Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut C1orf187 374946 broad.mit.edu 37 1 11775204 11775204 + Silent SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:11775204C>G uc001asr.1 + 6 1016 c.876C>G c.(874-876)CTC>CTG p.L292L NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 292 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) GGGAGCATCTCTGCACACCCC 0.622 NA 19 63 0 0 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268030 21268030 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:21268030C>T uc001bec.2 - 9 1705 c.1449G>A c.(1447-1449)GAG>GAA p.E483E EIF4G3_uc010odi.1_Silent_p.E87E|EIF4G3_uc010odj.1_Silent_p.E482E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.E483E|EIF4G3_uc001bef.2_Silent_p.E482E|EIF4G3_uc001bee.2_Silent_p.E489E|EIF4G3_uc001beg.2_Silent_p.E482E|EIF4G3_uc010odk.1_Silent_p.E483E|EIF4G3_uc001beh.2_Silent_p.E494E NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 483 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) AATCCAAAATCTCTTCTGTTT 0.433 NA 30 170 0 0 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33065908 33065908 + Missense_Mutation SNP A A C rs147884621 byFrequency TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:33065908A>C uc001bvn.2 + 5 1699 c.1214A>C c.(1213-1215)GAG>GCG p.E405A ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_RNA NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGAAGATGAGAATAGATCC 0.428 NA 5 44 0 0 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282750 47282750 + Silent SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:47282750C>G uc001cqm.3 + 9 1185 c.1101C>G c.(1099-1101)ACC>ACG p.T367T CYP4B1_uc001cqn.3_Silent_p.T368T|CYP4B1_uc009vym.2_Silent_p.T353T|CYP4B1_uc010omk.1_Silent_p.T204T NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 367 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CTTATCTGACCATGTGCATCA 0.547 NA 22 97 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91817197 91817197 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:91817197C>T uc001doa.3 - 17 2081 c.1981G>A c.(1981-1983)GAC>AAC p.D661N HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.D340N|HFM1_uc010osv.1_Missense_Mutation_p.D345N NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 661 Helicase C-terminal. 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) GCTGTAGTGTCAAACTGGGGA 0.378 NA 16 65 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102290711 102290711 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:102290711C>G uc001duf.2 - 4 594 c.523G>C c.(523-525)GAG>CAG p.E175Q OLFM3_uc001dug.2_Missense_Mutation_p.E155Q|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.E80Q|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 175 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CTTATTTCCTCCTTGAACTGG 0.458 NA 7 26 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152279707 152279707 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:152279707C>T uc001ezu.1 - 3 7691 c.7655G>A c.(7654-7656)GGA>GAA p.G2552E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2552 Ser-rich.|Filaggrin 15. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGATTGTCCCTGGCCCAC 0.592 NA Ichthyosis 13 330 0 0 0 0 NUP210L 91181 broad.mit.edu 37 1 154018842 154018842 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:154018842C>T uc001fdw.2 - 26 3559 c.3487G>A c.(3487-3489)GAA>AAA p.E1163K NUP210L_uc009woq.2_Missense_Mutation_p.E72K|NUP210L_uc010peh.1_Missense_Mutation_p.E1163K NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1163 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATCTGTACTTCATCCTGCTCA 0.463 NA 7 36 0 0 0 0 GON4L 54856 broad.mit.edu 37 1 155720453 155720453 + Silent SNP A A G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:155720453A>G uc001flz.2 - 32 6745 c.6648T>C c.(6646-6648)GAT>GAC p.D2216D MSTO2P_uc010pgp.1_RNA|GON4L_uc001flx.1_Silent_p.D50D|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.D2215D|GON4L_uc009wrh.1_Silent_p.D2215D|GON4L_uc001fma.1_Silent_p.D2216D NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 2216 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGTTGCATCATCCTCATCCT 0.512 NA 3 13 0 0 0 0 HSPA6 3310 broad.mit.edu 37 1 161495705 161495705 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:161495705C>T uc001gap.2 + 2 1917 c.1257C>T c.(1255-1257)AAC>AAT p.N419N HSPA6_uc001gaq.2_Silent_p.N419N NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 419 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCCAGAGGAACGCCACTATCC 0.582 NA 4 33 0 0 0 0 UCK2 7371 broad.mit.edu 37 1 165877020 165877020 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:165877020G>A uc001gdp.2 + 7 927 c.746G>A c.(745-747)CGC>CAC p.R249H UCK2_uc010plb.1_Missense_Mutation_p.R111H NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 249 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) ACCCCTTCACGCAAGAGGCAG 0.612 NA 22 87 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 168037616 168037616 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:168037616C>T uc001gew.2 + 18 2675 c.2433C>T c.(2431-2433)CTC>CTT p.L811L DCAF6_uc001gev.2_Silent_p.L831L|DCAF6_uc001gex.2_Silent_p.L902L|DCAF6_uc010plk.1_Silent_p.L871L|DCAF6_uc001gey.2_Silent_p.L684L|DCAF6_uc001gez.2_Silent_p.L114L NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 811 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAAACGAACTCATGCTGGAAG 0.373 NA 9 49 0 0 0 0 XCL2 6846 broad.mit.edu 37 1 168511261 168511261 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:168511261G>C uc001gfn.3 - 2 179 c.146C>G c.(145-147)ACC>AGC p.T49S NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 49 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) TTCCGTGATGGTGTAGGTCTT 0.488 NA 4 45 0 0 0 0 XCL1 6375 broad.mit.edu 37 1 168549385 168549385 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:168549385C>G uc001gfo.1 + 2 166 c.146C>G c.(145-147)ACC>AGC p.T49S NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 49 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) AAGACCTACACCATCACGGAA 0.483 NA 12 102 0 0 0 0 FAM20B 9917 broad.mit.edu 37 1 179013306 179013306 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:179013306G>A uc001gmc.2 + 2 617 c.324G>A c.(322-324)CTG>CTA p.L108L NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 108 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 GGACACAGCTGAAAGCCTTAC 0.448 NA 8 51 0 0 0 0 NCF2 4688 broad.mit.edu 37 1 183529328 183529328 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:183529328C>G uc001gqj.3 - 14 1646 c.1371G>C c.(1369-1371)AAG>AAC p.K457N NCF2_uc010pod.1_Missense_Mutation_p.K412N|NCF2_uc010poe.1_Missense_Mutation_p.K376N|NCF2_uc001gqk.3_Missense_Mutation_p.K457N NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 457 SH3 2. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 GGCTGCCTTTCTTAAGCTGAG 0.463 NA 7 167 0 0 0 0 CNST 163882 broad.mit.edu 37 1 246810955 246810956 + Nonsense_Mutation DNP GC GC CT TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:246810955_246810956GC>CT uc001ibp.2 + 9 1830_1831 c.1452_1453GC>CT c.(1450-1455)CTGCAG>CTCTAG p.Q485* CNST_uc001ibo.3_Nonsense_Mutation_p.Q485* NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 485 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 TAAATGAGCTGCAGCAGCCTGA 0.465 NA 15 80 0 0 0 0 OR2G2 81470 broad.mit.edu 37 1 247752501 247752501 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr1:247752501C>T uc010pyy.1 + 1 840 c.840C>T c.(838-840)TTC>TTT p.F280F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTTCTCTCTTCTACACTGTGG 0.363 NA 12 152 0 0 0 0 GTPBP4 23560 broad.mit.edu 37 10 1042133 1042133 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:1042133G>A uc001ift.2 + 4 482 c.411G>A c.(409-411)ATG>ATA p.M137I GTPBP4_uc010qac.1_Translation_Start_Site|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.M21I|GTPBP4_uc010qae.1_Missense_Mutation_p.M90I NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 137 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TGGGACGGATGTGCACAGTGA 0.512 NA 3 17 0 0 0 0 EPC1 80314 broad.mit.edu 37 10 32582604 32582604 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:32582604C>T uc001iwg.1 - 3 645 c.375G>A c.(373-375)GTG>GTA p.V125V EPC1_uc001iwi.3_Silent_p.V75V|EPC1_uc009xlt.2_Silent_p.V75V|EPC1_uc001iwh.1_Silent_p.V125V NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 125 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) TCAGTTTATTCACAAATACTT 0.383 NA 8 36 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421251 37421251 + Silent SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:37421251G>C uc001iza.1 + 4 525 c.426G>C c.(424-426)GCG>GCC p.A142A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 198 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATGCAAATGCGAATGCAGTTA 0.299 NA 6 76 0 0 0 0 AIFM2 84883 broad.mit.edu 37 10 71874076 71874076 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:71874076G>A uc010qjg.1 - 8 993 c.980C>T c.(979-981)ACG>ATG p.T327M AIFM2_uc001jqp.1_Missense_Mutation_p.T327M NM_032797 NP_116186 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor (AIF)-like 327 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1) 1 CAGGAGGAACGTCAGTGCACC 0.592 NA 12 39 0 0 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99025873 99025873 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:99025873G>C uc001knb.2 - 2 95 c.66C>G c.(64-66)ATC>ATG p.I22M ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.I13M|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.I22M|ARHGAP19_uc009xvk.2_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 22 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) CAAAACTGCAGATGGCATCAC 0.408 NA 12 57 0 0 0 0 NOLC1 9221 broad.mit.edu 37 10 103912186 103912186 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr10:103912186C>T uc001kuo.2 + 1 254 c.19C>T c.(19-21)CGC>TGC p.R7C NOLC1_uc001kup.2_Missense_Mutation_p.R7C|NOLC1_uc001kuq.2_Missense_Mutation_p.R7C|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 7 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) CGCCGGCATTCGCCGCGTGGT 0.622 NA 12 72 0 0 0 0 C11orf35 256329 broad.mit.edu 37 11 557988 557988 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:557988C>G uc001lpx.2 - 5 514 c.451G>C c.(451-453)GAG>CAG p.E151Q uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 151 Potential. pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCTCCATCTCCTGGAGCGTG 0.657 NA 11 25 0 0 0 0 C11orf35 256329 broad.mit.edu 37 11 558188 558188 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:558188C>G uc001lpx.2 - 4 435 c.372G>C c.(370-372)TTG>TTC p.L124F uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 124 Potential. pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGTTCCTTCAACTCCTGGA 0.652 NA 7 26 0 0 0 0 OR51A2 401667 broad.mit.edu 37 11 4976057 4976057 + Missense_Mutation SNP T T G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:4976057T>G uc010qyt.1 - 1 887 c.887A>C c.(886-888)AAA>ACA p.K296T NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTTTAGTTTTTACACAATA 0.388 NA 6 73 0 0 0 0 OR51A2 401667 broad.mit.edu 37 11 4976440 4976440 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:4976440C>G uc010qyt.1 - 1 504 c.504G>C c.(502-504)TTG>TTC p.L168F NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCAATATCTCAAGCTTCTTA 0.423 NA 41 211 0 0 0 0 OR4D6 219983 broad.mit.edu 37 11 59224497 59224497 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:59224497G>A uc010rku.1 + 1 64 c.64G>A c.(64-66)GAG>AAG p.E22K NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACGTTCCCGAGAGCTGGAGTT 0.468 NA 6 112 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68822767 68822767 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:68822767G>A uc001oos.2 + 4 492 c.376G>A c.(376-378)GAG>AAG p.E126K TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.E126K NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 126 Extracellular (Potential). 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) CGGCCTGACCGAGAGTGTCGA 0.672 NA 15 59 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70331427 70331427 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:70331427G>A uc001oqc.2 - 21 5049 c.4971C>T c.(4969-4971)CTC>CTT p.L1657L SHANK2_uc010rqn.1_Silent_p.L1069L|SHANK2_uc001opz.2_Silent_p.L1062L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1278 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCTTGGAGCGAGGCTGGCGG 0.577 NA 10 47 0 0 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249246 71249246 + Missense_Mutation SNP A A C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:71249246A>C uc001oqr.1 + 1 176 c.145A>C c.(145-147)AGC>CGC p.S49R NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 49 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 TTCCTGCTCCAGCTGTGGCTC 0.682 NA 14 321 0 0 0 0 MAP6 4135 broad.mit.edu 37 11 75316987 75316987 + Silent SNP C C T rs139425764 byFrequency TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr11:75316987C>T uc001owu.2 - 3 1247 c.1182G>A c.(1180-1182)ACG>ACA p.T394T MAP6_uc001owv.2_Silent_p.T394T NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 394 Calmodulin-binding (By similarity). Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) TGGCCTTCCTCGTGGGCTTAT 0.532 NA 14 40 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12284974 12284974 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:12284974G>A uc001rah.3 - 18 3893 c.3751C>T c.(3751-3753)CCT>TCT p.P1251S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1251 Extracellular (Potential).|LDL-receptor class A 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AACTGCTGAGGAGAACATGTT 0.453 NA 5 74 0 0 0 0 EPS8 2059 broad.mit.edu 37 12 15800065 15800065 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:15800065C>T uc009zif.2 - 15 1658 c.1564G>A c.(1564-1566)GAT>AAT p.D522N EPS8_uc001rdb.2_Missense_Mutation_p.D522N|EPS8_uc009zig.2_Missense_Mutation_p.D262N|EPS8_uc010shv.1_Missense_Mutation_p.D262N NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 522 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGTTACCTATCTATATGGCGA 0.448 NA 7 74 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20890094 20890094 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:20890094G>C uc001rej.3 + 12 1791 c.1436G>C c.(1435-1437)AGA>ACA p.R479T SLCO1C1_uc010sii.1_Missense_Mutation_p.R479T|SLCO1C1_uc010sij.1_Missense_Mutation_p.R430T|SLCO1C1_uc009zip.2_Missense_Mutation_p.R313T|SLCO1C1_uc001rei.2_Missense_Mutation_p.R479T|SLCO1C1_uc010sik.1_Missense_Mutation_p.R361T NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 479 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TGCAACTCAAGATGCAAATGT 0.388 NA 3 37 0 0 0 0 SYT10 341359 broad.mit.edu 37 12 33532834 33532834 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:33532834C>T uc001rll.1 - 6 1730 c.1433G>A c.(1432-1434)CGA>CAA p.R478Q SYT10_uc009zju.1_Missense_Mutation_p.R288Q NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 478 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CCAGTGGTCTCGCCCAAGACC 0.458 NA 22 89 0 0 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186313 50186313 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:50186313G>A uc009zlk.2 - 12 3910 c.3708C>T c.(3706-3708)TTC>TTT p.F1236F NCKAP5L_uc001rvc.3_Silent_p.F440F|NCKAP5L_uc001rvb.2_Silent_p.F829F NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1232 Pro-rich. central_nervous_system(1) 1 TAGTATTGGGGAAGGTCCAGT 0.632 NA 5 46 0 0 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686010 108686010 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:108686010C>T uc009zuw.2 - 3 921 c.730G>A c.(730-732)GTG>ATG p.V244M CMKLR1_uc001tmw.2_Missense_Mutation_p.V244M|CMKLR1_uc001tmv.2_Missense_Mutation_p.V242M|CMKLR1_uc009zuv.2_Missense_Mutation_p.V244M NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 244 Helical; Name=5; (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 AGTTTGCACACGATGGTGAGG 0.557 NA 4 38 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 117977627 117977627 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:117977627C>T uc001two.2 - 10 1552 c.1497G>A c.(1495-1497)ACG>ACA p.T499T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 528 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGAGGAGGGCGTGGAGGACG 0.632 NA 11 34 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124330339 124330339 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:124330339C>T uc001uft.3 + 30 5224 c.5199C>T c.(5197-5199)AAC>AAT p.N1733N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1733 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAAGCAAAAACGACAGGAAAA 0.473 NA 6 75 0 0 0 0 DDX51 317781 broad.mit.edu 37 12 132626474 132626474 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr12:132626474C>T uc001ujy.3 - 6 955 c.916G>A c.(916-918)GAT>AAT p.D306N NOC4L_uc001ujz.1_5'Flank NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 306 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GGTGTGGCATCTGTGTAGATG 0.547 NA 4 34 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32757152 32757152 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr13:32757152C>G uc001utx.2 + 24 3531 c.3035C>G c.(3034-3036)GCT>GGT p.A1012G FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1012 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATGAAAGAAGCTCTGGAAAGA 0.323 NA 32 34 0 0 0 0 TRPC4 7223 broad.mit.edu 37 13 38320194 38320194 + Silent SNP C C T rs115609911 by1000genomes TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr13:38320194C>T uc001uws.2 - 3 1012 c.777G>A c.(775-777)ACG>ACA p.T259T TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.T259T|TRPC4_uc010tey.1_Silent_p.T259T|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Silent_p.T259T|TRPC4_uc010aby.2_Silent_p.T259T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 259 Potential.|Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGGAACTTCTCGTCTGATCCA 0.408 NA 11 115 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110827073 110827073 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr13:110827073G>A uc001vqw.3 - 38 3344 c.3222C>T c.(3220-3222)TTC>TTT p.F1074F COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1074 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCTTCCTGGGAAACCCGCTA 0.498 NA 16 180 0 0 0 0 TFDP1 7027 broad.mit.edu 37 13 114290326 114290326 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr13:114290326G>A uc001vtw.2 + 9 934 c.722G>A c.(721-723)CGG>CAG p.R241Q TFDP1_uc010tkd.1_Missense_Mutation_p.R146Q|TFDP1_uc010tke.1_Missense_Mutation_p.R146Q|TFDP1_uc001vty.3_Missense_Mutation_p.R241Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R121Q NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 241 Dimerization (Potential).|Enhances binding of RB protein to E2F.|DCB1. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) CAGAGAAACCGGCATGCGGAG 0.587 NA TSP Lung(29;0.18) 9 70 0 0 0 0 PTGER2 5732 broad.mit.edu 37 14 52794009 52794009 + Nonsense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr14:52794009C>G uc001wzr.2 + 2 1165 c.914C>G c.(913-915)TCA>TGA p.S305* NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 305 Helical; Name=7; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) AGGTTTTTATCAATTAATTCA 0.388 NA 13 47 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64691756 64691756 + Missense_Mutation SNP G G A rs146398606 byFrequency TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr14:64691756G>A uc001xgm.2 + 114 20673 c.20443G>A c.(20443-20445)GAG>AAG p.E6815K SYNE2_uc001xgl.2_Missense_Mutation_p.E6837K|SYNE2_uc010apy.2_Missense_Mutation_p.E3200K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1776K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E785K|SYNE2_uc001xgq.2_Missense_Mutation_p.E1194K|SYNE2_uc001xgr.2_Missense_Mutation_p.E598K|SYNE2_uc010tsi.1_Missense_Mutation_p.E472K|SYNE2_uc001xgs.2_Missense_Mutation_p.E486K|SYNE2_uc001xgt.2_Missense_Mutation_p.E359K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6815 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGAGGAGACAGAGAGCAGGTA 0.488 NA 7 22 0 0 0 0 GTF2A1 2957 broad.mit.edu 37 14 81659171 81659171 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr14:81659171G>A uc001xvf.1 - 7 1057 c.625C>T c.(625-627)CTT>TTT p.L209F GTF2A1_uc010atb.1_Missense_Mutation_p.L159F|GTF2A1_uc001xvg.1_Missense_Mutation_p.L170F NM_015859 NP_056943 P52655 TF2AA_HUMAN TFIIA alpha, p55 isoform 1 209 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0287) CCTCCAGGAAGAGGAGCCAGC 0.413 NA 7 137 0 0 0 0 KCNK13 56659 broad.mit.edu 37 14 90650623 90650623 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr14:90650623G>A uc001xye.1 + 2 945 c.503G>A c.(502-504)CGA>CAA p.R168Q NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 168 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) CTCCGGAGACGAGGGGCCCTG 0.607 NA 22 77 0 0 0 0 CHGA 1113 broad.mit.edu 37 14 93397717 93397717 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr14:93397717G>A uc001ybc.3 + 6 738 c.478G>A c.(478-480)GAG>AAG p.E160K CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron NM_001275 NP_001266 P10645 CMGA_HUMAN chromogranin A precursor 160 regulation of blood pressure extracellular region|stored secretory granule skin(2) 2 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GCCCATGCAGGAGTCCAAGGC 0.532 NA 4 20 0 0 0 0 ACSBG1 23205 broad.mit.edu 37 15 78465941 78465941 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr15:78465941C>G uc002bdh.2 - 13 2139 c.2083G>C c.(2083-2085)GAG>CAG p.E695Q ACSBG1_uc010umw.1_Missense_Mutation_p.E691Q|ACSBG1_uc010umx.1_Missense_Mutation_p.E453Q NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 695 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CTACCCAACTCTCCACCCGAA 0.587 NA 8 43 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85328024 85328024 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr15:85328024C>T uc002bld.2 + 4 2454 c.2118C>T c.(2116-2118)CTC>CTT p.L706L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 706 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTGTGAGGCTCATCCGGTACT 0.582 NA 7 70 0 0 0 0 C16orf91 283951 broad.mit.edu 37 16 1470388 1470388 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:1470388G>A uc002clr.2 - 2 279 c.258C>T c.(256-258)CTC>CTT p.L86L C16orf91_uc010uvd.1_Silent_p.L243L NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN hypothetical protein LOC283951 86 Helical; (Potential). integral to membrane 0 TCAGCGCCACGAGGAAGCAGC 0.632 NA 15 74 0 0 0 0 COQ7 10229 broad.mit.edu 37 16 19085308 19085308 + Silent SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:19085308C>G uc002dfr.2 + 3 378 c.318C>G c.(316-318)GTC>GTG p.V106V COQ7_uc002dfs.2_Silent_p.V92V NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 106 1.|2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 CGTTCAGGGTCCGGCCAACAG 0.438 NA 5 23 0 0 0 0 TMC5 79838 broad.mit.edu 37 16 19505660 19505660 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:19505660C>T uc002dgc.3 + 20 3652 c.2903C>T c.(2902-2904)TCA>TTA p.S968L TMC5_uc010vaq.1_Missense_Mutation_p.S916L|TMC5_uc002dgb.3_Missense_Mutation_p.S910L|TMC5_uc010var.1_Missense_Mutation_p.S968L|TMC5_uc002dge.3_Missense_Mutation_p.S722L|TMC5_uc002dgf.3_Missense_Mutation_p.S651L|TMC5_uc002dgg.3_Missense_Mutation_p.S609L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 968 Extracellular (Potential). integral to membrane skin(1) 1 AACCCCAGCTCACTTGTTCTG 0.488 NA 23 116 0 0 0 0 ATXN2L 11273 broad.mit.edu 37 16 28843600 28843600 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:28843600C>T uc002drc.2 + 11 1564 c.1396C>T c.(1396-1398)CCC>TCC p.P466S uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.P466S|ATXN2L_uc002drb.2_Missense_Mutation_p.P466S|ATXN2L_uc002dqy.2_Missense_Mutation_p.P466S|ATXN2L_uc002dra.2_Missense_Mutation_p.P466S|ATXN2L_uc002dqz.2_Missense_Mutation_p.P466S|ATXN2L_uc010vdb.1_Missense_Mutation_p.P472S|ATXN2L_uc002dre.2_Missense_Mutation_p.P466S|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 466 membrane upper_aerodigestive_tract(1)|ovary(1) 2 TCCAGAGCCTCCCATCGGCTC 0.587 NA 10 53 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30990939 30990939 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:30990939G>C uc002ead.1 + 14 4518 c.3832G>C c.(3832-3834)GAG>CAG p.E1278Q NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1278 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 TGAAGACTCAGAGGCCACAGA 0.701 NA 6 21 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49672148 49672148 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:49672148G>A uc002efs.2 - 5 1213 c.915C>T c.(913-915)GTC>GTT p.V305V ZNF423_uc010vgn.1_Silent_p.V188V NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 305 C2H2-type 7. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGTTCTCGTCGACGAAGACCT 0.607 NA 10 31 0 0 0 0 KIAA0182 23199 broad.mit.edu 37 16 85697133 85697133 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr16:85697133G>A uc002fix.2 + 11 2631 c.2557G>A c.(2557-2559)GAG>AAG p.E853K KIAA0182_uc002fiw.2_Missense_Mutation_p.E749K|KIAA0182_uc002fiy.2_Missense_Mutation_p.E780K|KIAA0182_uc002fiz.2_Missense_Mutation_p.E33K|KIAA0182_uc010cho.2_Missense_Mutation_p.E33K NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 853 protein binding large_intestine(3)|ovary(1)|skin(1) 5 CAGCCCTGATGAGATGAACAA 0.562 NA 21 55 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8045157 8045157 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:8045157C>T uc002gkd.2 - 22 3804 c.3566G>A c.(3565-3567)CGG>CAG p.R1189Q PER1_uc010cns.2_Missense_Mutation_p.R63Q|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1189 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TTGGCCCTTCCGGACCCAGGA 0.577 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 20 116 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11520897 11520897 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:11520897G>A uc002gne.2 + 5 1142 c.1074G>A c.(1072-1074)CTG>CTA p.L358L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 358 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGGGAAGGCTGACTGTGCTGC 0.612 NA 5 79 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18025472 18025472 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:18025472C>T uc010vxh.1 + 2 3696 c.3358C>T c.(3358-3360)CGT>TGT p.R1120C NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1120 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) GGTCATGCCTCGTGTGCAGAA 0.652 NA 12 44 0 0 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799179 20799179 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:20799179C>G uc002gyf.2 - 1 275 c.155G>C c.(154-156)AGC>ACC p.S52T uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 52 0 CTTCCACCAGCTGTAGGAGAA 0.622 NA 4 72 0 0 0 0 SEZ6 124925 broad.mit.edu 37 17 27286455 27286455 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:27286455C>T uc002hdp.2 - 9 2001 c.1807G>A c.(1807-1809)GTG>ATG p.V603M SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.V603M|SEZ6_uc002hdq.1_Missense_Mutation_p.V478M NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 603 Extracellular (Potential).|CUB 2. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GAGAGTACCACGCCAGCCGAG 0.587 NA 13 42 0 0 0 0 STAT5A 6776 broad.mit.edu 37 17 40458324 40458324 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:40458324G>A uc002hzj.1 + 14 2181 c.1539G>A c.(1537-1539)ATG>ATA p.M513I STAT5A_uc010cya.1_Missense_Mutation_p.M513I|STAT5A_uc010cyb.1_Missense_Mutation_p.M482I|STAT5A_uc010cyc.1_Missense_Mutation_p.M483I|STAT5A_uc010cyd.1_Missense_Mutation_p.M1I|STAT5A_uc010cye.1_Missense_Mutation_p.M1I NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 513 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CGCTCAACATGAAATTCAAGG 0.572 NA 12 65 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41243826 41243826 + Missense_Mutation SNP G G A rs80357143 TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:41243826G>A uc002icq.2 - 10 3954 c.3722C>T c.(3721-3723)TCT>TTT p.S1241F BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.S1170F|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.S1194F|BRCA1_uc002ict.2_Missense_Mutation_p.S1241F|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.S1241F|BRCA1_uc002ide.1_Missense_Mutation_p.S1072F|BRCA1_uc010cyy.1_Missense_Mutation_p.S1241F|BRCA1_uc010whs.1_Missense_Mutation_p.S1241F|BRCA1_uc010cyz.2_Missense_Mutation_p.S1194F|BRCA1_uc010cza.2_Missense_Mutation_p.S1215F|BRCA1_uc010wht.1_Missense_Mutation_p.S945F NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1241 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ATGCCTAGTAGACTGAGAAGG 0.388 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 6 116 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41245102 41245102 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:41245102G>A uc002icq.2 - 10 2678 c.2446C>T c.(2446-2448)CAT>TAT p.H816Y BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.H745Y|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.H769Y|BRCA1_uc002ict.2_Missense_Mutation_p.H816Y|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.H816Y|BRCA1_uc002ide.1_Missense_Mutation_p.H647Y|BRCA1_uc010cyy.1_Missense_Mutation_p.H816Y|BRCA1_uc010whs.1_Missense_Mutation_p.H816Y|BRCA1_uc010cyz.2_Missense_Mutation_p.H769Y|BRCA1_uc010cza.2_Missense_Mutation_p.H790Y|BRCA1_uc010wht.1_Missense_Mutation_p.H520Y NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 816 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GAACAACCATGAATTAGTCCC 0.398 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 14 248 0 0 0 0 C17orf28 283987 broad.mit.edu 37 17 72955024 72955024 + Missense_Mutation SNP C C A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:72955024C>A uc002jmj.3 - 9 1280 c.1131G>T c.(1129-1131)AAG>AAT p.K377N C17orf28_uc010wrs.1_Missense_Mutation_p.K176N|C17orf28_uc002jmk.2_Missense_Mutation_p.K376N NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 377 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) AGTCGCAGAGCTTCCAGAAGA 0.602 NA OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 14 6.4e-05 7.15e-05 1 0 C17orf101 79701 broad.mit.edu 37 17 80363226 80363226 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:80363226G>A uc002keu.1 - 6 620 c.519C>T c.(517-519)TTC>TTT p.F173F C17orf101_uc002ket.1_Silent_p.F173F|C17orf101_uc010dip.1_RNA NM_024648 NP_078924 Q6PK18 CQ101_HUMAN hypothetical protein LOC79701 isoform 1 173 Lumenal (Potential). integral to membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1) 1 CCTCCTCTGAGAAGATGTTCT 0.517 NA 12 31 0 0 0 0 KIAA0802 23255 broad.mit.edu 37 18 8784808 8784808 + Silent SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr18:8784808G>C uc002knr.2 + 6 1840 c.1698G>C c.(1696-1698)GGG>GGC p.G566G KIAA0802_uc002knq.2_Silent_p.G566G|KIAA0802_uc010dkw.1_Silent_p.G404G NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 917 0 CCCCCATCGGGAACCTGGGGA 0.632 NA 11 58 0 0 0 0 CCDC11 220136 broad.mit.edu 37 18 47765019 47765019 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr18:47765019C>T uc002lee.2 - 7 1361 c.1270G>A c.(1270-1272)GAA>AAA p.E424K NM_145020 NP_659457 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 424 Potential. ovary(1)|pancreas(1)|skin(1) 3 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TTAAGACTTTCATTTATGTGT 0.313 NA 9 33 0 0 0 0 MIER2 54531 broad.mit.edu 37 19 327204 327204 + Nonsense_Mutation SNP G G T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:327204G>T uc002lok.1 - 5 431 c.422C>A c.(421-423)TCA>TAA p.S141* NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCAGCAGATGATTGCGTCTC 0.468 NA 12 216 3.07e-06 3.47e-06 1 0 MPND 84954 broad.mit.edu 37 19 4359198 4359198 + Silent SNP C C T rs141733787 by1000genomes TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:4359198C>T uc002mae.2 + 11 1342 c.1275C>T c.(1273-1275)CTC>CTT p.L425L MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.L405L|MPND_uc002maf.2_Silent_p.L455L|MPND_uc002mah.2_Silent_p.L313L|MPND_uc002mai.2_Silent_p.L314L NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 425 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCTGACCTCGTGAGGCTCC 0.622 NA 10 55 0 0 0 0 ZNF98 148198 broad.mit.edu 37 19 22575483 22575483 + Missense_Mutation SNP T T C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:22575483T>C uc002nqt.2 - 4 676 c.554A>G c.(553-555)AAA>AGA p.K185R NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 185 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTCACATTCTTTACACTTGAA 0.303 NA 2 8 0 0 0 0 PVRL2 5819 broad.mit.edu 37 19 45375325 45375325 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:45375325G>A uc002ozw.1 + 3 1084 c.694G>A c.(694-696)GAT>AAT p.D232N PVRL2_uc002ozv.2_Missense_Mutation_p.D232N NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 232 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GGGCCGAGCAGATGGTGTCAC 0.597 NA 5 63 0 0 0 0 PVRL2 5819 broad.mit.edu 37 19 45375367 45375367 + Missense_Mutation SNP G G A rs138153191 TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:45375367G>A uc002ozw.1 + 3 1126 c.736G>A c.(736-738)GAG>AAG p.E246K PVRL2_uc002ozv.2_Missense_Mutation_p.E246K NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 246 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGAGAGCTTCGAGGAACCAGC 0.592 NA 5 73 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54313983 54313983 + Missense_Mutation SNP C C A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:54313983C>A uc002qch.3 - 3 1150 c.930G>T c.(928-930)TGG>TGT p.W310C NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.W310C|NLRP12_uc002qcj.3_Missense_Mutation_p.W310C|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.W310C NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 310 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGCAGAGGCACCAGGGTCCCT 0.572 NA 6 57 3.6e-05 4.04e-05 1 0 PEG3 5178 broad.mit.edu 37 19 57335885 57335885 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:57335885G>C uc002qnu.2 - 1 490 c.139C>G c.(139-141)CAG>GAG p.Q47E ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q47E|PEG3_uc002qnv.2_Missense_Mutation_p.Q47E|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Q47E NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 47 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CGAAACCTCTGATGAAAAAAC 0.502 NA 14 51 0 0 0 0 ZNF547 284306 broad.mit.edu 37 19 57889020 57889020 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr19:57889020C>G uc002qol.2 + 4 869 c.676C>G c.(676-678)CAC>GAC p.H226D ZNF547_uc002qpm.3_Missense_Mutation_p.H152D|ZNF547_uc010ygx.1_Missense_Mutation_p.H226D NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 226 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGTAAGTCTCACCTTGTTCG 0.433 NA 5 84 0 0 0 0 KIDINS220 57498 broad.mit.edu 37 2 8934023 8934023 + Missense_Mutation SNP T T C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:8934023T>C uc002qzc.2 - 12 1375 c.1193A>G c.(1192-1194)TAT>TGT p.Y398C KIDINS220_uc010yiv.1_Missense_Mutation_p.Y164C|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y356C|KIDINS220_uc010yiw.1_Missense_Mutation_p.Y399C NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 398 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGGGCCTATAAAGTAATCG 0.403 NA 15 46 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655980 40655980 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:40655980C>G uc002rrx.2 - 1 1465 c.1441G>C c.(1441-1443)GAT>CAT p.D481H SLC8A1_uc002rry.2_Missense_Mutation_p.D481H|SLC8A1_uc002rrz.2_Missense_Mutation_p.D481H|SLC8A1_uc002rsa.2_Missense_Mutation_p.D481H|SLC8A1_uc002rsd.3_Missense_Mutation_p.D481H|SLC8A1_uc002rsb.1_Missense_Mutation_p.D481H|SLC8A1_uc010fan.1_Missense_Mutation_p.D481H|SLC8A1_uc002rsc.1_Missense_Mutation_p.D481H NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 481 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATATCATCATCTATGATACCC 0.418 NA 4 59 0 0 0 0 BCL11A 53335 broad.mit.edu 37 2 60688312 60688312 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:60688312C>T uc002sae.1 - 4 1963 c.1735G>A c.(1735-1737)GAG>AAG p.E579K BCL11A_uc002sab.2_Missense_Mutation_p.E579K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E248K|BCL11A_uc010ypj.1_Missense_Mutation_p.E545K|BCL11A_uc002sad.1_Missense_Mutation_p.E427K|BCL11A_uc002saf.1_Missense_Mutation_p.E545K NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 579 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTGTGGCCCTCGGCCTCGGCC 0.667 NA T IGH@ B-CLL 6 24 0 0 0 0 REG3G 130120 broad.mit.edu 37 2 79255340 79255340 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:79255340C>G uc002snw.2 + 6 551 c.466C>G c.(466-468)CTG>GTG p.L156V REG3G_uc002snx.2_Missense_Mutation_p.L156V|REG3G_uc010ffu.2_Missense_Mutation_p.L110V NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 156 C-type lectin. acute-phase response extracellular region sugar binding 0 CCTAGGATTTCTGAAGTGGAA 0.483 NA 12 54 0 0 0 0 REG1A 5967 broad.mit.edu 37 2 79349207 79349207 + Missense_Mutation SNP A A T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:79349207A>T uc002snz.2 + 4 380 c.277A>T c.(277-279)ACT>TCT p.T93S REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.T93S NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 93 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GGAGAGTGGCACTGATGACTT 0.507 NA 17 59 0 0 0 0 IMMT 10989 broad.mit.edu 37 2 86398430 86398430 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:86398430C>T uc002sqz.3 - 5 848 c.460G>A c.(460-462)GAT>AAT p.D154N IMMT_uc002sqy.3_5'UTR|IMMT_uc002srb.3_Missense_Mutation_p.D143N|IMMT_uc002sra.3_Missense_Mutation_p.D154N|IMMT_uc010ytd.1_Missense_Mutation_p.D142N|IMMT_uc010yte.1_Intron|IMMT_uc002src.1_5'UTR|IMMT_uc002srd.2_Missense_Mutation_p.D154N|IMMT_uc002sre.3_Missense_Mutation_p.D143N|IMMT_uc010ytf.1_Intron|IMMT_uc010fgs.1_Missense_Mutation_p.D151N NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 154 Mitochondrial intermembrane (Potential). D -> E (in Ref. 4; BAG35183). integral to mitochondrial inner membrane protein binding skin(1) 1 GACAGGGTATCACCTGCTGCA 0.438 NA 3 10 0 0 0 0 LIPT1 51601 broad.mit.edu 37 2 99779504 99779504 + Missense_Mutation SNP T T C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:99779504T>C uc002szm.3 + 4 1424 c.1084T>C c.(1084-1086)TGG>CGG p.W362R MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.W362R|LIPT1_uc002szo.3_Missense_Mutation_p.W362R|LIPT1_uc002szp.3_Missense_Mutation_p.W362R|LIPT1_uc002szq.3_Missense_Mutation_p.W362R|MRPL30_uc002szr.2_Intron NM_145198 NP_660199 Q9Y234 LIPT_HUMAN lipoyltransferase 1 precursor 362 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity 0 Lipoic Acid(DB00166) AAACAGTAAATGGAATATTCT 0.303 NA 8 66 0 0 0 0 MARCO 8685 broad.mit.edu 37 2 119750046 119750046 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:119750046G>A uc002tln.1 + 15 1378 c.1246G>A c.(1246-1248)GAA>AAA p.E416K MARCO_uc010yyf.1_Missense_Mutation_p.E338K NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 416 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 AGAAAAAGGTGAAAGAGGTAA 0.433 NA 4 38 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152521102 152521102 + Nonsense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:152521102C>T uc010fnx.2 - 44 5555 c.5364G>A c.(5362-5364)TGG>TGA p.W1788* NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1788 Nebulin 46. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTCCTCTTCCCAGCCAGCTT 0.418 NA 5 14 0 0 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735688 162735688 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:162735688G>A uc002ubx.3 + 9 1180 c.996G>A c.(994-996)TCG>TCA p.S332S SLC4A10_uc010fpa.1_Silent_p.S344S|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.S302S|SLC4A10_uc010zcs.1_Silent_p.S313S NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 332 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CTGAAGCATCGAACATCTTAG 0.418 NA 9 51 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168106863 168106863 + Silent SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:168106863G>C uc002udx.2 + 8 8979 c.8961G>C c.(8959-8961)CTG>CTC p.L2987L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L2812L|XIRP2_uc010fpq.2_Silent_p.L2765L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.L333L NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2812 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGGATGGCTGATAAGTGAAG 0.343 NA 22 96 0 0 0 0 PDK1 5163 broad.mit.edu 37 2 173429352 173429352 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:173429352C>G uc002uhr.2 + 4 632 c.532C>G c.(532-534)CAG>GAG p.Q178E PDK1_uc010zdz.1_Missense_Mutation_p.Q23E|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.Q198E|PDK1_uc002uhs.2_Missense_Mutation_p.Q178E|PDK1_uc010zeb.1_Missense_Mutation_p.Q198E NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 178 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) CCAGAATGTTCAGTACTTTTT 0.433 NA Autosomal_Dominant_Polycystic_Kidney_Disease 6 65 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179411092 179411092 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:179411092G>C uc010zfg.1 - 291 87486 c.87262C>G c.(87262-87264)CTA>GTA p.L29088V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L22783V|TTN_uc010zfi.1_Missense_Mutation_p.L22716V|TTN_uc010zfj.1_Missense_Mutation_p.L22591V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30015 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGAGATCTAGCTCCTTGTCT 0.438 NA 14 74 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179411461 179411461 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:179411461G>C uc010zfg.1 - 290 87214 c.86990C>G c.(86989-86991)TCT>TGT p.S28997C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22692C|TTN_uc010zfi.1_Missense_Mutation_p.S22625C|TTN_uc010zfj.1_Missense_Mutation_p.S22500C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29924 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAATTGTCAGATACAATGGT 0.483 NA 15 43 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179585815 179585815 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:179585815C>T uc010zfg.1 - 76 19423 c.19199G>A c.(19198-19200)CGA>CAA p.R6400Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3061Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7327 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGTCATTTCGGAACCATGA 0.393 NA 15 73 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882641 228882641 + Nonsense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr2:228882641G>A uc002vpq.2 - 7 2976 c.2929C>T c.(2929-2931)CGA>TGA p.R977* SPHKAP_uc002vpp.2_Nonsense_Mutation_p.R977*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.R977* NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 977 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCAAGGATCGGCAGGGTACG 0.532 NA 22 56 0 0 0 0 CSNK2A1 1457 broad.mit.edu 37 20 468206 468206 + Nonsense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:468206G>A uc002wdw.1 - 12 1231 c.838C>T c.(838-840)CGA>TGA p.R280* CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R280*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R144* NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 280 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CGTTCCCATCGCTTTCGAGAG 0.507 NA 5 61 0 0 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209061 3209061 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:3209061G>A uc002wig.2 - 18 2498 c.2450C>T c.(2449-2451)CCG>CTG p.P817L SLC4A11_uc010zqe.1_Missense_Mutation_p.P844L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.P801L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 817 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GTAGTGTGTCGGGGGGTACGC 0.672 NA 16 97 0 0 0 0 C20orf132 140699 broad.mit.edu 37 20 35783534 35783534 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:35783534C>G uc010zvu.1 - 11 1127 c.1036G>C c.(1036-1038)GAG>CAG p.E346Q C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.E346Q|C20orf132_uc002xgn.2_Intron NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 Myeloproliferative disorder(115;0.00878) CGTTCCCGCTCATGGTCTTTG 0.498 NA 26 97 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 41100954 41100954 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:41100954C>T uc002xkg.2 - 8 1586 c.1402G>A c.(1402-1404)GAG>AAG p.E468K PTPRT_uc010ggj.2_Missense_Mutation_p.E468K NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 468 Extracellular (Potential).|Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATTCGGCCCTCGGGGTTAGAC 0.592 NA 20 60 0 0 0 0 ELMO2 63916 broad.mit.edu 37 20 45000318 45000318 + Missense_Mutation SNP C C G TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:45000318C>G uc002xrt.1 - 18 1803 c.1593G>C c.(1591-1593)GAG>GAC p.E531D ELMO2_uc010zxq.1_Missense_Mutation_p.E263D|ELMO2_uc002xrs.1_Missense_Mutation_p.E278D|ELMO2_uc002xru.1_Missense_Mutation_p.E531D|ELMO2_uc010zxr.1_Missense_Mutation_p.E543D|ELMO2_uc010zxs.1_Missense_Mutation_p.E348D|ELMO2_uc002xrv.1_Missense_Mutation_p.E250D NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 531 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCTGGATCTTCTCCCTCAGCT 0.617 NA 8 37 0 0 0 0 PREX1 57580 broad.mit.edu 37 20 47274751 47274751 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:47274751C>T uc002xtw.1 - 17 1920 c.1897G>A c.(1897-1899)GAG>AAG p.E633K PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 633 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCATAGTCCTCCTCCTGGGGC 0.672 NA OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 206 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62839693 62839693 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr20:62839693G>C uc002yii.2 + 7 1508 c.1144G>C c.(1144-1146)GAG>CAG p.E382Q MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.E14Q NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 382 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGGCCTCCTGGAGCAGGCCAT 0.647 NA 11 50 0 0 0 0 PKNOX1 5316 broad.mit.edu 37 21 44450050 44450050 + Nonsense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr21:44450050C>T uc002zcq.1 + 11 1338 c.1150C>T c.(1150-1152)CAG>TAG p.Q384* PKNOX1_uc011aex.1_Nonsense_Mutation_p.Q267* NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 384 sequence-specific DNA binding large_intestine(2) 2 GGACAGCCTTCAGTCTCTGTC 0.567 NA 18 87 0 0 0 0 MN1 4330 broad.mit.edu 37 22 28193511 28193511 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr22:28193511C>T uc003adj.2 - 1 3976 c.3021G>A c.(3019-3021)TCG>TCA p.S1007S NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1007 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CCCAGGATGGCGACGTGAGCG 0.697 NA T ETV6 AML|meningioma 15 58 0 0 0 0 ARL8B 55207 broad.mit.edu 37 3 5215724 5215724 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:5215724G>C uc003bqg.2 + 5 616 c.395G>C c.(394-396)AGA>ACA p.R132T ARL8B_uc011asx.1_Missense_Mutation_p.R123T|ARL8B_uc011asy.1_Intron NM_018184 NP_060654 Q9NVJ2 ARL8B_HUMAN ADP-ribosylation factor-like 10C 132 GTP. cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777) GGAAACAAGAGAGATCTTCCT 0.313 NA 17 177 0 0 0 0 NR1D2 9975 broad.mit.edu 37 3 24018766 24018766 + Silent SNP C C T rs138945807 byFrequency TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:24018766C>T uc003ccs.2 + 8 1915 c.1596C>T c.(1594-1596)CTC>CTT p.L532L NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Silent_p.L457L NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 532 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 AGGAAACTCTCATTCGTGCAC 0.368 NA 5 32 0 0 0 0 UQCRC1 7384 broad.mit.edu 37 3 48641703 48641703 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:48641703G>C uc003cub.1 - 5 634 c.589C>G c.(589-591)CTA>GTA p.L197V UQCRC1_uc003cua.1_Missense_Mutation_p.L82V|UQCRC1_uc003cuc.1_Missense_Mutation_p.L197V|UQCRC1_uc003cud.1_Missense_Mutation_p.L197V NM_003365 NP_003356 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 197 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) GCCTGGGCTAGAGGTGTGCCC 0.572 NA 5 93 0 0 0 0 QTRTD1 79691 broad.mit.edu 37 3 113798870 113798870 + Missense_Mutation SNP C C A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:113798870C>A uc003eay.2 + 8 1094 c.864C>A c.(862-864)TTC>TTA p.F288L QTRTD1_uc003eaz.2_Missense_Mutation_p.F300L|QTRTD1_uc011biq.1_Missense_Mutation_p.F165L|QTRTD1_uc011bir.1_Missense_Mutation_p.F182L NM_024638 NP_078914 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain 288 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|skin(1) 2 CCCTGACTTTCAGTTTTGATT 0.413 NA 32 194 6.71e-13 7.69e-13 1 0 NEK11 79858 broad.mit.edu 37 3 131068603 131068603 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:131068603C>T uc003eny.2 + 18 2247 c.1921C>T c.(1921-1923)CTC>TTC p.L641F uc003eoc.1_Intron|NEK11_uc003eoa.2_3'UTR|NEK11_uc003enz.2_Missense_Mutation_p.L459F|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.L457F|NEK11_uc011bll.1_Missense_Mutation_p.L536F NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 641 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 AGAACCTACTCTCCAGAACCA 0.403 NA 5 78 0 0 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163374 141163374 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:141163374C>T uc003etw.2 + 8 3126 c.2144C>T c.(2143-2145)TCG>TTG p.S715L ZBTB38_uc010hun.2_Missense_Mutation_p.S712L|ZBTB38_uc010huo.2_Missense_Mutation_p.S715L|ZBTB38_uc003ety.2_Missense_Mutation_p.S715L|ZBTB38_uc010hup.2_Missense_Mutation_p.S716L NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 715 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCTGCACCCTCGGTCATTGTA 0.522 NA 19 128 0 0 0 0 SI 6476 broad.mit.edu 37 3 164754187 164754187 + Silent SNP T T C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:164754187T>C uc003fei.2 - 22 2567 c.2505A>G c.(2503-2505)GGA>GGG p.G835G NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 835 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTTAGTTTCTCCATCATCCC 0.343 NA HNSCC(35;0.089) 4 74 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171404477 171404477 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:171404477G>A uc003fhs.2 - 16 1981 c.1865C>T c.(1864-1866)GCT>GTT p.A622V PLD1_uc003fht.2_Intron NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 622 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTACTTACCAGCATGAGGTCT 0.443 NA 17 225 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 6 66 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175211 193175211 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:193175211G>A uc003ftd.2 - 15 1826 c.1718C>T c.(1717-1719)CCG>CTG p.P573L ATP13A4_uc003fte.1_Missense_Mutation_p.P573L|ATP13A4_uc011bsr.1_Missense_Mutation_p.P44L|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 573 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGCATGTGCCGGCACTCCCTT 0.458 NA 13 185 0 0 0 0 TNK2 10188 broad.mit.edu 37 3 195608990 195608990 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr3:195608990C>T uc003fvu.1 - 6 1362 c.819G>A c.(817-819)CTG>CTA p.L273L TNK2_uc003fvs.1_Silent_p.L305L|TNK2_uc003fvt.1_Silent_p.L336L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.L103L|TNK2_uc010hzx.1_Intron NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 273 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) GTGCTCGCATCAGCCCAAAGT 0.592 NA 14 110 0 0 0 0 ALB 213 broad.mit.edu 37 4 74274401 74274401 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr4:74274401G>C uc003hgs.3 + 4 434 c.361G>C c.(361-363)GAG>CAG p.E121Q ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.E121Q|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.E11Q|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 121 Albumin 1. E -> G. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ACAAGAACCTGAGAGAAATGA 0.433 NA 7 44 0 0 0 0 GPRIN3 285513 broad.mit.edu 37 4 90171030 90171030 + Missense_Mutation SNP T T C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr4:90171030T>C uc003hsm.1 - 2 751 c.232A>G c.(232-234)ATG>GTG p.M78V NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 78 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGAGAAGACATATCTGGTTGG 0.582 NA 26 63 0 0 0 0 ZNF827 152485 broad.mit.edu 37 4 146824152 146824152 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr4:146824152C>T uc003ikn.2 - 2 307 c.259G>A c.(259-261)GAC>AAC p.D87N ZNF827_uc003ikm.2_Missense_Mutation_p.D87N|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) ACCTCACTGTCCAGTGCCACC 0.602 NA 8 27 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798216 40798216 + Missense_Mutation SNP G G T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr5:40798216G>T uc003jmc.2 - 1 82 c.76C>A c.(76-78)CAC>AAC p.H26N PRKAA1_uc003jmb.2_Missense_Mutation_p.H26N NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 26 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) AGAATGTAGTGGCCGATCTTC 0.577 NA 5 32 2.01e-06 2.28e-06 1 0 C5orf56 441108 broad.mit.edu 37 5 131822224 131822224 + Missense_Mutation SNP T T C rs9282761 byFrequency TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr5:131822224T>C uc010jds.1 + 4 560 c.385T>C c.(385-387)TCC>CCC p.S129P IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron Q8N8D9 CE056_HUMAN Homo sapiens full length insert cDNA clone ZA99C08. Error:Variant_position_missing_in_Q8N8D9_after_alignment 0 CTGTGGGGTCTCCTGCCAGAC 0.612 NA 3 17 0 0 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140855927 140855927 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr5:140855927G>C uc003lkv.1 + 1 359 c.244G>C c.(244-246)GAG>CAG p.E82Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.E82Q|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 82 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAACCGGGAGACCGGAGA 0.572 NA 7 120 0 0 0 0 LY6G5C 80741 broad.mit.edu 37 6 31646945 31646945 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:31646945G>A uc003nvu.1 - 2 213 c.213C>T c.(211-213)TGC>TGT p.C71C LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA NM_025262 NP_079538 Q5SRR4 LY65C_HUMAN lymphocyte antigen 6 complex G5C 74 UPAR/Ly6. extracellular region 0 ATCCCAGAAGGCACCCTAACT 0.542 NA 35 136 0 0 0 0 BAT5 7920 broad.mit.edu 37 6 31655463 31655463 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:31655463C>T uc003nvy.1 - 18 1532 c.1502G>A c.(1501-1503)CGC>CAC p.R501H BAT5_uc003nvx.1_Missense_Mutation_p.R282H|BAT5_uc011dny.1_Missense_Mutation_p.R468H|BAT5_uc003nvz.1_Missense_Mutation_p.R282H|BAT5_uc011dnz.1_Missense_Mutation_p.R282H NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 501 integral to membrane hydrolase activity|protein binding 0 CTGGTAGGAGCGGAGGACAGA 0.597 NA 8 43 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32016196 32016196 + Missense_Mutation SNP A A T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:32016196A>T uc003nzl.2 - 29 10185 c.9983T>A c.(9982-9984)CTC>CAC p.L3328H TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3375 Fibronectin type-III 25. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GAGTCCAAAGAGCAGGAACTT 0.701 NA 6 31 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32017777 32017777 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:32017777G>A uc003nzl.2 - 27 9633 c.9431C>T c.(9430-9432)ACG>ATG p.T3144M NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3191 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCACTCACCCGTCACCCCAAT 0.602 NA 8 83 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112510392 112510392 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:112510392C>T uc003pvu.2 - 7 1043 c.734G>A c.(733-735)GGA>GAA p.G245E LAMA4_uc003pvv.2_Missense_Mutation_p.G245E|LAMA4_uc003pvt.2_Missense_Mutation_p.G245E NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 245 Laminin EGF-like 4; truncated. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACATGGGCCTCCCCCGCAGTT 0.428 NA 5 28 0 0 0 0 RGS17 26575 broad.mit.edu 37 6 153365099 153365099 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr6:153365099G>A uc003qpm.2 - 2 211 c.55C>T c.(55-57)CCT>TCT p.P19S NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 19 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) TGGTTTCCAGGAGCTTGAGAC 0.493 NA Lung_Cancer_Familial_Clustering_of 7 149 0 0 0 0 HOXA1 3198 broad.mit.edu 37 7 27135348 27135348 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr7:27135348C>T uc003sye.2 - 1 278 c.184G>A c.(184-186)GGT>AGT p.G62S HOXA1_uc003syd.2_Missense_Mutation_p.G62S|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 62 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 tggGGCGAACCGATCTGCACC 0.522 NA OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 32 0 0 0 0 HECW1 23072 broad.mit.edu 37 7 43519316 43519316 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr7:43519316G>A uc003tid.1 + 17 3812 c.3207G>A c.(3205-3207)CAG>CAA p.Q1069Q HECW1_uc011kbi.1_Silent_p.Q1035Q NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1069 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGCACCTCCAGAGGCTCCGAA 0.557 NA 7 120 0 0 0 0 MGC26647 219557 broad.mit.edu 37 7 88423630 88423630 + Silent SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr7:88423630G>C uc003ujv.2 - 2 809 c.627C>G c.(625-627)CTC>CTG p.L209L ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 209 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TTTGTTCTGGGAGGAGTAGGT 0.413 NA 13 73 0 0 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432371 107432371 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr7:107432371G>C uc003ver.2 - 4 497 c.286C>G c.(286-288)CTG>GTG p.L96V SLC26A3_uc003ves.2_Missense_Mutation_p.L61V NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 96 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TCGACCAGCAGAGCAAATGCT 0.438 NA 3 39 0 0 0 0 TRPV6 55503 broad.mit.edu 37 7 142569516 142569516 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr7:142569516G>A uc003wbx.1 - 15 2338 c.2122C>T c.(2122-2124)CGT>TGT p.R708C TRPV6_uc003wbw.1_Missense_Mutation_p.R494C|TRPV6_uc010lou.1_Missense_Mutation_p.R579C NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 708 Interaction with calmodulin.|Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) ATTATCCCACGCAGGTCTCTC 0.567 NA 8 62 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61764696 61764696 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr8:61764696G>A uc003xue.2 + 29 6261 c.5784G>A c.(5782-5784)CAG>CAA p.Q1928Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1928 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAGGCAACAGATGAGGCAAG 0.527 NA 7 41 0 0 0 0 CHMP4C 92421 broad.mit.edu 37 8 82670413 82670413 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr8:82670413G>A uc003ycl.2 + 4 694 c.520G>A c.(520-522)GAG>AAG p.E174K NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN chromatin modifying protein 4C 174 Potential.|Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(2) 2 ATTGGAACAGGAGGAATTAAA 0.433 NA 4 52 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116426463 116426463 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr8:116426463C>T uc003ynz.2 - 6 4093 c.3634G>A c.(3634-3636)GAA>AAA p.E1212K TRPS1_uc011lhy.1_Missense_Mutation_p.E1216K|TRPS1_uc003yny.2_Missense_Mutation_p.E1225K|TRPS1_uc010mcy.2_Missense_Mutation_p.E1212K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1212 Transcriptional repressor domain (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTTGAAAGTTCATCTTGAGTA 0.418 NA Langer-Giedion_syndrome 12 62 0 0 0 0 TTC39B 158219 broad.mit.edu 37 9 15214144 15214144 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr9:15214144G>A uc003zlr.1 - 4 398 c.277C>T c.(277-279)CGC>TGC p.R93C TTC39B_uc003zlq.1_Missense_Mutation_p.R62C|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93C|TTC39B_uc011lmq.1_Missense_Mutation_p.R93C|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93C|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62C|TTC39B_uc011lms.1_RNA NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 93 binding ovary(1) 1 TACCAGGGGCGAAGCAATTCT 0.368 NA 17 43 0 0 0 0 CEP78 84131 broad.mit.edu 37 9 80856706 80856706 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr9:80856706G>A uc004akx.2 + 4 870 c.594G>A c.(592-594)AAG>AAA p.K198K CEP78_uc004aky.3_Silent_p.K198K|CEP78_uc010mpp.2_Silent_p.K198K|CEP78_uc011lsp.1_Silent_p.K111K NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 198 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 ACATGGCCAAGATCTTAAAGG 0.343 NA 13 38 0 0 0 0 EGFL6 25975 broad.mit.edu 37 X 13645320 13645320 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:13645320G>A uc004cvi.2 + 11 1716 c.1476G>A c.(1474-1476)GAG>GAA p.E492E EGFL6_uc004cvj.2_Silent_p.E493E NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 492 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 TGGCATGGGAGAAGACCACGA 0.433 NA 6 58 0 0 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470533 70470533 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:70470533G>A uc004dzh.1 - 5 909 c.822C>T c.(820-822)CCC>CCT p.P274P BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P274P|ZMYM3_uc004dzj.1_Silent_p.P274P|ZMYM3_uc011mpu.1_Silent_p.P5P|ZMYM3_uc004dzk.3_Silent_p.P274P|ZMYM3_uc004dzl.3_Silent_p.P274P|ZMYM3_uc004dzm.3_Silent_p.P274P NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 274 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CCTCATCATTGGGGTCATCTA 0.572 NA 4 3 0 0 0 0 PCDH19 57526 broad.mit.edu 37 X 99657583 99657583 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:99657583G>C uc010nmz.2 - 3 4231 c.2555C>G c.(2554-2556)TCT>TGT p.S852C PCDH19_uc004efw.3_Missense_Mutation_p.S805C|PCDH19_uc004efx.3_Missense_Mutation_p.S805C NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 852 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GCTGTTGAAAGAGTGATGGTA 0.577 NA 3 9 0 0 0 0 BEX4 56271 broad.mit.edu 37 X 102471381 102471381 + Silent SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:102471381G>A uc004ejv.3 + 3 535 c.300G>A c.(298-300)AGG>AGA p.R100R BEX4_uc004ejw.3_Silent_p.R100R NM_001080425 NP_001073894 Q9NWD9 BEX4_HUMAN BEX family member 4 100 cytoplasm|nucleus skin(1) 1 AGCAGATGAGGCACTATATGC 0.418 NA 6 59 0 0 0 0 GUCY2F 2986 broad.mit.edu 37 X 108691319 108691319 + Missense_Mutation SNP G G C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:108691319G>C uc004eod.3 - 6 1824 c.1548C>G c.(1546-1548)ATC>ATG p.I516M GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 516 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AGTGGGGATTGATAAACGTTA 0.279 NA 14 24 0 0 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370416 118370416 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:118370416C>T uc004erb.2 + 1 206 c.90C>T c.(88-90)CTC>CTT p.L30L PGRMC1_uc011mts.1_Silent_p.L30L NM_006667 NP_006658 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 30 Helical; (Potential). cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding 0 CGTCGCCGCTCAACCTGCTGC 0.667 NA 11 4 0 0 0 0 CXorf66 347487 broad.mit.edu 37 X 139038791 139038792 + Missense_Mutation DNP TC TC AA TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:139038791_139038792TC>AA uc004fbb.2 - 3 371_372 c.349_350GA>TT c.(349-351)GAC>TTC p.D117F NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 117 Ser-rich.|Cytoplasmic (Potential). integral to membrane 0 AGATGACTTGTCTGCAGTAGAT 0.441 NA 10 60 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716823 142716823 + Missense_Mutation SNP C C A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:142716823C>A uc004fbx.2 - 2 2478 c.2102G>T c.(2101-2103)GGC>GTC p.G701V SLITRK4_uc004fby.2_Missense_Mutation_p.G701V NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 701 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTTCAAGCCACAAGTGTG 0.403 NA 22 67 2.89e-11 3.3e-11 1 0 PLXNB3 5365 broad.mit.edu 37 X 153043515 153043515 + Missense_Mutation SNP G G A TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chrX:153043515G>A uc004fii.2 + 32 5548 c.5374G>A c.(5374-5376)GAC>AAC p.D1792N PLXNB3_uc010nuk.2_Missense_Mutation_p.D1815N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D1431N|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1792 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GACCTTCATTGACTCCTGTAC 0.572 NA 13 18 0 0 0 0 B2M 567 broad.mit.edu 37 15 45007775 45007775 + Frame_Shift_Del DEL G G - TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr15:45007775delG uc001zuc.2 + 2 282 c.222delG c.(220-222)TTGfs p.L74fs B2M_uc010uek.1_Frame_Shift_Del_p.L74fs|B2M_uc010bdx.1_Intron NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 74 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) ATTCAGACTTGTCTTTCAGCA 0.418 NA 8 131 --- --- --- --- NA NA NA NA ZNF750 79755 broad.mit.edu 37 17 80790043 80790044 + Frame_Shift_Del DEL AG AG - TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr17:80790043_80790044delAG uc002kga.2 - 2 598_599 c.287_288delCT c.(286-288)TCTfs p.S96fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 96 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTCGAAGGCAGAGAGTCCATT 0.574 NA 11 66 --- --- --- --- NA NA NA NA NIPBL 25836 broad.mit.edu 37 5 37064919 37064929 + Frame_Shift_Del DEL TGCTAATAAGC TGCTAATAAGC - TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr5:37064919_37064929delTGCTAATAAGC uc003jkl.3 + 47 8839_8849 c.8340_8350delTGCTAATAAGC c.(8338-8352)AGTGCTAATAAGCTGfs p.S2780fs NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2780_2784 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTCTAACGAGTGCTAATAAGCTGACTAATAA 0.427 NA 14 62 --- --- --- --- NA NA NA NA MAPK15 225689 broad.mit.edu 37 8 144803822 144803823 + Frame_Shift_Ins INS - - C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c1a8920-9163-4d56-a982-61c4e792cee7 3e2ad549-5764-4780-a8f5-22d2a57c5e8f g.chr8:144803822_144803823insC uc003yzj.2 + 12 1349_1350 c.1308_1309insC c.(1306-1311)GCGCCCfs p.A436fs NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 436_437 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGAAGGAAGCGCCCCCCTTGAC 0.644 NA 7 135 --- --- --- --- NA NA NA NA