p.T435K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T425K|RUNX1T1_uc010mao.2_Missense_Mutation_p.T435K|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T473K|RUNX1T1_uc010man.1_Missense_Mutation_p.T87K|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T425K NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 462 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E462K(1) lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTGCAGCTCCGTCATCGCCTG 0.587 NA 21 49 3.08376e-08 3.38767e-08 0.00333 1 0 KIAA0196 9897 broad.mit.edu 37 8 126091004 126091004 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:126091004C>G uc003yrt.2 - 6 1016 c.687G>C c.(685-687)CTG>CTC p.L229L KIAA0196_uc011lir.1_Silent_p.L81L NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 229 L -> R (in Ref. 4; AAH26951). cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATCAGATCTCAGTCGACCAA 0.403 NA 74 59 0 0 0.01441 0 0 JRK 8629 broad.mit.edu 37 8 143747207 143747207 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:143747207G>A uc003ywo.2 - 2 785 c.271C>T c.(271-273)CGC>TGC p.R91C JRK_uc003ywp.2_Missense_Mutation_p.R91C|JRK_uc010mew.1_Missense_Mutation_p.R91C NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) tacaggacgcggtccaggtgc 0 NA 8 5 0 0 0.008291 0 0 ZNF623 9831 broad.mit.edu 37 8 144733027 144733027 + Missense_Mutation SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr8:144733027A>T uc003yzd.2 + 1 1074 c.985A>T c.(985-987)ATT>TTT p.I329F ZNF623_uc011lkp.1_Missense_Mutation_p.I289F|ZNF623_uc003yzc.2_Missense_Mutation_p.I289F NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 329 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAAAGCCTTTATTCGGAGTTC 0.488 NA 26 78 0 0 0.005443 0 0 DMRT3 58524 broad.mit.edu 37 9 990765 990765 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:990765C>A uc003zgw.1 + 2 1217 c.1179C>A c.(1177-1179)AAC>AAA p.N393K NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 393 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCCTGTGGAACACCATGACGC 0.577 NA 15 15 5.01169e-05 5.2909e-05 0.00499 1 0 ZCCHC7 84186 broad.mit.edu 37 9 37305697 37305697 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:37305697G>T uc003zzq.2 + 5 1110 c.937G>T c.(937-939)GGC>TGC p.G313C ZCCHC7_uc011lqh.1_Missense_Mutation_p.G23C|ZCCHC7_uc011lqi.1_Missense_Mutation_p.G312C|ZCCHC7_uc010mlt.2_Missense_Mutation_p.G312C NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 313 CCHC-type 3. nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) TCATATGCTAGGCCACTATAC 0.423 NA 33 30 3.90053e-15 4.83104e-15 0.012213 1 0 C9orf30 91283 broad.mit.edu 37 9 103213223 103213223 + Missense_Mutation SNP A A G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:103213223A>G uc004baw.2 + 3 870 c.803A>G c.(802-804)AAC>AGC p.N268S TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_RNA NM_080655 NP_542386 Q96H12 CI030_HUMAN hypothetical protein LOC91283 268 ovary(1) 1 Acute lymphoblastic leukemia(62;0.0527) TCCTCATTTAACCGGCCCTTT 0.418 NA 52 13 0 0 0.01441 0 0 ABCA1 19 broad.mit.edu 37 9 107550287 107550287 + Missense_Mutation SNP T T G rs150283412 TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:107550287T>G uc004bcl.2 - 46 6431 c.6118A>C c.(6118-6120)AAA>CAA p.K2040Q NIPSNAP3B_uc004bcj.1_RNA NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2040 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAGCATATTTTTCTCCATAC 0.473 NA 43 124 0 0 0.011902 0 0 SVEP1 79987 broad.mit.edu 37 9 113194786 113194786 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:113194786C>A uc010mtz.2 - 31 5526 c.5189G>T c.(5188-5190)TGT>TTT p.C1730F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1730 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ATTATCTGTACAGAACATCCT 0.453 NA 90 40 1.16668e-32 1.64376e-32 0.01441 1 0 STXBP1 6812 broad.mit.edu 37 9 130428493 130428493 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:130428493G>C uc004brl.2 + 9 909 c.712G>C c.(712-714)GAC>CAC p.D238H STXBP1_uc004brk.2_Missense_Mutation_p.D238H NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 238 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 TCGAGGCTTTGACCCCAGCTC 0.517 NA 47 37 0 0 0.01441 0 0 AIF1L 83543 broad.mit.edu 37 9 133995667 133995667 + Silent SNP A A T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:133995667A>T uc004cab.1 + 6 516 c.411A>T c.(409-411)CCA>CCT p.P137P AIF1L_uc004cad.1_Silent_p.P163P|AIF1L_uc004cae.1_3'UTR|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Silent_p.P142P NM_031426 NP_113614 Q9BQI0 AIF1L_HUMAN ionized calcium binding adapter molecule 2 137 actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding 0 GCCCCAAGCCAGTTGGCCCCC 0.532 Esophageal Squamous(95;611 1423 5044 34794 42333) NA 25 17 0 0 0.009535 0 0 EHMT1 79813 broad.mit.edu 37 9 140611349 140611349 + Silent SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr9:140611349C>G uc011mfc.1 + 3 394 c.357C>G c.(355-357)GTC>GTG p.V119V EHMT1_uc004coa.2_Silent_p.V119V|EHMT1_uc004cob.1_Silent_p.V88V NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 119 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AGACTTCTGTCATCGGCAGCA 0.537 NA 78 35 0 0 0.01441 0 0 MXRA5 25878 broad.mit.edu 37 X 3242083 3242083 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:3242083G>A uc004crg.3 - 5 1800 c.1643C>T c.(1642-1644)TCT>TTT p.S548F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 548 Ig-like C2-type 1. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCTGAGTCAGATGGCTCCAT 0.542 NA 6 8 0 0 0.004482 0 0 MID1 4281 broad.mit.edu 37 X 10535644 10535644 + Splice_Site SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:10535644C>T uc004cte.3 - 2 136 c.-55_splice c.e2-1 MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Splice_Site|MID1_uc004cth.3_Splice_Site|MID1_uc004ctk.3_Splice_Site|MID1_uc004cti.3_Splice_Site|MID1_uc004ctj.3_Splice_Site|MID1_uc011mie.1_Splice_Site|MID1_uc004ctm.1_Splice_Site|MID1_uc004ctn.1_Splice_Site|MID1_uc004cto.1_Splice_Site|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Splice_Site|MID1_uc004ctu.2_Splice_Site|MID1_uc004ctv.2_Splice_Site|MID1_uc004ctw.2_Splice_Site|MID1_uc010ndy.1_Splice_Site|uc010ndz.1_5'Flank|MID1_uc004cty.2_Splice_Site|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Splice_Site|MID1_uc004cub.1_Splice_Site|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Splice_Site|MID1_uc004cud.1_Splice_Site|MID1_uc004cue.1_Splice_Site|MID1_uc004cuf.1_Splice_Site|MID1_uc004cug.1_Intron NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 GATCAGCTATCTGGAAACAAG 0.453 NA 5 23 0 0 0.000602 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254710 30254710 + Silent SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:30254710C>A uc004dca.1 + 5 1406 c.669C>A c.(667-669)ATC>ATA p.I223I NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 223 MAGE. 0 AGGAGAAGATCTGGGAATTCC 0.473 NA 7 11 0.000274275 0.000287155 0.004482 1 0 MAGEB1 4112 broad.mit.edu 37 X 30268769 30268769 + Silent SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:30268769T>A uc004dcc.2 + 4 479 c.159T>A c.(157-159)CCT>CCA p.P53P MAGEB1_uc004dcd.2_Silent_p.P53P|MAGEB1_uc004dce.2_Silent_p.P53P NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 53 0 CAAGCTCCCCTGCTGCTGGCA 0.587 NA 6 7 0 0 0.001984 0 0 RBM10 8241 broad.mit.edu 37 X 47044476 47044477 + Missense_Mutation DNP GG GG AT TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:47044476_47044477GG>AT uc004dhf.2 + 18 2352_2353 c.1973_1974GG>AT c.(1972-1974)TGG>TAT p.W658Y RBM10_uc004dhg.2_Missense_Mutation_p.W580Y|RBM10_uc004dhh.2_Missense_Mutation_p.W657Y|RBM10_uc010nhq.2_Missense_Mutation_p.W581Y|RBM10_uc004dhi.2_Missense_Mutation_p.W723Y NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 658 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 ATGGAACGCTGGGCCCGCAGTC 0.525 Melanoma(171;120 2705 19495 39241) NA 6 4 0 0 0.004672 0 0 GLOD5 392465 broad.mit.edu 37 X 48629475 48629475 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:48629475G>C uc011mmh.1 + 3 375 c.334G>C c.(334-336)GAG>CAG p.E112Q NM_001080489 NP_001073958 glyoxalase domain containing 5 0 GGTGCCTTTGGAGGAAATGAT 0.488 NA 11 8 0 0 0.001855 0 0 NRK 203447 broad.mit.edu 37 X 105167242 105167242 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:105167242G>A uc004emd.2 + 18 3046 c.2743G>A c.(2743-2745)GAA>AAA p.E915K NRK_uc010npc.1_Missense_Mutation_p.E583K NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 915 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TCAGCCACCTGAAGAGGATGG 0.313 NA HNSCC(51;0.14) 17 17 0 0 0.006122 0 0 MBNL3 55796 broad.mit.edu 37 X 131573492 131573492 + Missense_Mutation SNP G G A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chrX:131573492G>A uc004ewv.3 - 1 227 c.148C>T c.(148-150)CGT>TGT p.R50C MBNL3_uc004eww.2_5'UTR|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ewu.3_Missense_Mutation_p.R50C NM_018388 NP_060858 Q9NUK0 MBNL3_HUMAN muscleblind-like 3 isoform G 50 C3H1-type 2. mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) GCCACCACACGACCATTTTCC 0.393 NA 22 97 0 0 0.00278 0 0 MEAF6 64769 broad.mit.edu 37 1 37979055 37979075 + In_Frame_Del DEL GAATAATATTGCCATACATCT GAATAATATTGCCATACATCT - TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 GAATAATATTGCCATACATCT GAATAATATTGCCATACATCT - - GAATAATATTGCCATACATCT GAATAATATTGCCATACATCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:37979055_37979075delGAATAATATTGCCATACATCT uc001cbg.1 - 2 172_192 c.155_175delAGATGTATGGCAATATTATTC c.(154-177)CAGATGTATGGCAATATTATTCGT>CGT p.QMYGNII52del MEAF6_uc001cbd.1_In_Frame_Del_p.QMYGNII30del|MEAF6_uc001cbe.1_In_Frame_Del_p.QMYGNII52del|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_In_Frame_Del_p.QMYGNII52del NM_022756 NP_073593 Q9HAF1 EAF6_HUMAN MYST/Esa1-associated factor 6 52_58 histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding 0 TCCCAGCCACGAATAATATTGCCATACATCTGAGTGTCTTC 0.425 NA 26 120 --- --- --- --- NA NA NA NA NA C1orf35 79169 broad.mit.edu 37 1 228289088 228289093 + In_Frame_Del DEL TCTTTG TCTTTG - TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 TCTTTG TCTTTG - - TCTTTG TCTTTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr1:228289088_228289093delTCTTTG uc001hrx.2 - 7 709_714 c.615_620delCAAAGA c.(613-621)GACAAAGAG>GAG p.DK205del C1orf35_uc009xew.2_RNA NM_024319 NP_077295 Q9BU76 MMTA2_HUMAN hypothetical protein LOC79169 205_206 Lys-rich. 0 Prostate(94;0.0488) CCGCCTGTGCTCTTTGTCTttcttct 0.422 NA 21 47 --- --- --- --- NA NA NA NA NA NLRP5 126206 broad.mit.edu 37 19 56538866 56538867 + Frame_Shift_Ins INS - - CC TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr19:56538866_56538867insCC uc002qmj.2 + 7 1267_1268 c.1267_1268insCC c.(1267-1269)TCTfs p.S423fs NLRP5_uc002qmi.2_Frame_Shift_Ins_p.S404fs NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 423 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGAGGTCGTGTCTCCCCGTTAC 0.55 NA 11 13 --- --- --- --- NA NA NA NA NA ALPP 250 broad.mit.edu 37 2 233244592 233244592 + Frame_Shift_Del DEL C C - TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc45b4de-4c03-4fe4-89e0-d1cf378084b6 9e14ff2f-9657-4899-b988-f3b449284d39 g.chr2:233244592delC uc002vsq.2 + 5 768 c.603delC c.(601-603)CGCfs p.R201fs ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 201 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCTCCGCCCGCCAGGAGGGGT 0.667 NA 34 40 --- --- --- --- NA NA NA NA NA