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 ATAD3C 219293 broad.mit.edu 37 1 1390860 1390860 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:1390860C>T uc001aft.2 + 5 1394 c.399C>T c.(397-399)CTC>CTT p.L133L NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 133 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGCGGCTCCTCAGTCGACCCC 0.667 NA 8 21 0 0 0 0 SPSB1 80176 broad.mit.edu 37 1 9427562 9427562 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:9427562G>C uc010oae.1 + 3 1089 c.750G>C c.(748-750)GGG>GGC p.G250G SPSB1_uc001apv.2_Silent_p.G250G NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 250 SOCS box. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) TGGCCCTGGGGAGGGAGCGCC 0.672 NA 13 46 0 0 0 0 SPSB1 80176 broad.mit.edu 37 1 9427566 9427566 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:9427566G>A uc010oae.1 + 3 1093 c.754G>A c.(754-756)GAG>AAG p.E252K SPSB1_uc001apv.2_Missense_Mutation_p.E252K NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 252 SOCS box. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CCTGGGGAGGGAGCGCCTGGG 0.672 NA 13 43 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10702951 10702951 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:10702951G>A uc001aro.2 - 20 4447 c.4127C>T c.(4126-4128)TCC>TTC p.S1376F NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGGGGTGCTGGAGCAGCTCCG 0.667 NA 3 22 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10703259 10703259 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:10703259C>T uc001aro.2 - 19 4298 c.3978G>A c.(3976-3978)CGG>CGA p.R1326R NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1326 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCAGCATCCTCCGCATGTGCT 0.652 NA 7 49 0 0 0 0 LOC649330 649330 broad.mit.edu 37 1 12907868 12907868 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:12907868C>T uc009vno.2 - 1 370 c.275G>A c.(274-276)CGA>CAA p.R92Q HNRNPCL1_uc010obf.1_Missense_Mutation_p.R92Q NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 92 nucleic acid binding|nucleotide binding 0 TGCGTTTCCTCGGTTCACTTT 0.483 NA 9 150 0 0 0 0 KAZ 23254 broad.mit.edu 37 1 15392164 15392164 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:15392164G>A uc001avm.3 + 8 1418 c.1137G>A c.(1135-1137)AAG>AAA p.K379K KAZ_uc009vog.1_Silent_p.K379K|KAZ_uc010obj.1_Silent_p.K379K|KAZ_uc001avo.2_Silent_p.K373K|KAZ_uc001avp.2_Silent_p.K285K|KAZ_uc001avq.2_Silent_p.K285K|KAZ_uc001avr.2_3'UTR NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 379 Poly-Lys. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 GGAAAAAGAAGAAAGAGAAGA 0.552 NA 7 76 0 0 0 0 CROCC 9696 broad.mit.edu 37 1 17292539 17292539 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:17292539G>A uc001azt.2 + 29 4690 c.4621G>A c.(4621-4623)GAG>AAG p.E1541K CROCC_uc001azu.2_Missense_Mutation_p.E844K|CROCC_uc001azv.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1541 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCAGCTGGCCGAGATGGAGGC 0.632 NA 6 34 0 0 0 0 RUNX3 864 broad.mit.edu 37 1 25254140 25254140 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:25254140G>A uc001bjq.2 - 2 775 c.364C>T c.(364-366)CGC>TGC p.R122C RUNX3_uc010oen.1_Missense_Mutation_p.R122C|RUNX3_uc009vrj.2_Missense_Mutation_p.R136C|RUNX3_uc001bjr.2_Missense_Mutation_p.R136C NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 122 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GAGGCATTGCGCAGCTCAGCG 0.632 NA 14 104 0 0 0 0 BAI2 576 broad.mit.edu 37 1 32210323 32210323 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:32210323G>A uc001btn.2 - 5 1202 c.848C>T c.(847-849)CCG>CTG p.P283L BAI2_uc010ogo.1_5'UTR|BAI2_uc010ogp.1_Missense_Mutation_p.P271L|BAI2_uc010ogq.1_Missense_Mutation_p.P283L|BAI2_uc001bto.2_Missense_Mutation_p.P283L|BAI2_uc001btq.1_Missense_Mutation_p.P271L|BAI2_uc010ogr.1_Missense_Mutation_p.P271L NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 283 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TTCCTCTTCCGGCTCCTCACC 0.612 NA 6 39 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35578687 35578687 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:35578687C>T uc001bym.2 + 11 1404 c.1256C>T c.(1255-1257)TCC>TTC p.S419F ZMYM1_uc001byn.2_Missense_Mutation_p.S419F|ZMYM1_uc010ohu.1_Missense_Mutation_p.S400F|ZMYM1_uc001byo.2_Missense_Mutation_p.S59F|ZMYM1_uc009vut.2_Missense_Mutation_p.S344F NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 419 Ser-rich. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCAATTGGTTCCAGTACAGAA 0.368 NA 6 27 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39750825 39750825 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:39750825G>A uc010ois.1 + 13 1422 c.1217G>A c.(1216-1218)GGA>GAA p.G406E MACF1_uc001cda.1_Missense_Mutation_p.G314E NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 406 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGAGTGGGGAAAGCTCATC 0.458 NA 14 68 0 0 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876389 39876389 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:39876389C>T uc009vvt.1 + 1 1214 c.452C>T c.(451-453)TCT>TTT p.S151F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 15 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATAGAAGCTTCTCTCAGTGAG 0.468 NA 6 115 0 0 0 0 SLFNL1 200172 broad.mit.edu 37 1 41481844 41481844 + Silent SNP C C T rs142166637 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:41481844C>T uc001cgm.1 - 5 1378 c.1158G>A c.(1156-1158)GAG>GAA p.E386E SLFNL1_uc009vwf.1_Silent_p.E338E|SLFNL1_uc001cgn.1_Silent_p.E327E|SLFNL1_uc009vwg.1_Silent_p.E386E NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 386 Potential. ATP binding p.E386E(1) skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) GCTGCTCCTTCTCCATCATCA 0.637 NA 14 94 0 0 0 0 SLFNL1 200172 broad.mit.edu 37 1 41481853 41481853 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:41481853C>T uc001cgm.1 - 5 1369 c.1149G>A c.(1147-1149)CTG>CTA p.L383L SLFNL1_uc009vwf.1_Silent_p.L335L|SLFNL1_uc001cgn.1_Silent_p.L324L|SLFNL1_uc009vwg.1_Silent_p.L383L NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 383 Potential. ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) TCTCCATCATCAGCGCCTTCA 0.642 NA 15 90 0 0 0 0 KIF2C 11004 broad.mit.edu 37 1 45221866 45221866 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:45221866G>C uc001cmg.3 + 10 1049 c.934G>C c.(934-936)GAC>CAC p.D312H KIF2C_uc010olb.1_Missense_Mutation_p.D271H|KIF2C_uc010olc.1_Missense_Mutation_p.D199H|KIF2C_uc001cmh.3_Missense_Mutation_p.D258H NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 312 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ATTCTGCTTTGACTTTGCATT 0.423 NA 28 143 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398445 47398445 + Nonsense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:47398445G>C uc001cqp.3 - 11 1403 c.1352C>G c.(1351-1353)TCA>TGA p.S451* CYP4A11_uc001cqq.2_Nonsense_Mutation_p.S451* NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 451 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) TGATCCTCCTGAGAAGGGCAG 0.507 NA 61 311 0 0 0 0 CMPK1 51727 broad.mit.edu 37 1 47840885 47840885 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:47840885C>T uc001cri.2 + 5 714 c.565C>T c.(565-567)CAG>TAG p.Q189* CMPK1_uc010omp.1_Nonsense_Mutation_p.Q140*|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 157 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) GACCTACCTTCAGTCAACAAA 0.368 NA 24 140 0 0 0 0 FAM159A 348378 broad.mit.edu 37 1 53108622 53108622 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:53108622C>T uc001cuf.2 + 2 370 c.270C>T c.(268-270)ATC>ATT p.I90I FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 90 Helical; (Potential). integral to membrane 0 ACCTGTTCATCAGCTCTAAGC 0.527 NA 20 125 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75038328 75038328 + Silent SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:75038328G>T uc001dgg.2 - 14 3285 c.3066C>A c.(3064-3066)GCC>GCA p.A1022A NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1022 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGCAAAGGAAGGCTTCCTTTG 0.502 NA 17 95 0.000175454 0.000181819 1 0 ASB17 127247 broad.mit.edu 37 1 76397847 76397847 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:76397847C>A uc001dhe.1 - 1 270 c.130G>T c.(130-132)GAA>TAA p.E44* ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 44 intracellular signal transduction ovary(1) 1 ATCCTTGGTTCGTAACAGTGA 0.398 NA 34 132 1.41e-09 1.5e-09 1 0 PRKACB 5567 broad.mit.edu 37 1 84650847 84650847 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:84650847G>A uc001djj.2 + 5 665 c.401G>A c.(400-402)AGA>AAA p.R134K PRKACB_uc001djl.2_Missense_Mutation_p.R181K|PRKACB_uc010ort.1_Missense_Mutation_p.R141K|PRKACB_uc001djn.2_Missense_Mutation_p.R138K|PRKACB_uc010oru.1_Missense_Mutation_p.R122K|PRKACB_uc001djp.2_Missense_Mutation_p.R140K|PRKACB_uc001djq.2_Missense_Mutation_p.R104K|PRKACB_uc010orv.1_Missense_Mutation_p.R121K|PRKACB_uc001dji.2_Missense_Mutation_p.R134K|PRKACB_uc001djk.2_Missense_Mutation_p.R181K|PRKACB_uc009wcf.1_Missense_Mutation_p.R140K NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 134 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TCACATCTAAGAAGAATTGGA 0.308 NA 23 152 0 0 0 0 RPF1 80135 broad.mit.edu 37 1 84948646 84948646 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:84948646G>A uc001djv.3 + 3 379 c.334G>A c.(334-336)GAT>AAT p.D112N NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 112 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 GCGAGTGTATGATGAAACCAC 0.318 NA 6 32 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86313410 86313410 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:86313410C>G uc001dlj.2 - 39 3442 c.3400G>C c.(3400-3402)GGT>CGT p.G1134R COL24A1_uc001dli.2_Missense_Mutation_p.G270R|COL24A1_uc010osd.1_Missense_Mutation_p.G434R|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1134 Collagen-like 11. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCAGGAGGACCTCTGCTTCCA 0.418 NA 15 121 0 0 0 0 CLCA1 1179 broad.mit.edu 37 1 86964330 86964330 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:86964330G>C uc001dlt.2 + 13 2318 c.2189G>C c.(2188-2190)AGA>ACA p.R730T NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 730 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TGTTTCAGCAGAACATCCTCG 0.423 NA 13 94 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94502326 94502326 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:94502326C>T uc001dqh.2 - 26 3936 c.3832G>A c.(3832-3834)GAG>AAG p.E1278K NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1278 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCAGAATCCTCCGTGACCTTC 0.438 NA 31 125 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94577116 94577116 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:94577116C>G uc001dqh.2 - 3 284 c.180G>C c.(178-180)GCG>GCC p.A60A ABCA4_uc010otn.1_Silent_p.A60A NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 60 Extracellular. A -> T (in STGD1).|A -> E (in STGD1).|A -> V (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTGAGGGCATCGCCTTGTTGG 0.512 NA 10 52 0 0 0 0 FAM102B 284611 broad.mit.edu 37 1 109154857 109154857 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:109154857C>T uc010ouy.1 + 4 426 c.346C>T c.(346-348)CGC>TGC p.R116C NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 116 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TACCACTCGCCGCTGTTTACT 0.363 NA 24 72 0 0 0 0 CSF1 1435 broad.mit.edu 37 1 110466425 110466425 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:110466425C>G uc001dyu.2 + 6 1595 c.1182C>G c.(1180-1182)CTC>CTG p.L394L CSF1_uc001dyt.2_Intron|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Silent_p.L394L NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 394 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGCCCTGCTCAGAGACCCCC 0.642 NA 9 39 0 0 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150634351 150634351 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:150634351C>T uc001evj.2 - 4 586 c.369G>A c.(367-369)CTG>CTA p.L123L GOLPH3L_uc010pci.1_Silent_p.L79L NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 123 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TGATGTGTTTCAGAGTTTCAT 0.388 NA 17 95 0 0 0 0 DCST1 149095 broad.mit.edu 37 1 155011959 155011959 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:155011959G>A uc001fgn.1 + 5 439 c.343G>A c.(343-345)GAA>AAA p.E115K DCST1_uc010per.1_Missense_Mutation_p.E140K|DCST1_uc010pes.1_Missense_Mutation_p.E90K NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 115 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCTGGGCAAGGAAGGCAGGCT 0.612 NA 5 97 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157648586 157648586 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:157648586C>T uc001frb.2 - 15 2411 c.2119G>A c.(2119-2121)GCT>ACT p.A707T FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A707T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A433T|FCRL3_uc001frc.1_Missense_Mutation_p.A707T NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 707 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CTGCTGCTAGCCTCCCCTGCA 0.468 NA 12 56 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157665912 157665912 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:157665912C>G uc001frb.2 - 7 1342 c.1050G>C c.(1048-1050)GAG>GAC p.E350D FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.E350D|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.E76D|FCRL3_uc001frc.1_Missense_Mutation_p.E350D NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 350 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CTGCATCACTCTCCTTCACGG 0.512 NA 9 64 0 0 0 0 SDHC 6391 broad.mit.edu 37 1 161326611 161326611 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:161326611G>A uc001gag.2 + 5 416 c.386G>A c.(385-387)TGG>TAG p.W129* SDHC_uc001gai.2_Intron|SDHC_uc001gaj.2_Nonsense_Mutation_p.W76*|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Nonsense_Mutation_p.W95* NM_003001 NP_002992 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C 129 Helical; (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity 0 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TATCATACCTGGAATGGGATC 0.463 NA Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome 24 143 0 0 0 0 RGS4 5999 broad.mit.edu 37 1 163039306 163039306 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:163039306C>G uc009wuy.2 + 1 543 c.32C>G c.(31-33)TCT>TGT p.S11C RGS4_uc001gcl.3_Missense_Mutation_p.S108C|RGS4_uc009wuz.2_Missense_Mutation_p.S11C|RGS4_uc009wva.2_5'Flank NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 11 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 CTGCCGGCTTCTTGCTTGAGG 0.438 NA OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 42 0 0 0 0 DUSP27 92235 broad.mit.edu 37 1 167095830 167095830 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:167095830G>C uc001geb.1 + 5 1462 c.1462G>C c.(1462-1464)GAG>CAG p.E488Q NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 488 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GCTGGAGATTGAGAAGGAGGC 0.647 NA 7 27 0 0 0 0 DUSP27 92235 broad.mit.edu 37 1 167097324 167097324 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:167097324G>A uc001geb.1 + 5 2956 c.2956G>A c.(2956-2958)GAG>AAG p.E986K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 986 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ATCCCAGTCAGAGGAACAGGA 0.517 NA 12 59 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169390719 169390719 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:169390719G>C uc001gga.1 - 3 1118 c.950C>G c.(949-951)TCT>TGT p.S317C C1orf114_uc001gfz.1_Missense_Mutation_p.S317C|C1orf114_uc009wvq.1_Missense_Mutation_p.S317C|C1orf114_uc001ggb.2_Missense_Mutation_p.S317C|C1orf114_uc001ggc.1_Missense_Mutation_p.S317C NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 317 0 all_hematologic(923;0.208) CCTGTGATTAGATTTCCCATT 0.458 NA 21 97 0 0 0 0 SOAT1 6646 broad.mit.edu 37 1 179311274 179311274 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:179311274C>T uc001gml.2 + 8 869 c.806C>T c.(805-807)TCA>TTA p.S269L SOAT1_uc010pni.1_Missense_Mutation_p.S204L|SOAT1_uc001gmm.2_Missense_Mutation_p.S211L|SOAT1_uc010pnj.1_Missense_Mutation_p.S5L|SOAT1_uc010pnk.1_Missense_Mutation_p.S204L NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 269 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) AAGGCCCACTCATTTGTCAGA 0.343 NA 14 52 0 0 0 0 QSOX1 5768 broad.mit.edu 37 1 180163447 180163447 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:180163447C>G uc001gnz.2 + 11 1463 c.1388C>G c.(1387-1389)TCC>TGC p.S463C QSOX1_uc001gny.2_Missense_Mutation_p.S463C|QSOX1_uc001goa.2_Missense_Mutation_p.S463C|QSOX1_uc001goc.2_Missense_Mutation_p.S5C NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 463 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 GCTGCTGCCTCCATGCACCGG 0.627 NA 12 48 0 0 0 0 RGS16 6004 broad.mit.edu 37 1 182569610 182569610 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:182569610C>T uc001gpl.3 - 5 580 c.426G>A c.(424-426)ATG>ATA p.M142I NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 142 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 TCTGCAGGTTCATCCTCGTCA 0.592 NA 10 64 0 0 0 0 LAMC2 3918 broad.mit.edu 37 1 183209330 183209330 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:183209330G>C uc001gqa.2 + 21 3539 c.3225G>C c.(3223-3225)CAG>CAC p.Q1075H LAMC2_uc001gpz.3_Missense_Mutation_p.Q1075H|LAMC2_uc010poa.1_Missense_Mutation_p.Q775H NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1075 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 ATGCAGTACAGATGGTGAGTT 0.473 NA 22 81 0 0 0 0 RGL1 23179 broad.mit.edu 37 1 183775568 183775568 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:183775568C>T uc001gqo.2 + 2 244 c.87C>T c.(85-87)CTC>CTT p.L29L RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Silent_p.L64L|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron|RGL1_uc010poi.1_Silent_p.L29L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 29 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 ATGTCACCCTCAAAAGAGTCC 0.473 NA 19 80 0 0 0 0 RGL1 23179 broad.mit.edu 37 1 183853004 183853004 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:183853004C>T uc001gqo.2 + 6 852 c.695C>T c.(694-696)TCA>TTA p.S232L RGL1_uc010pof.1_Missense_Mutation_p.S37L|RGL1_uc001gqm.2_Missense_Mutation_p.S267L|RGL1_uc010pog.1_Missense_Mutation_p.S230L|RGL1_uc010poh.1_Missense_Mutation_p.S230L|RGL1_uc010poi.1_Missense_Mutation_p.S232L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 232 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 ACGTGCTTCTCAGAAGATCTC 0.483 NA 25 111 0 0 0 0 RNF2 6045 broad.mit.edu 37 1 185062311 185062311 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:185062311C>T uc001grc.1 + 4 600 c.367C>T c.(367-369)CAT>TAT p.H123Y RNF2_uc001grd.1_Intron|RNF2_uc001gre.1_RNA NM_007212 NP_009143 Q99496 RING2_HUMAN ring finger protein 2 123 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(1) 1 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) GTATGAAGCTCATCAAGAGAG 0.423 NA 6 44 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186275736 186275736 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:186275736G>A uc001gru.3 + 7 936 c.885G>A c.(883-885)CAG>CAA p.Q295Q PRG4_uc001grt.3_Silent_p.Q254Q|PRG4_uc009wyl.2_Silent_p.Q202Q|PRG4_uc009wym.2_Silent_p.Q161Q|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 295 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAAATAAACAGACTTCAACTG 0.368 NA 32 174 0 0 0 0 TPR 7175 broad.mit.edu 37 1 186315362 186315362 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:186315362G>A uc001grv.2 - 23 3298 c.3001C>T c.(3001-3003)CAG>TAG p.Q1001* NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1001 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AACTGTGTCTGAAATTCAGCT 0.348 NA T NTRK1 papillary thyroid 10 78 0 0 0 0 F13B 2165 broad.mit.edu 37 1 197031034 197031034 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:197031034G>C uc001gtt.1 - 3 375 c.331C>G c.(331-333)CAA>GAA p.Q111E NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 111 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATGTTCTCTTGAATTTTATAC 0.373 NA 6 35 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200524573 200524573 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:200524573C>G uc010ppk.1 - 28 4802 c.4363G>C c.(4363-4365)GAA>CAA p.E1455Q KIF14_uc010ppj.1_Missense_Mutation_p.E964Q NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1455 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding p.E1455Q(1) breast(3)|ovary(2)|skin(2) 7 GTTTTCATTTCTTTGGTAACC 0.259 NA 8 34 0 0 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197211 204197211 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:204197211C>T uc001hau.2 - 21 3348 c.3031G>A c.(3031-3033)GTG>ATG p.V1011M NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 1011 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCCCTCTCACCAGACAGCATG 0.647 NA 7 28 0 0 0 0 PIGR 5284 broad.mit.edu 37 1 207112542 207112542 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:207112542C>T uc001hez.2 - 3 494 c.310G>A c.(310-312)GAC>AAC p.D104N PIGR_uc009xbz.2_Missense_Mutation_p.D104N NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 104 Ig-like V-type 1.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CGCCCGGAGTCATCCTGGCTC 0.582 NA 9 27 0 0 0 0 KCNH1 3756 broad.mit.edu 37 1 210856787 210856787 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:210856787C>T uc001hib.2 - 11 2976 c.2806G>A c.(2806-2808)GAC>AAC p.D936N KCNH1_uc001hic.2_Missense_Mutation_p.D909N NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 936 Cytoplasmic (Potential).|CAD (involved in subunit assembly) (By similarity). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCCTTGATGTCCTCCTTCAGC 0.517 NA 12 50 0 0 0 0 TP53BP2 7159 broad.mit.edu 37 1 223990037 223990037 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:223990037C>T uc010pvb.1 - 9 1298 c.1006G>A c.(1006-1008)GAT>AAT p.D336N TP53BP2_uc001hod.2_Missense_Mutation_p.D207N|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'UTR NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 330 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) AGATTTCCATCAGATGAAACC 0.458 NA 7 49 0 0 0 0 TP53BP2 7159 broad.mit.edu 37 1 223990487 223990487 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:223990487C>G uc010pvb.1 - 8 1234 c.942G>C c.(940-942)CTG>CTC p.L314L TP53BP2_uc001hod.2_Silent_p.L185L|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'Flank NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 308 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GCCGGTCCCTCAGCTCATTAA 0.443 NA 32 131 0 0 0 0 CAPN9 10753 broad.mit.edu 37 1 230907820 230907820 + Missense_Mutation SNP G G C rs145028426 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:230907820G>C uc001htz.1 + 7 963 c.850G>C c.(850-852)GAG>CAG p.E284Q CAPN9_uc009xfg.1_Missense_Mutation_p.E221Q|CAPN9_uc001hua.1_Missense_Mutation_p.E284Q NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 284 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGGCCAGGTTGAGTGGAACGG 0.572 NA 9 58 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232942141 232942141 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:232942141C>T uc001hvh.2 + 1 1504 c.1372C>T c.(1372-1374)CCT>TCT p.P458S NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 316 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) AAAACCGCCCCCTGCACAGGC 0.448 NA 27 167 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235915332 235915332 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:235915332G>A uc001hxj.2 - 27 7775 c.7600C>T c.(7600-7602)CAA>TAA p.Q2534* LYST_uc009xga.1_Nonsense_Mutation_p.Q116* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2534 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGCTATTTTGAAGATATCCA 0.343 NA Chediak-Higashi_syndrome 8 26 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235922480 235922480 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:235922480G>A uc001hxj.2 - 23 6848 c.6673C>T c.(6673-6675)CGC>TGC p.R2225C LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2225 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCAGGTCGGCGTGGGCAGGAC 0.532 NA Chediak-Higashi_syndrome 12 55 0 0 0 0 ZNF124 7678 broad.mit.edu 37 1 247322349 247322349 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:247322349C>G uc001ick.2 - 3 316 c.177G>C c.(175-177)CAG>CAC p.Q59H ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Missense_Mutation_p.Q59H NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CTTCAATGCTCTGGTCTTCCC 0.318 NA 7 28 0 0 0 0 OR2M4 26245 broad.mit.edu 37 1 248402793 248402793 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr1:248402793C>G uc010pzh.1 + 1 563 c.563C>G c.(562-564)TCC>TGC p.S188C NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTACCTCTATCCTGCACAGAA 0.403 NA 6 141 0 0 0 0 ITIH2 3698 broad.mit.edu 37 10 7759731 7759731 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:7759731C>T uc001ijs.2 + 6 772 c.610C>T c.(610-612)CGG>TGG p.R204W NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 204 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 GCAACCTGGACGGCTGGCCAA 0.512 NA 24 135 0 0 0 0 C10orf111 221060 broad.mit.edu 37 10 15138708 15138708 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:15138708C>T uc001inw.2 - 2 390 c.116G>A c.(115-117)AGA>AAA p.R39K RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank NM_153244 NP_694976 Q8N326 CJ111_HUMAN hypothetical protein LOC221060 39 integral to membrane 0 TACTGCCTTTCTCTTTTCGGG 0.498 NA 33 112 0 0 0 0 VIM 7431 broad.mit.edu 37 10 17275592 17275592 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:17275592G>C uc001iou.2 + 4 1044 c.631G>C c.(631-633)GAC>CAC p.D211H VIM_uc001iov.1_Missense_Mutation_p.D211H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.D211H|VIM_uc001ioy.1_Missense_Mutation_p.D211H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.D211H|VIM_uc001ipc.1_Missense_Mutation_p.D211H NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 211 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ATAGGATGTTGACAATGCGTC 0.403 NA 7 37 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250518 18250518 + Missense_Mutation SNP A A T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:18250518A>T uc001ipo.2 + 3 543 c.270A>T c.(268-270)GAA>GAT p.E90D SLC39A12_uc001ipn.2_Missense_Mutation_p.E90D|SLC39A12_uc001ipp.2_Missense_Mutation_p.E90D|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 90 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AGTGCTTTGAACCAGATGCAC 0.368 NA 11 65 0 0 0 0 DNAJC1 64215 broad.mit.edu 37 10 22209807 22209807 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:22209807C>A uc001irc.2 - 4 744 c.457G>T c.(457-459)GAG>TAG p.E153* DNAJC1_uc001ird.2_Nonsense_Mutation_p.E39* NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 153 Lumenal (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) AATGCCAGCTCAGCATTGCTC 0.398 NA 12 63 0.000978159 0.00100257 1 0 ANKRD26 22852 broad.mit.edu 37 10 27306526 27306526 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:27306526C>G uc001ith.2 - 30 4580 c.4408G>C c.(4408-4410)GAA>CAA p.E1470Q ANKRD26_uc001itg.2_Missense_Mutation_p.E1157Q|ANKRD26_uc009xku.1_Missense_Mutation_p.E1471Q NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1470 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGACCAAGTTCTACCATATTC 0.318 NA 19 85 0 0 0 0 FZD8 8325 broad.mit.edu 37 10 35929113 35929113 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:35929113C>T uc001iyz.1 - 1 1250 c.1245G>A c.(1243-1245)GTG>GTA p.V415V NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 415 Helical; Name=3; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 GCGACAAGATCACCCACCAGA 0.632 NA 10 38 0 0 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344019 38344019 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:38344019G>A uc001izh.2 + 5 1142 c.964G>A c.(964-966)GAT>AAT p.D322N ZNF33A_uc001izg.2_Missense_Mutation_p.D323N|ZNF33A_uc010qev.1_Missense_Mutation_p.D329N|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TCAGAAAGGTGATAAAGGAGA 0.423 NA 14 85 0 0 0 0 ANK3 288 broad.mit.edu 37 10 61840377 61840377 + Splice_Site SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:61840377C>T uc001jky.2 - 36 4543 c.4351_splice c.e36-1 p.I1451_splice ANK3_uc001jkw.2_Splice_Site_p.I576_splice|ANK3_uc009xpa.2_Splice_Site_p.I576_splice|ANK3_uc001jkx.2_Splice_Site_p.I620_splice|ANK3_uc010qih.1_Splice_Site_p.I1443_splice|ANK3_uc001jkz.3_Splice_Site_p.I1436_splice|ANK3_uc001jla.1_Intron|ANK3_uc001jkv.2_Splice_Site|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTTTCTCAATCTGAAAAGGAA 0.378 NA 6 37 0 0 0 0 PRF1 5551 broad.mit.edu 37 10 72358020 72358020 + Missense_Mutation SNP T T A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:72358020T>A uc009xqg.2 - 3 1618 c.1457A>T c.(1456-1458)GAC>GTC p.D486V PRF1_uc001jrf.3_Missense_Mutation_p.D486V NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 486 C2. Calcium 2; via carbonyl oxygen (By similarity). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CCTGCCAGAGTCCTGATCCCA 0.572 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 21 72 0 0 0 0 POLR3A 11128 broad.mit.edu 37 10 79784393 79784393 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:79784393C>T uc001jzn.2 - 5 653 c.559G>A c.(559-561)GAT>AAT p.D187N NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 187 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) ACAATGGGATCCACCACTTTT 0.383 NA 13 66 0 0 0 0 LRIT1 26103 broad.mit.edu 37 10 85994045 85994045 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:85994045C>T uc001kcz.1 - 3 701 c.679G>A c.(679-681)GAG>AAG p.E227K NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 227 LRRCT.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 AGTTCAGTCTCAATGAAGGCC 0.582 NA 13 66 0 0 0 0 TMEM20 159371 broad.mit.edu 37 10 95660597 95660597 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:95660597G>A uc001kjg.1 + 3 509 c.448G>A c.(448-450)GCT>ACT p.A150T TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.A149T|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.A133T|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 150 DUF6 1.|Helical; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) TATATACTATGCTTACCAGAC 0.413 NA 15 69 0 0 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97373783 97373783 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:97373783C>T uc001kkz.2 - 14 1983 c.1741G>A c.(1741-1743)GAA>AAA p.E581K ALDH18A1_uc001kky.2_Missense_Mutation_p.E579K|ALDH18A1_uc010qog.1_Missense_Mutation_p.E470K|ALDH18A1_uc010qoh.1_Missense_Mutation_p.E369K NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 581 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CAGATCCCTTCGCTGTGCCCC 0.502 NA 7 179 0 0 0 0 TLL2 7093 broad.mit.edu 37 10 98133495 98133495 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:98133495C>T uc001kml.1 - 19 2746 c.2520G>A c.(2518-2520)CCG>CCA p.P840P NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 840 CUB 4. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCAGGCTGTCCGGCCCGTCAT 0.542 NA 11 61 0 0 0 0 TLX1 3195 broad.mit.edu 37 10 102891411 102891411 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:102891411C>T uc001ksw.2 + 1 351 c.113C>T c.(112-114)TCG>TTG p.S38L TLX1NB_uc001ksv.2_5'Flank NM_005521 NP_005512 P31314 TLX1_HUMAN T-cell leukemia homeobox 1 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGACCCGCCTCGCGCCTCCAG 0.706 NA T TRB@|TRD@ T-ALL 4 16 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105194617 105194617 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:105194617G>A uc001kwy.1 + 25 3817 c.3730G>A c.(3730-3732)GAG>AAG p.E1244K NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1244 S1 motif 11. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GACTCCCAACGAGGGGCTGAC 0.547 NA 10 39 0 0 0 0 COL17A1 1308 broad.mit.edu 37 10 105819884 105819884 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:105819884G>A uc001kxr.2 - 14 1303 c.1134C>T c.(1132-1134)ATC>ATT p.I378I COL17A1_uc010qqv.1_Silent_p.I362I NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 378 Cytoplasmic (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CACTTGCAGCGATGCTGGCAG 0.517 NA 9 67 0 0 0 0 ABLIM1 3983 broad.mit.edu 37 10 116213165 116213165 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:116213165G>A uc010qsg.1 - 13 1618 c.1519C>T c.(1519-1521)CAG>TAG p.Q507* ABLIM1_uc010qsh.1_Nonsense_Mutation_p.Q475*|ABLIM1_uc010qsi.1_Nonsense_Mutation_p.Q447*|ABLIM1_uc010qsk.1_Nonsense_Mutation_p.Q431*|ABLIM1_uc009xyp.2_Nonsense_Mutation_p.Q469*|ABLIM1_uc010qsf.1_Intron|ABLIM1_uc009xyn.2_Intron|ABLIM1_uc010qsj.1_Intron|ABLIM1_uc009xyo.2_Intron NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 507 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TTAGGGGCCTGAGCGTAAGTT 0.532 NA 6 54 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117059722 117059722 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:117059722C>T uc001lcg.2 + 16 2980 c.2594C>T c.(2593-2595)TCT>TTT p.S865F ATRNL1_uc010qsm.1_Missense_Mutation_p.S40F|ATRNL1_uc010qsn.1_5'Flank NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 865 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCTTGTACATCTATGGCAAAT 0.433 NA 11 33 0 0 0 0 EIF3A 8661 broad.mit.edu 37 10 120801689 120801689 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:120801689C>T uc001ldu.2 - 19 3489 c.3343G>A c.(3343-3345)GAT>AAT p.D1115N EIF3A_uc010qsu.1_Missense_Mutation_p.D1081N|EIF3A_uc009xzg.1_Missense_Mutation_p.D154N NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1115 20.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCTCGATCATCATCCAACCCT 0.602 NA 25 131 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123844325 123844325 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr10:123844325G>C uc001lfv.2 + 4 2670 c.2310G>C c.(2308-2310)TCG>TCC p.S770S TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.S770S|TACC2_uc010qtv.1_Silent_p.S770S NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 770 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTGATGCGTCGAGACAGGAAT 0.607 NA 16 79 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 587351 587351 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:587351G>A uc001lqe.2 + 4 438 c.307G>A c.(307-309)GAT>AAT p.D103N PHRF1_uc010qwc.1_Missense_Mutation_p.D103N|PHRF1_uc010qwd.1_Missense_Mutation_p.D102N|PHRF1_uc010qwe.1_Missense_Mutation_p.D99N NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 103 RNA polymerase binding|zinc ion binding 0 CAATTCTGATGATGATGCAGA 0.557 NA 10 36 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 587453 587453 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:587453G>A uc001lqe.2 + 4 540 c.409G>A c.(409-411)GAA>AAA p.E137K PHRF1_uc010qwc.1_Missense_Mutation_p.E137K|PHRF1_uc010qwd.1_Missense_Mutation_p.E136K|PHRF1_uc010qwe.1_Missense_Mutation_p.E133K NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 137 RING-type; degenerate. RNA polymerase binding|zinc ion binding 0 CTGCATTGTCGAATGGTCCAA 0.562 NA 9 54 0 0 0 0 LRDD 55367 broad.mit.edu 37 11 801315 801315 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:801315C>G uc001lro.1 - 9 1675 c.1533G>C c.(1531-1533)GAG>GAC p.E511D LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E511D|LRDD_uc001lrl.1_Missense_Mutation_p.E365D|LRDD_uc001lrm.1_Missense_Mutation_p.E198D|LRDD_uc001lrn.1_Missense_Mutation_p.E365D|LRDD_uc001lrp.1_Missense_Mutation_p.E149D NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 511 ZU5 2. apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCACTGCAGCCTCTGGTTCTC 0.697 NA 5 14 0 0 0 0 TRPM5 29850 broad.mit.edu 37 11 2433448 2433448 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:2433448C>T uc001lwm.3 - 16 2400 c.2391G>A c.(2389-2391)AAG>AAA p.K797K TRPM5_uc010qxl.1_Silent_p.K797K|TRPM5_uc009ydn.2_Silent_p.K799K NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 797 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGTGAACTTCTTCACCAGGT 0.597 NA 29 104 0 0 0 0 RPS13 6207 broad.mit.edu 37 11 17098993 17098993 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:17098993G>C uc001mmp.2 - 2 87 c.55C>G c.(55-57)CGA>GGA p.R19G NM_001017 NP_001008 P62277 RS13_HUMAN ribosomal protein S13 19 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome 0 ACGCTGCGTCGATAGGGTAAA 0.632 NA 6 22 0 0 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564069 46564069 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:46564069G>A uc010rgu.1 - 7 1858 c.1498C>T c.(1498-1500)CAG>TAG p.Q500* AMBRA1_uc010rgt.1_Nonsense_Mutation_p.Q66*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q500*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q410*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q410*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q410*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q500* NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 500 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGGTCACACTGAAGCTCATGG 0.567 NA 15 67 0 0 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564092 46564092 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:46564092G>C uc010rgu.1 - 7 1835 c.1475C>G c.(1474-1476)TCG>TGG p.S492W AMBRA1_uc010rgt.1_Missense_Mutation_p.S58W|AMBRA1_uc009ylc.1_Missense_Mutation_p.S492W|AMBRA1_uc001ncu.1_Missense_Mutation_p.S402W|AMBRA1_uc001ncv.2_Missense_Mutation_p.S402W|AMBRA1_uc001ncw.2_Missense_Mutation_p.S402W|AMBRA1_uc001ncx.2_Missense_Mutation_p.S492W NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 492 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AATGCTGCCCGAGTTGTTTTG 0.562 NA 15 72 0 0 0 0 GIF 2694 broad.mit.edu 37 11 59604756 59604756 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:59604756G>C uc001noi.2 - 6 810 c.762C>G c.(760-762)CTC>CTG p.L254L NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 254 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 TAATCTCATTGAGTATCATAT 0.463 NA 13 53 0 0 0 0 MS4A6E 245802 broad.mit.edu 37 11 60107353 60107353 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:60107353G>C uc001npd.2 + 3 383 c.369G>C c.(367-369)CTG>CTC p.L123L NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 123 Helical; (Potential). integral to membrane receptor activity 0 CTCTGTCTCTGATGCTGGTTT 0.483 NA 27 173 0 0 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147398 65147398 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:65147398C>G uc001odp.1 - 3 515 c.93G>C c.(91-93)CAG>CAC p.Q31H SLC25A45_uc009yqi.1_Missense_Mutation_p.Q31H|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Missense_Mutation_p.Q31H|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b 31 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 TGGTCTGGGTCTGCAGCCTCA 0.632 NA 6 38 0 0 0 0 CTSW 1521 broad.mit.edu 37 11 65649791 65649791 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:65649791C>T uc001ogc.1 + 4 474 c.432C>T c.(430-432)ATC>ATT p.I144I CTSW_uc001ogb.1_Silent_p.I144I NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 144 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) TCTCACCCATCAAGGACCAGG 0.612 NA 10 45 0 0 0 0 CTSW 1521 broad.mit.edu 37 11 65650706 65650706 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:65650706C>G uc001ogc.1 + 9 873 c.831C>G c.(829-831)ATC>ATG p.I277M CTSW_uc001ogb.1_Missense_Mutation_p.I277M NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 277 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) AAGGTGTGATCAAGGCCACAC 0.617 NA 17 71 0 0 0 0 GPR152 390212 broad.mit.edu 37 11 67220094 67220094 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:67220094G>A uc001olm.2 - 1 107 c.102C>T c.(100-102)GTC>GTT p.V34V uc009yrw.1_RNA|CABP4_uc001oln.2_5'UTR|CABP4_uc001olo.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 34 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCACCAGGAAGACCGTGTCCC 0.667 NA 6 14 0 0 0 0 TBX10 347853 broad.mit.edu 37 11 67399081 67399081 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:67399081G>A uc001omp.2 - 8 1241 c.1153C>T c.(1153-1155)CAG>TAG p.Q385* NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank NM_005995 NP_005986 O75333 TBX10_HUMAN T-box 10 385 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TGGCATCACTGGGAGTCCTGG 0.672 NA 4 9 0 0 0 0 DNAJB13 374407 broad.mit.edu 37 11 73675980 73675980 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:73675980G>C uc001ouo.2 + 4 1143 c.392G>C c.(391-393)CGA>CCA p.R131P NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 131 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) CTCCAGGGCCGAGGGGTCAAG 0.498 NA OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 61 0 0 0 0 ME3 10873 broad.mit.edu 37 11 86153891 86153891 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:86153891C>T uc001pbz.2 - 13 1879 c.1625G>A c.(1624-1626)CGA>CAA p.R542Q ME3_uc001pca.2_Missense_Mutation_p.R542Q|ME3_uc009yvk.2_Missense_Mutation_p.R542Q NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 542 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AGACACGTCTCGGATGGTGCT 0.517 NA 12 68 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 100061931 100061931 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:100061931C>T uc001pga.2 + 14 1993 c.1654C>T c.(1654-1656)CGA>TGA p.R552* CNTN5_uc009ywv.1_Nonsense_Mutation_p.R552*|CNTN5_uc001pfz.2_Nonsense_Mutation_p.R552*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.R478*|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 552 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GTACGTTTGCCGAGGGGAAAA 0.393 NA 10 36 0 0 0 0 ATM 472 broad.mit.edu 37 11 108106437 108106437 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:108106437C>T uc001pkb.1 + 5 757 c.372C>T c.(370-372)ATC>ATT p.I124I ATM_uc009yxr.1_Silent_p.I124I NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 124 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TAAATTATATCATGGATACAG 0.313 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 15 42 0 0 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111636039 111636039 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:111636039C>T uc001plx.1 - 2 268 c.184G>A c.(184-186)GAA>AAA p.E62K PPP2R1B_uc001plw.1_Missense_Mutation_p.E62K|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.E62K|PPP2R1B_uc010rwl.1_Missense_Mutation_p.E62K NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 62 HEAT 2. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GGCAACAATTCACTTCGGGTC 0.363 NA 12 81 0 0 0 0 BCO2 83875 broad.mit.edu 37 11 112071361 112071361 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:112071361C>T uc001pnf.2 + 7 1008 c.891C>T c.(889-891)TTC>TTT p.F297F BCO2_uc001pne.1_Silent_p.F124F|BCO2_uc001png.2_Silent_p.F224F|BCO2_uc001pnh.2_Silent_p.F263F|BCO2_uc010rwt.1_Silent_p.F192F|BCO2_uc009yyn.2_Silent_p.F263F|BCO2_uc001pni.2_Silent_p.F263F NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 297 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ATATAATTTTCATTGAACAAC 0.383 NA 13 57 0 0 0 0 DDX6 1656 broad.mit.edu 37 11 118633977 118633977 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:118633977G>T uc001pub.2 - 7 1046 c.685C>A c.(685-687)CTT>ATT p.L229I DDX6_uc001puc.2_Missense_Mutation_p.L229I NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 229 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) TTCTTAATAAGATCCAGGATT 0.368 NA T IGH@ B-NHL 17 121 1.68e-08 1.78e-08 1 0 NTM 50863 broad.mit.edu 37 11 131781512 131781512 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr11:131781512C>T uc001qgp.2 + 1 801 c.137C>T c.(136-138)ACG>ATG p.T46M NTM_uc001qgm.2_Missense_Mutation_p.T46M|NTM_uc010sch.1_Missense_Mutation_p.T37M|NTM_uc010sci.1_Missense_Mutation_p.T46M|NTM_uc010scj.1_Missense_Mutation_p.T5M|NTM_uc001qgo.2_Missense_Mutation_p.T46M|NTM_uc001qgq.2_Missense_Mutation_p.T46M NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 46 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GACAACGTGACGGTCCGGCAG 0.617 NA OREG0021537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 84 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 996423 996423 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:996423C>T uc001qio.3 + 20 5824 c.5317C>T c.(5317-5319)CTA>TTA p.L1773L WNK1_uc001qip.3_Silent_p.L1526L|WNK1_uc001qir.3_Silent_p.L946L NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1773 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGCAGGTACTCTACCCAGCGA 0.483 NA 16 102 0 0 0 0 DYRK4 8798 broad.mit.edu 37 12 4721834 4721834 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:4721834C>T uc001qmx.2 + 12 1431 c.1271C>T c.(1270-1272)TCT>TTT p.S424F DYRK4_uc009zeh.1_Missense_Mutation_p.S539F|DYRK4_uc001qmy.1_Missense_Mutation_p.S424F|DYRK4_uc001qmz.1_Missense_Mutation_p.S138F|DYRK4_uc001qna.1_Missense_Mutation_p.S61F|DYRK4_uc010ser.1_Missense_Mutation_p.S61F NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 424 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) TTTTTCCCCTCTGAGACAAGG 0.522 NA 17 102 0 0 0 0 USP5 8078 broad.mit.edu 37 12 6966015 6966015 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:6966015G>A uc001qri.3 + 6 788 c.729G>A c.(727-729)CCG>CCA p.P243P USP5_uc001qrh.3_Silent_p.P243P NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 243 UBP-type. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 CAGGCTACCCGTTAGCTGTCA 0.537 NA 9 48 0 0 0 0 C1S 716 broad.mit.edu 37 12 7169796 7169796 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:7169796C>T uc001qsj.2 + 6 742 c.23C>T c.(22-24)TCA>TTA p.S8L C1S_uc001qsk.2_Missense_Mutation_p.S8L|C1S_uc001qsl.2_Missense_Mutation_p.S8L|C1S_uc009zfr.2_Intron|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 8 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GTCCTGTTTTCACTTTTGGCA 0.502 NA 9 69 0 0 0 0 TAS2R50 259296 broad.mit.edu 37 12 11138872 11138872 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:11138872C>T uc001qzl.2 - 1 640 c.588G>A c.(586-588)CTG>CTA p.L196L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 196 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 AGATTAGCATCAGAAAAGATA 0.408 NA 23 132 0 0 0 0 PRB3 5544 broad.mit.edu 37 12 11420963 11420963 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:11420963G>A uc001qzs.2 - 3 258 c.220C>T c.(220-222)CGT>TGT p.R74C PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 74 2.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTTCCTGGACGAGGTGGGGGA 0.627 NA 49 386 0 0 0 0 ETV6 2120 broad.mit.edu 37 12 12043951 12043951 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:12043951G>A uc001qzz.2 + 8 1604 c.1330G>A c.(1330-1332)GAA>AAA p.E444K ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 444 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GGAGCTGGATGAACAAATATA 0.527 NA T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 29 145 0 0 0 0 DUSP16 80824 broad.mit.edu 37 12 12629840 12629840 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:12629840G>A uc001rao.1 - 7 2557 c.1925C>T c.(1924-1926)TCA>TTA p.S642L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S494L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 642 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CTCTTCCCGTGACCTGTTCTC 0.498 NA 36 205 0 0 0 0 ERP27 121506 broad.mit.edu 37 12 15090892 15090892 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:15090892G>C uc001rco.2 - 2 210 c.189C>G c.(187-189)TTC>TTG p.F63L NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 63 Thioredoxin. endoplasmic reticulum lumen breast(1) 1 TAACCTGGAAGAAGCCTATGA 0.547 NA 15 118 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 22069956 22069956 + Nonsense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:22069956G>C uc001rfi.1 - 4 508 c.488C>G c.(487-489)TCA>TGA p.S163* ABCC9_uc001rfh.2_Nonsense_Mutation_p.S163*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.S163* NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 163 Extracellular (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACGCAGGTTTGATATGTCCAA 0.418 NA 33 187 0 0 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30876222 30876222 + Nonsense_Mutation SNP G G A rs79465544 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:30876222G>A uc001rji.1 - 11 2765 c.2014C>T c.(2014-2016)CAA>TAA p.Q672* CAPRIN2_uc001rjf.1_Nonsense_Mutation_p.Q469*|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q339*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q672*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q339*|CAPRIN2_uc001rjk.3_Nonsense_Mutation_p.Q672*|CAPRIN2_uc001rjl.3_Nonsense_Mutation_p.Q672*|CAPRIN2_uc001rjm.1_Nonsense_Mutation_p.Q339* NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 672 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AAATCACTTTGACTGGACAGA 0.358 NA 7 71 0 0 0 0 DNM1L 10059 broad.mit.edu 37 12 32873662 32873662 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:32873662C>G uc001rld.2 + 8 966 c.805C>G c.(805-807)CTT>GTT p.L269V DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Missense_Mutation_p.L269V|DNM1L_uc001rlf.2_Missense_Mutation_p.L269V|DNM1L_uc010skh.1_Missense_Mutation_p.L335V|DNM1L_uc001rlg.2_Missense_Mutation_p.L335V|DNM1L_uc001rlh.2_Missense_Mutation_p.L322V|DNM1L_uc010ski.1_Missense_Mutation_p.L66V NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 269 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GTATGCTTTTCTTCAAAAGAA 0.343 NA 11 61 0 0 0 0 ABCD2 225 broad.mit.edu 37 12 39967597 39967597 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:39967597C>T uc001rmb.2 - 9 2350 c.1924G>A c.(1924-1926)GAT>AAT p.D642N NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 642 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 CCTTCGACATCAATGCTGACA 0.353 NA 7 71 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846363 43846363 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:43846363G>A uc010skx.1 - 13 1896 c.1896C>T c.(1894-1896)ATC>ATT p.I632I NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 632 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GAATGCCACTGATGTCCAAAT 0.388 NA 7 36 0 0 0 0 HDAC7 51564 broad.mit.edu 37 12 48179624 48179624 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:48179624C>T uc010slo.1 - 23 2812 c.2617G>A c.(2617-2619)GCA>ACA p.A873T HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.A307T|HDAC7_uc001rqj.3_Missense_Mutation_p.A836T|HDAC7_uc001rqk.3_Missense_Mutation_p.A856T|HDAC7_uc010slp.1_Missense_Mutation_p.A117T NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 834 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) AGCACCACTGCGCCTCCTGCC 0.602 NA 7 37 0 0 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742881 49742881 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:49742881C>G uc001rua.2 + 2 627 c.226C>G c.(226-228)CTG>GTG p.L76V DNAJC22_uc001rub.2_Missense_Mutation_p.L76V NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 76 protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 GACACCCCCTCTGAGTCCCAT 0.557 NA 18 123 0 0 0 0 KCNH3 23416 broad.mit.edu 37 12 49944103 49944103 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:49944103G>A uc001ruh.1 + 10 2169 c.1909G>A c.(1909-1911)GCC>ACC p.A637T KCNH3_uc010smj.1_Missense_Mutation_p.A577T NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 637 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CACCGTGCTCGCCATCCTAGG 0.622 NA 10 56 0 0 0 0 TMBIM6 7009 broad.mit.edu 37 12 50152485 50152485 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:50152485G>A uc001rux.2 + 7 585 c.453G>A c.(451-453)CTG>CTA p.L151L TMBIM6_uc010sml.1_Intron|TMBIM6_uc001ruy.2_Silent_p.L209L|TMBIM6_uc001ruz.2_Silent_p.L151L NM_003217 NP_003208 P55061 BI1_HUMAN testis enhanced gene transcript (BAX inhibitor 151 Helical; (Potential). apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus 0 TGTCAGCCCTGAGCTTGTTGC 0.443 NA 21 79 0 0 0 0 TARBP2 6895 broad.mit.edu 37 12 53895890 53895890 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:53895890G>A uc001sdo.2 + 2 633 c.145G>A c.(145-147)GAC>AAC p.D49N MAP3K12_uc001sdm.1_5'Flank|MAP3K12_uc001sdn.1_5'Flank|TARBP2_uc009znb.2_Missense_Mutation_p.D49N|TARBP2_uc001sdp.2_Missense_Mutation_p.D28N|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_5'UTR|TARBP2_uc001sds.2_Missense_Mutation_p.D49N|TARBP2_uc001sdt.2_Missense_Mutation_p.D28N|TARBP2_uc001sdu.2_5'UTR|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 49 Sufficient for interaction with PRKRA.|DRBM 1. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 GCCTGTGTACGACCTTCTCAA 0.592 NA 13 55 0 0 0 0 STAT2 6773 broad.mit.edu 37 12 56737683 56737683 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:56737683C>T uc001slc.2 - 23 2417 c.2339G>A c.(2338-2340)GGA>GAA p.G780E STAT2_uc001slb.2_Missense_Mutation_p.G322E|STAT2_uc001sld.2_Missense_Mutation_p.G776E NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 780 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TGATACAGGTCCTTGGTCTGG 0.458 NA 7 159 0 0 0 0 SLC26A10 65012 broad.mit.edu 37 12 58019209 58019209 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:58019209G>A uc001spe.2 + 13 1801 c.1490G>A c.(1489-1491)CGA>CAA p.R497Q SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 497 STAS. integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) AGCCGATGTCGAGATGCTAGG 0.582 NA 8 36 0 0 0 0 THAP2 83591 broad.mit.edu 37 12 72068122 72068122 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:72068122C>A uc001swq.2 + 2 717 c.211C>A c.(211-213)CTT>ATT p.L71I NM_031435 NP_113623 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated 71 THAP-type. nucleolus DNA binding|metal ion binding ovary(1) 1 AACTCGACGACTTAAAATGGA 0.368 NA 15 69 2.32e-05 2.42e-05 1 0 TPH2 121278 broad.mit.edu 37 12 72335507 72335507 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:72335507C>G uc009zrw.1 + 2 390 c.249C>G c.(247-249)CTC>CTG p.L83L TPH2_uc001swy.2_5'UTR NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 83 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CACTGAGGCTCTTTCAGGTGA 0.403 NA 9 94 0 0 0 0 KCNC2 3747 broad.mit.edu 37 12 75437009 75437009 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:75437009G>A uc001sxg.1 - 5 2337 c.1793C>T c.(1792-1794)TCC>TTC p.S598F KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.S543F NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 598 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 TAAGCTTCGGGATTTTTCATA 0.433 NA 5 42 0 0 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336982 104336982 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:104336982C>G uc001tkb.1 + 13 1880 c.1775C>G c.(1774-1776)GCC>GGC p.A592G HSP90B1_uc010swg.1_Missense_Mutation_p.A257G|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 592 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) CAGAATGTTGCCAAGGAAGGA 0.418 NA 11 68 0 0 0 0 PWP1 11137 broad.mit.edu 37 12 108091362 108091362 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:108091362G>C uc001tmo.1 + 7 819 c.732G>C c.(730-732)AAG>AAC p.K244N PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.K244N NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 244 transcription, DNA-dependent nucleus 0 AGAAGAAAAAGAAAGGAAAGA 0.378 NA 11 24 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110252302 110252302 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:110252302C>T uc001tpj.1 - 1 395 c.300G>A c.(298-300)AAG>AAA p.K100K TRPV4_uc001tpg.1_Silent_p.K66K|TRPV4_uc001tph.1_Silent_p.K100K|TRPV4_uc001tpi.1_Silent_p.K100K|TRPV4_uc001tpk.1_Silent_p.K100K|TRPV4_uc001tpl.1_Silent_p.K100K NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 100 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TGGGTGCTTTCTTGGGCCCAG 0.552 NA 8 40 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111776184 111776184 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:111776184G>A uc001tsa.1 + 20 3444 c.3291G>A c.(3289-3291)CTG>CTA p.L1097L NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1097 CUT 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 AGCTGAGCCTGAAGGGGCGGG 0.592 NA 13 49 0 0 0 0 FBXO21 23014 broad.mit.edu 37 12 117627050 117627050 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:117627050C>G uc001twk.2 - 2 396 c.357G>C c.(355-357)AAG>AAC p.K119N FBXO21_uc001twj.2_Missense_Mutation_p.K119N|FBXO21_uc009zwq.2_Missense_Mutation_p.K119N NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 119 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) AAAAGAACCTCTTTGAGAACG 0.488 NA 13 85 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120204897 120204897 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:120204897C>G uc001txi.1 - 18 2225 c.2172G>C c.(2170-2172)AAG>AAC p.K724N CIT_uc001txh.1_Missense_Mutation_p.K258N|CIT_uc001txj.1_Missense_Mutation_p.K766N NM_007174 NP_009105 O14578 CTRO_HUMAN citron 724 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTACTTTAATCTTTTCCTCAT 0.488 NA 30 164 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123804454 123804454 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:123804454C>G uc010tap.1 - 19 2792 c.2792G>C c.(2791-2793)GGA>GCA p.G931A SBNO1_uc010tao.1_Missense_Mutation_p.G930A|SBNO1_uc010taq.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 931 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TACCTTATCTCCATCCATAAA 0.338 NA 6 41 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123805101 123805101 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:123805101C>T uc010tap.1 - 18 2545 c.2545G>A c.(2545-2547)GAA>AAA p.E849K SBNO1_uc010tao.1_Missense_Mutation_p.E848K|SBNO1_uc010taq.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 849 Potential. ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TGAGCCCTTTCCACAGCATCC 0.383 NA 30 118 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123810101 123810101 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:123810101C>T uc010tap.1 - 14 1921 c.1921G>A c.(1921-1923)GAA>AAA p.E641K SBNO1_uc010tao.1_Missense_Mutation_p.E640K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E641K|SBNO1_uc001ueu.2_Missense_Mutation_p.E640K|SBNO1_uc001uev.2_Missense_Mutation_p.E639K|SBNO1_uc009zxy.1_Missense_Mutation_p.E606K NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 641 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TCCAAAGCTTCTAATGTTCTA 0.343 NA 31 204 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558534 129558534 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:129558534C>A uc009zyl.1 - 9 3514 c.3186G>T c.(3184-3186)AGG>AGT p.R1062S TMEM132D_uc001uia.2_Missense_Mutation_p.R600S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 1062 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CGATGGAGTTCCTGGTGGGGT 0.517 NA 23 111 2.4e-15 2.57e-15 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184842 130184842 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:130184842C>T uc009zyl.1 - 2 809 c.481G>A c.(481-483)GCC>ACC p.A161T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 161 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCTCCCCGGCGCTGCGGTCG 0.642 NA 3 22 0 0 0 0 ULK1 8408 broad.mit.edu 37 12 132404537 132404537 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:132404537G>A uc001uje.2 + 26 3085 c.2817G>A c.(2815-2817)CTG>CTA p.L939L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 939 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGCGCAGGCTGAATGAGCTGT 0.647 NA 5 44 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132498089 132498089 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:132498089C>T uc001ujn.2 + 17 3701 c.3666C>T c.(3664-3666)CTC>CTT p.L1222L EP400_uc001ujl.2_Silent_p.L1221L|EP400_uc001ujm.2_Silent_p.L1222L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1258 Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCTGGAGCTCTGGACCATGG 0.572 NA 13 86 0 0 0 0 GOLGA3 2802 broad.mit.edu 37 12 133358996 133358996 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:133358996C>T uc001ukz.1 - 17 3910 c.3351G>A c.(3349-3351)GAG>GAA p.E1117E GOLGA3_uc001ula.1_Silent_p.E1117E NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1117 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTTCCCTTTCTCGTGCTCTA 0.493 NA 33 157 0 0 0 0 ATP12A 479 broad.mit.edu 37 13 25263408 25263408 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr13:25263408G>A uc001upp.2 + 5 628 c.441G>A c.(439-441)TTG>TTA p.L147L ATP12A_uc010aaa.2_Silent_p.L147L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 147 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGGTGTACTTGGGCTGTGTGC 0.532 NA 19 187 0 0 0 0 C13orf23 80209 broad.mit.edu 37 13 39588581 39588581 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr13:39588581G>C uc001uwy.2 - 11 1681 c.808C>G c.(808-810)CCT>GCT p.P270A C13orf23_uc001uwz.2_Missense_Mutation_p.P248A NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 270 Pro-rich. ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GAACCATGAGGAGAAAAGAGT 0.433 NA 5 31 0 0 0 0 FNDC3A 22862 broad.mit.edu 37 13 49771891 49771891 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr13:49771891G>A uc001vcm.2 + 21 2676 c.2371G>A c.(2371-2373)GAA>AAA p.E791K FNDC3A_uc001vcn.2_Missense_Mutation_p.E791K|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.E735K NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 791 Fibronectin type-III 6. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) AGATGTCACTGAATATCGACT 0.388 NA 21 73 0 0 0 0 RBM26 64062 broad.mit.edu 37 13 79952987 79952987 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr13:79952987C>G uc001vkz.2 - 2 141 c.127G>C c.(127-129)GAC>CAC p.D43H RBM26_uc001vky.2_Missense_Mutation_p.D43H|RBM26_uc001vla.2_Missense_Mutation_p.D43H|RBM26_uc001vlc.1_Missense_Mutation_p.D43H NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 43 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TCACTTTTGTCTTTCTTTACC 0.328 NA 4 27 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 34145537 34145537 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:34145537G>A uc001wru.2 + 6 743 c.679G>A c.(679-681)GAG>AAG p.E227K NPAS3_uc001wrs.2_Missense_Mutation_p.E214K|NPAS3_uc001wrt.2_Missense_Mutation_p.E195K|NPAS3_uc001wrv.2_Missense_Mutation_p.E197K|NPAS3_uc001wrw.2_Missense_Mutation_p.E125K NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GGGCACTGCTGAGGACGGAGC 0.617 NA 9 43 0 0 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36143457 36143457 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:36143457C>T uc001wti.2 - 23 3719 c.3328G>A c.(3328-3330)GAT>AAT p.D1110N RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1110N|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1123N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D1157N NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1110 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 GTCAGGTTATCAGTTGAAATG 0.318 NA 6 20 0 0 0 0 FANCM 57697 broad.mit.edu 37 14 45606317 45606317 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:45606317G>C uc001wwd.3 + 2 653 c.554G>C c.(553-555)AGA>ACA p.R185T FANCM_uc001wwc.2_Missense_Mutation_p.R185T|FANCM_uc010anf.2_Missense_Mutation_p.R185T|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 185 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TGCAGTAAGAGAGTGCTTTTT 0.373 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 8 63 0 0 0 0 FANCM 57697 broad.mit.edu 37 14 45644452 45644452 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:45644452C>G uc001wwd.3 + 14 2594 c.2495C>G c.(2494-2496)TCT>TGT p.S832C FANCM_uc010anf.2_Missense_Mutation_p.S806C|FANCM_uc001wwe.3_Missense_Mutation_p.S368C|FANCM_uc010ang.2_Missense_Mutation_p.S46C NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 832 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 GTGATAGAATCTGATGAAGAA 0.294 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 10 33 0 0 0 0 FANCM 57697 broad.mit.edu 37 14 45665674 45665674 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:45665674C>T uc001wwd.3 + 21 5739 c.5640C>T c.(5638-5640)TTC>TTT p.F1880F FANCM_uc010anf.2_Silent_p.F1854F|FANCM_uc001wwe.3_Silent_p.F1416F|FANCM_uc010ang.2_Silent_p.F1129F NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1880 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AGAACAAGTTCATTGAGCAGA 0.368 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 17 71 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51208379 51208379 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:51208379C>T uc001wym.2 - 25 5560 c.5369G>A c.(5368-5370)CGA>CAA p.R1790Q NIN_uc001wyi.2_Missense_Mutation_p.R1790Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R1077Q|NIN_uc010tqp.1_Missense_Mutation_p.R1796Q|NIN_uc001wyo.2_Missense_Mutation_p.R1790Q|NIN_uc001wyn.2_5'Flank NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1790 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CTGAGTCACTCGTAGGTCAGA 0.393 NA T PDGFRB MPD 28 144 0 0 0 0 CDKN3 1033 broad.mit.edu 37 14 54875501 54875501 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:54875501G>C uc001xap.2 + 4 301 c.187G>C c.(187-189)GAT>CAT p.D63H CDKN3_uc001xar.2_Missense_Mutation_p.D23H|CDKN3_uc001xaq.2_Missense_Mutation_p.D63H|CDKN3_uc010aoi.1_RNA|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron NM_005192 NP_005183 Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 isoform 1 63 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 TGTCCAAAAAGATACAGGTAG 0.279 NA 15 92 0 0 0 0 KIAA0586 9786 broad.mit.edu 37 14 58932685 58932685 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:58932685G>A uc001xdv.3 + 14 2237 c.1964G>A c.(1963-1965)AGA>AAA p.R655K KIAA0586_uc010trr.1_Missense_Mutation_p.R772K|KIAA0586_uc001xdt.3_Missense_Mutation_p.R687K|KIAA0586_uc001xdu.3_Missense_Mutation_p.R716K|KIAA0586_uc010trs.1_Missense_Mutation_p.R646K|KIAA0586_uc010trt.1_Missense_Mutation_p.R591K|KIAA0586_uc010tru.1_Missense_Mutation_p.R591K NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 655 ovary(1) 1 AGCCCAAGTAGAGAAATGCCT 0.358 NA 6 166 0 0 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65198093 65198093 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:65198093C>G uc001xho.1 + 8 1133 c.864C>G c.(862-864)CTC>CTG p.L288L PLEKHG3_uc001xhn.1_Silent_p.L232L|PLEKHG3_uc001xhp.2_Silent_p.L288L|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 288 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TTCAGTCACTCCTCATCAACT 0.602 NA 5 33 0 0 0 0 RBM25 58517 broad.mit.edu 37 14 73566393 73566393 + Nonsense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:73566393G>T uc001xno.2 + 9 1010 c.802G>T c.(802-804)GAA>TAA p.E268* RBM25_uc001xnn.3_Nonsense_Mutation_p.E268*|RBM25_uc010ttu.1_Nonsense_Mutation_p.E268*|RBM25_uc001xnp.2_Nonsense_Mutation_p.E63* NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 268 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AAATGCTATAGAAATGGAAGA 0.348 NA 18 90 1.5e-11 1.6e-11 1 0 HEATR4 399671 broad.mit.edu 37 14 73989358 73989358 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:73989358G>A uc010tub.1 - 3 821 c.499C>T c.(499-501)CAT>TAT p.H167Y HEATR4_uc010tua.1_Missense_Mutation_p.H120Y NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) ATGCAGGGATGATGGATGAGA 0.562 NA 9 46 0 0 0 0 NEK9 91754 broad.mit.edu 37 14 75568401 75568401 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:75568401C>T uc001xrl.2 - 15 1953 c.1799G>A c.(1798-1800)CGT>CAT p.R600H NEK9_uc001xrk.2_Missense_Mutation_p.R100H NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 600 RCC1 4. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) GGCAATGGTACGGATCTTATA 0.413 NA 17 146 0 0 0 0 ALKBH1 8846 broad.mit.edu 37 14 78146284 78146284 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:78146284C>T uc001xuc.1 - 4 494 c.485G>A c.(484-486)CGA>CAA p.R162Q ALKBH1_uc001xud.1_RNA NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 162 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CAGTAAACTTCGGGGTCTCCG 0.398 NA 15 94 0 0 0 0 FAM181A 90050 broad.mit.edu 37 14 94394757 94394757 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:94394757G>A uc001ybz.1 + 3 619 c.312G>A c.(310-312)CAG>CAA p.Q104Q C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.Q42Q|FAM181A_uc001yca.1_Silent_p.Q42Q NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 104 0 AGTACCTGCAGAAGCAGCTCA 0.632 NA 5 22 0 0 0 0 MTA1 9112 broad.mit.edu 37 14 105936499 105936499 + Missense_Mutation SNP C C T rs146041220 byFrequency TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr14:105936499C>T uc001yqx.2 + 21 2282 c.2095C>T c.(2095-2097)CGG>TGG p.R699W MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R464W|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 699 Poly-Pro.|SH3-binding (Potential). signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCTGCCGCCGCGGCCACCGCC 0.567 NA 5 17 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28413555 28413555 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:28413555C>G uc001zbj.2 - 67 10517 c.10411G>C c.(10411-10413)GAG>CAG p.E3471Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3471 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCTTTTACCTCTCTCTTTTCT 0.428 NA 25 125 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28459835 28459835 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:28459835G>A uc001zbj.2 - 40 6430 c.6324C>T c.(6322-6324)CTC>CTT p.L2108L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2108 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCAGGTAGTGAGCAAGCTTC 0.562 NA 5 22 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31323259 31323259 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:31323259C>T uc001zfm.2 - 22 3116 c.2988G>A c.(2986-2988)TGG>TGA p.W996* TRPM1_uc010azy.2_Nonsense_Mutation_p.W903*|TRPM1_uc001zfl.2_Intron NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 996 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGGCCAGTTTCCAAGAGGGCT 0.478 NA 12 99 0 0 0 0 FMN1 342184 broad.mit.edu 37 15 33359906 33359906 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:33359906G>A uc001zhf.3 - 1 180 c.180C>T c.(178-180)TTC>TTT p.F60F FMN1_uc001zhg.2_Silent_p.F60F NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTAAACTATGGAATGCTTTCA 0.453 NA 10 71 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34648777 34648777 + Silent SNP C C T rs137916466 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:34648777C>T uc001zif.2 + 7 2639 c.2484C>T c.(2482-2484)ACC>ACT p.T828T C15orf55_uc010ucc.1_Silent_p.T856T|C15orf55_uc010ucd.1_Silent_p.T846T NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 828 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GCTGTGAAACCGTAGGGCATC 0.507 NA T BRD3|BRD4 lethal midline carcinoma 11 60 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42110227 42110227 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:42110227G>C uc001zok.3 + 18 2229 c.1943G>C c.(1942-1944)GGA>GCA p.G648A MAPKBP1_uc001zoj.3_Missense_Mutation_p.G642A|MAPKBP1_uc010bcj.2_Missense_Mutation_p.G149A|MAPKBP1_uc010bci.2_Missense_Mutation_p.G642A|MAPKBP1_uc010udb.1_Missense_Mutation_p.G481A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.G149A NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 648 WD 10. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ATCAGCAGTGGAAAGCAGAAG 0.517 NA 28 140 0 0 0 0 TGM5 9333 broad.mit.edu 37 15 43552604 43552604 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:43552604C>G uc001zrd.1 - 2 192 c.184G>C c.(184-186)GAA>CAA p.E62Q TGM5_uc001zre.1_Missense_Mutation_p.E62Q NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 62 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TTACCAGTTTCAACCACGAAG 0.597 NA 5 49 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43814069 43814069 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:43814069G>C uc001zrt.2 + 4 865 c.398G>C c.(397-399)GGA>GCA p.G133A NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 133 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCTGAGCTTGGAGTTGTCTTT 0.557 NA 13 51 0 0 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827592 43827592 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:43827592G>A uc001zrw.2 - 31 3765 c.3582C>T c.(3580-3582)TTC>TTT p.F1194F PPIP5K1_uc001zrx.1_Silent_p.F1167F|PPIP5K1_uc001zru.2_Silent_p.F1169F|PPIP5K1_uc001zry.3_Silent_p.F1169F|PPIP5K1_uc001zrv.2_Intron NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 1194 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 GTTGATCACTGAAGCCAAATT 0.522 NA 16 85 0 0 0 0 DMXL2 23312 broad.mit.edu 37 15 51790872 51790872 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:51790872G>A uc002abf.2 - 18 4774 c.4549C>T c.(4549-4551)CAT>TAT p.H1517Y DMXL2_uc010ufy.1_Missense_Mutation_p.H1517Y|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1517 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TGCATAAGATGACTTGAAAGT 0.408 NA 19 46 0 0 0 0 THSD4 79875 broad.mit.edu 37 15 71535293 71535293 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:71535293C>T uc002atb.1 + 4 849 c.770C>T c.(769-771)TCA>TTA p.S257L THSD4_uc002atd.1_5'UTR NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 257 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 CCTGCAGCTTCAAGTCTCTTT 0.562 NA 17 64 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76496185 76496185 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:76496185C>G uc002bbq.2 + 11 1280 c.1125C>G c.(1123-1125)CTC>CTG p.L375L C15orf27_uc010bkp.2_Silent_p.L191L|C15orf27_uc002bbr.2_Silent_p.L191L|C15orf27_uc002bbs.2_Silent_p.L53L NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 375 integral to membrane 0 ACATGCCCCTCAAACTCGGCG 0.632 NA 23 103 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76496280 76496280 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:76496280C>T uc002bbq.2 + 11 1375 c.1220C>T c.(1219-1221)TCC>TTC p.S407F C15orf27_uc010bkp.2_Missense_Mutation_p.S223F|C15orf27_uc002bbr.2_Missense_Mutation_p.S223F|C15orf27_uc002bbs.2_Missense_Mutation_p.S85F NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 407 integral to membrane 0 ACGCTGGGCTCCTCCATGGAC 0.697 NA 9 30 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81575003 81575003 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:81575003G>A uc002bgh.3 + 9 1481 c.1105G>A c.(1105-1107)GGC>AGC p.G369S IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.G369S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G411S|IL16_uc002bgg.2_Missense_Mutation_p.G369S|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 369 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CCTGGGCATCGGCCTGTGCAG 0.642 NA 26 125 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85406114 85406114 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:85406114C>T uc002ble.2 + 10 5151 c.4984C>T c.(4984-4986)CTT>TTT p.L1662F ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1662 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGAGACTTCTCTTGTGGGCAG 0.557 NA 17 95 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85406847 85406847 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:85406847C>T uc002ble.2 + 11 5248 c.5081C>T c.(5080-5082)GCG>GTG p.A1694V ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1694 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCCGGGCCGCGCCTGGCTTT 0.557 NA 6 21 0 0 0 0 AEN 64782 broad.mit.edu 37 15 89173347 89173347 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:89173347G>A uc002bmt.2 + 4 951 c.800G>A c.(799-801)CGG>CAG p.R267Q AEN_uc010bnm.1_Missense_Mutation_p.R267Q NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 267 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 GAGCTCTACCGGCTGGTGGAG 0.607 NA 8 42 0 0 0 0 LINS1 55180 broad.mit.edu 37 15 101109585 101109585 + Missense_Mutation SNP C C T rs148450316 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:101109585C>T uc002bwe.2 - 8 2423 c.2132G>A c.(2131-2133)AGA>AAA p.R711K LINS1_uc002bwd.2_Missense_Mutation_p.R298K|LINS1_uc002bwf.2_Missense_Mutation_p.R711K|LINS1_uc002bwg.2_Missense_Mutation_p.R711K|LINS1_uc002bwh.2_Missense_Mutation_p.R711K NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 711 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TTTTACTATTCTGTAAAATAT 0.383 NA 24 124 0 0 0 0 OR4F6 390648 broad.mit.edu 37 15 102346152 102346152 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr15:102346152C>T uc010utr.1 + 1 230 c.230C>T c.(229-231)ACA>ATA p.T77I NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGTTCCTCCACAGCTCCCAAG 0.463 NA 49 253 0 0 0 0 SOLH 6650 broad.mit.edu 37 16 599044 599044 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:599044G>A uc002chi.2 + 5 1864 c.1501G>A c.(1501-1503)GGC>AGC p.G501S NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 501 Calpain catalytic. proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CGAGTCTGTCGGCTTCCCCGC 0.657 NA 31 90 0 0 0 0 BAIAP3 8938 broad.mit.edu 37 16 1398119 1398119 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:1398119C>T uc002clk.1 + 33 3277 c.3277C>T c.(3277-3279)CGC>TGC p.R1093C BAIAP3_uc002clj.2_Missense_Mutation_p.R1075C|BAIAP3_uc010uuz.1_Missense_Mutation_p.R1058C|BAIAP3_uc010uva.1_Missense_Mutation_p.R1030C|BAIAP3_uc010uvc.1_Missense_Mutation_p.R1022C NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 1093 C2 2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CGAGGCGTGCCGCCGCCGCGC 0.622 NA 7 33 0 0 0 0 C16orf42 115939 broad.mit.edu 37 16 1399439 1399439 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:1399439C>T uc002cll.2 - 6 1006 c.938G>A c.(937-939)TGA>TAA p.*313* BAIAP3_uc002clj.2_3'UTR|BAIAP3_uc010uuz.1_3'UTR|BAIAP3_uc010uva.1_3'UTR|BAIAP3_uc002clk.1_3'UTR|BAIAP3_uc010uvc.1_3'UTR|GNPTG_uc002clm.2_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN hypothetical protein LOC115939 313 rRNA processing 0 Hepatocellular(780;0.0893) CTGCAACCCTCAGTCTCTCTG 0.567 NA 39 322 0 0 0 0 C16orf42 115939 broad.mit.edu 37 16 1399524 1399524 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:1399524C>T uc002cll.2 - 6 921 c.853G>A c.(853-855)GAA>AAA p.E285K GNPTG_uc002clm.2_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN hypothetical protein LOC115939 285 rRNA processing 0 Hepatocellular(780;0.0893) TGCTCCTCTTCACAGCAGCTG 0.652 NA 36 214 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816351 1816351 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:1816351C>A uc002cmk.2 + 22 2877 c.2757C>A c.(2755-2757)CTC>CTA p.L919L MAPK8IP3_uc002cml.2_Silent_p.L913L|MAPK8IP3_uc010uvl.1_Silent_p.L920L NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 919 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCGGGCCTCTCACAGAGCACG 0.687 NA 6 38 3.6e-05 3.75e-05 1 0 SRRM2 23524 broad.mit.edu 37 16 2811883 2811883 + Nonsense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:2811883G>T uc002crk.2 + 11 1903 c.1354G>T c.(1354-1356)GAG>TAG p.E452* SRRM2_uc002crj.1_Nonsense_Mutation_p.E356*|SRRM2_uc002crl.1_Nonsense_Mutation_p.E452*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.E356* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 452 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GTCCCACCGAGAGATTTCTTC 0.547 NA 19 207 1.56e-12 1.67e-12 1 0 CREBBP 1387 broad.mit.edu 37 16 3830809 3830809 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:3830809G>A uc002cvv.2 - 8 1951 c.1747C>T c.(1747-1749)CCT>TCT p.P583S CREBBP_uc002cvw.2_Missense_Mutation_p.P545S NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 583 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGCTAGAAGGAGGAGCTGCT 0.483 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 7 49 0 0 0 0 SEPT12 124404 broad.mit.edu 37 16 4835884 4835884 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:4835884C>A uc002cxq.2 - 4 439 c.298G>T c.(298-300)GAG>TAG p.E100* SEPT12_uc002cxr.2_Nonsense_Mutation_p.E100*|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 100 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCCTTCTCCTCTATGACTGTG 0.438 NA 9 78 0.00621372 0.00632932 1 0 GRIN2A 2903 broad.mit.edu 37 16 9943615 9943615 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:9943615G>C uc002czo.3 - 5 1874 c.1326C>G c.(1324-1326)ATC>ATG p.I442M GRIN2A_uc010uym.1_Missense_Mutation_p.I442M|GRIN2A_uc010uyn.1_Missense_Mutation_p.I285M|GRIN2A_uc002czr.3_Missense_Mutation_p.I442M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 442 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCACTCACTTGATTTTGACGA 0.493 NA 13 59 0 0 0 0 ABCC6 368 broad.mit.edu 37 16 16286777 16286777 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:16286777G>A uc002den.3 - 11 1378 c.1341C>T c.(1339-1341)CTC>CTT p.L447L ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.L459L NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 447 ABC transmembrane type-1 1.|Helical; Name=8; (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGGGCCCCAGGAGCTGGGGAT 0.438 NA 14 59 0 0 0 0 ZP2 7783 broad.mit.edu 37 16 21213295 21213295 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:21213295G>A uc002dii.2 - 12 1337 c.1337C>T c.(1336-1338)ACG>ATG p.T446M ZP2_uc010bwn.1_Missense_Mutation_p.T485M NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 446 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) AGGAAAATCCGTCCAGAGAGC 0.363 NA 17 81 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24950751 24950751 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:24950751G>A uc002dnb.2 - 17 1751 c.1658C>T c.(1657-1659)TCT>TTT p.S553F ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Missense_Mutation_p.S77F|ARHGAP17_uc002dna.2_Missense_Mutation_p.S280F|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 553 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CCCACCCCCAGAGCTGCTTTC 0.687 NA 5 25 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27495572 27495572 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:27495572G>A uc002dov.1 - 25 4001 c.3961C>T c.(3961-3963)CGC>TGC p.R1321C GTF3C1_uc002dou.2_Missense_Mutation_p.R1321C NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1321 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ACTATGTAGCGAGCTCTTCGT 0.488 NA 25 54 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30537313 30537313 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:30537313C>T uc002dyk.3 - 2 324 c.148G>A c.(148-150)GAA>AAA p.E50K ZNF768_uc010vex.1_Missense_Mutation_p.E19K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E19K NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 50 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TCTTCgacttcatagtcccca 0.408 NA 23 162 0 0 0 0 GPR114 221188 broad.mit.edu 37 16 57597888 57597888 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:57597888C>G uc002elx.3 + 5 511 c.426C>G c.(424-426)TTC>TTG p.F142L GPR114_uc010vhr.1_Missense_Mutation_p.F142L|GPR114_uc002ely.2_Missense_Mutation_p.F142L NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 142 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 CCCACTTTTTCAAGGTCAGTG 0.637 NA 11 70 0 0 0 0 GPR114 221188 broad.mit.edu 37 16 57598964 57598964 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:57598964C>G uc002elx.3 + 6 533 c.448C>G c.(448-450)CTG>GTG p.L150V GPR114_uc010vhr.1_Missense_Mutation_p.L150V|GPR114_uc002ely.2_Missense_Mutation_p.L150V NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 150 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 CAACTCATCTCTGCTGAATAA 0.567 NA 9 72 0 0 0 0 SLC38A7 55238 broad.mit.edu 37 16 58704061 58704061 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:58704061G>A uc002eod.1 - 11 1635 c.1242C>T c.(1240-1242)CTC>CTT p.L414L SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Silent_p.L325L NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 414 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1) 1 TGGCTTGAATGAGGCACAGCC 0.557 NA 14 42 0 0 0 0 RLTPR 146206 broad.mit.edu 37 16 67680670 67680670 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:67680670C>T uc002etn.2 + 7 640 c.520C>T c.(520-522)CGA>TGA p.R174* RLTPR_uc010cel.1_Nonsense_Mutation_p.R174*|RLTPR_uc010vjr.1_Nonsense_Mutation_p.R174* NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 174 breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTTCCCTTTCCGAGAGGAGAT 0.582 NA 10 90 0 0 0 0 THAP11 57215 broad.mit.edu 37 16 67876995 67876995 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:67876995C>G uc002euo.2 + 1 783 c.538C>G c.(538-540)CCC>GCC p.P180A CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GCCCATCACTCCCACTGGAGA 0.647 NA 19 132 0 0 0 0 THAP11 57215 broad.mit.edu 37 16 67877127 67877127 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:67877127C>T uc002euo.2 + 1 915 c.670C>T c.(670-672)CCT>TCT p.P224S CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TGCCGAGTGCCCTATGGGCCC 0.657 NA 7 68 0 0 0 0 PSMB10 5699 broad.mit.edu 37 16 67969349 67969349 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:67969349C>T uc002eux.1 - 6 633 c.532G>A c.(532-534)GAA>AAA p.E178K NM_002801 NP_002792 P40306 PSB10_HUMAN proteasome beta 10 subunit proprotein 178 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) AACCGGTCTTCTAGCACCGCC 0.647 NA 19 65 0 0 0 0 PSMB10 5699 broad.mit.edu 37 16 67970194 67970194 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:67970194C>A uc002eux.1 - 3 267 c.166G>T c.(166-168)GAT>TAT p.D56Y NM_002801 NP_002792 P40306 PSB10_HUMAN proteasome beta 10 subunit proprotein 56 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) GCTCGCGTATCGGCGCCCAGA 0.632 NA 8 53 0.00307968 0.00314185 1 0 CDH3 1001 broad.mit.edu 37 16 68729708 68729708 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:68729708G>A uc002ewf.2 + 15 3294 c.2162G>A c.(2161-2163)GGT>GAT p.G721D CDH3_uc010vli.1_Missense_Mutation_p.G666D NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 721 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CTCCACCGAGGTCTGGAGGCC 0.602 NA 7 64 0 0 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188118 72188118 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:72188118C>G uc002fcc.3 - 4 578 c.406G>C c.(406-408)GAA>CAA p.E136Q PMFBP1_uc002fcd.2_Missense_Mutation_p.E136Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 136 ovary(2) 2 Ovarian(137;0.179) ACCTCATCTTCTTTCAGTTTG 0.463 NA 19 99 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81209259 81209259 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:81209259G>C uc002fgh.1 - 15 2534 c.2534C>G c.(2533-2535)TCT>TGT p.S845C PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.S160C|PKD1L2_uc002fgj.2_Missense_Mutation_p.S845C|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Missense_Mutation_p.S101C NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 845 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ATTGGTGGCAGAAATAACTAC 0.532 NA 14 61 0 0 0 0 SPG7 6687 broad.mit.edu 37 16 89597147 89597147 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:89597147C>T uc002fnj.2 + 7 939 c.918C>T c.(916-918)GTC>GTT p.V306V SPG7_uc002fni.2_Silent_p.V306V NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 306 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGAAAGGAGTCAGCTTCAAAG 0.517 NA 8 79 0 0 0 0 FANCA 2175 broad.mit.edu 37 16 89877208 89877208 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:89877208C>G uc002fou.1 - 5 471 c.429G>C c.(427-429)AAG>AAC p.K143N FANCA_uc010vpn.1_Missense_Mutation_p.K143N|FANCA_uc002fov.1_Missense_Mutation_p.K126N|FANCA_uc002fow.1_Missense_Mutation_p.K143N|FANCA_uc002fox.1_Missense_Mutation_p.K143N|FANCA_uc010ciu.1_Intron|FANCA_uc002foy.2_Missense_Mutation_p.K143N NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 143 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AAGACAGCTTCTTCTGAAAAG 0.348 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 20 105 0 0 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4457189 4457189 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:4457189C>G uc002fyb.3 - 5 539 c.477G>C c.(475-477)TCG>TCC p.S159S MYBBP1A_uc002fxz.3_Silent_p.S159S NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 159 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 GCAGCTTCACCGACTTCATCA 0.627 NA 4 19 0 0 0 0 SMTNL2 342527 broad.mit.edu 37 17 4510765 4510765 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:4510765C>T uc002fyf.1 + 8 1436 c.1369C>T c.(1369-1371)CTG>TTG p.L457L SMTNL2_uc002fye.2_Silent_p.L313L|uc002fyg.1_5'Flank NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 457 0 READ - Rectum adenocarcinoma(115;0.0325) GTACAACCACCTGCGTCGCTT 0.617 NA 22 94 0 0 0 0 MIS12 79003 broad.mit.edu 37 17 5392414 5392414 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:5392414C>G uc002gcd.2 + 2 561 c.232C>G c.(232-234)CTT>GTT p.L78V DERL2_uc002gcc.1_5'Flank|MIS12_uc002gce.2_Missense_Mutation_p.L78V NM_024039 NP_076944 Q9H081 MIS12_HUMAN MIS12 homolog 78 cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding 0 TTTTGATAACCTTTTTAGCAA 0.403 NA 12 45 0 0 0 0 MFSD6L 162387 broad.mit.edu 37 17 8700953 8700953 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:8700953G>A uc002glp.1 - 1 1634 c.1486C>T c.(1486-1488)CGA>TGA p.R496* NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 496 integral to membrane central_nervous_system(1) 1 AAGTGGCCTCGGAACAAGGCA 0.612 NA 9 32 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 15965063 15965063 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:15965063C>T uc002gpo.2 - 37 5773 c.5533G>A c.(5533-5535)GAA>AAA p.E1845K NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpm.2_Missense_Mutation_p.E365K|NCOR1_uc010vwb.1_Missense_Mutation_p.E429K|NCOR1_uc010coy.2_Missense_Mutation_p.E753K|NCOR1_uc010vwc.1_Missense_Mutation_p.E655K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1845 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGCAGCTTCATGCTTACTC 0.507 NA 24 113 0 0 0 0 PEMT 10400 broad.mit.edu 37 17 17409126 17409126 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:17409126G>A uc002grj.2 - 7 646 c.579C>T c.(577-579)TCC>TCT p.S193S PEMT_uc002grk.2_Silent_p.S193S|PEMT_uc002grl.2_Silent_p.S230S|PEMT_uc010vwx.1_3'UTR NM_148173 NP_680478 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 193 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity 0 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) TGTGGGACCCGGAGGCTTTCT 0.672 NA 4 22 0 0 0 0 NLK 51701 broad.mit.edu 37 17 26518200 26518200 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:26518200G>A uc010crj.2 + 9 1602 c.1390G>A c.(1390-1392)GAT>AAT p.D464N NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 464 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCCCAAATTTGATGACACTTT 0.428 NA 10 57 0 0 0 0 KIAA0100 9703 broad.mit.edu 37 17 26943185 26943185 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:26943185C>T uc002hbu.2 - 37 6418 c.6319G>A c.(6319-6321)GAG>AAG p.E2107K SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.E436K NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2107 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCAGCTCGCTCTTTCATCTTG 0.483 NA 4 56 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29161435 29161435 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29161435G>C uc002hfs.1 + 2 682 c.336G>C c.(334-336)AAG>AAC p.K112N ATAD5_uc002hft.1_Missense_Mutation_p.K9N NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 112 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGTTTAAGAAGAAAAGAAAGA 0.338 NA 15 136 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29161585 29161585 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29161585G>C uc002hfs.1 + 2 832 c.486G>C c.(484-486)AAG>AAC p.K162N ATAD5_uc002hft.1_Missense_Mutation_p.K59N NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 162 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TACGTTACAAGAAACAAGTAG 0.313 NA 16 197 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29161714 29161714 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29161714G>C uc002hfs.1 + 2 961 c.615G>C c.(613-615)TTG>TTC p.L205F ATAD5_uc002hft.1_Missense_Mutation_p.L102F NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 205 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCAAAAAGTTGAGAAAAAGGA 0.328 NA 23 141 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29161793 29161793 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29161793G>C uc002hfs.1 + 2 1040 c.694G>C c.(694-696)GAT>CAT p.D232H ATAD5_uc002hft.1_Missense_Mutation_p.D129H NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 232 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GCTTAAAAAAGATGGTAAAGA 0.338 NA 16 126 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162131 29162131 + Silent SNP G G A rs111343309 by1000genomes TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29162131G>A uc002hfs.1 + 2 1378 c.1032G>A c.(1030-1032)TTG>TTA p.L344L ATAD5_uc002hft.1_Silent_p.L241L NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 344 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAATTTTCTTGAAACAAAAGC 0.378 NA 9 42 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162199 29162199 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29162199G>C uc002hfs.1 + 2 1446 c.1100G>C c.(1099-1101)AGA>ACA p.R367T ATAD5_uc002hft.1_Missense_Mutation_p.R264T NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 367 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTTCAGAAAAGAAAATCTAAT 0.343 NA 11 50 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162272 29162272 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29162272G>A uc002hfs.1 + 2 1519 c.1173G>A c.(1171-1173)GTG>GTA p.V391V ATAD5_uc002hft.1_Silent_p.V288V NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 391 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTGAAGCTGTGAAACCAAAAT 0.363 NA 15 72 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162420 29162420 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29162420G>A uc002hfs.1 + 2 1667 c.1321G>A c.(1321-1323)GAT>AAT p.D441N ATAD5_uc002hft.1_Missense_Mutation_p.D338N NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 441 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGGAAGAGATGATAATTCTAA 0.323 NA 10 63 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162726 29162726 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29162726G>A uc002hfs.1 + 2 1973 c.1627G>A c.(1627-1629)GAT>AAT p.D543N ATAD5_uc002hft.1_Missense_Mutation_p.D440N NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 543 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TGTTTATGAAGATATAGCAAA 0.289 NA 20 70 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29164285 29164285 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:29164285G>A uc002hfs.1 + 3 2375 c.2029G>A c.(2029-2031)GAG>AAG p.E677K ATAD5_uc002hft.1_Missense_Mutation_p.E574K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 677 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) caaaagatctgagaaaTCTGA 0.249 NA 11 51 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349317 30349317 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:30349317G>A uc002hgu.2 + 1 1163 c.1152G>A c.(1150-1152)CTG>CTA p.L384L LRRC37B_uc010wbx.1_Silent_p.L302L|LRRC37B_uc010csu.2_Silent_p.L384L NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 384 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CTACAGCCCTGAGGACTACAG 0.542 NA 33 193 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376174 30376174 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:30376174G>A uc002hgu.2 + 10 2448 c.2437G>A c.(2437-2439)GAG>AAG p.E813K LRRC37B_uc010wbx.1_Missense_Mutation_p.E731K|LRRC37B_uc010csu.2_Missense_Mutation_p.E762K NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 813 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CATCCCCAACGAGGATGTGAG 0.498 NA 22 105 0 0 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704795 36704795 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:36704795C>G uc002hqd.2 - 17 3493 c.3268G>C c.(3268-3270)GAG>CAG p.E1090Q SRCIN1_uc002hqf.1_Missense_Mutation_p.E962Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.E944Q NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 962 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 TGACCTACCTCTAGCTCTGCG 0.662 NA 11 58 0 0 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704826 36704826 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:36704826C>T uc002hqd.2 - 17 3462 c.3237G>A c.(3235-3237)GAG>GAA p.E1079E SRCIN1_uc002hqf.1_Silent_p.E951E|SRCIN1_uc002hqe.2_Silent_p.E933E NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 951 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CCTCGTCATCCTCGTCCTTGA 0.667 NA 11 59 0 0 0 0 MLLT6 4302 broad.mit.edu 37 17 36876644 36876644 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:36876644G>C uc002hqi.3 + 15 2188 c.2175G>C c.(2173-2175)GCG>GCC p.A725A MLLT6_uc002hqj.2_Silent_p.A160A|MLLT6_uc002hqk.3_Silent_p.A56A NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 725 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) TGCTGAAGGCGCTGCACGCGC 0.433 NA T MLL AL 4 24 0 0 0 0 PNMT 5409 broad.mit.edu 37 17 37826388 37826388 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:37826388G>C uc002hsi.1 + 3 817 c.595G>C c.(595-597)GAC>CAC p.D199H NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 199 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCGGGCCCTGGACCACATCAC 0.682 NA 6 40 0 0 0 0 GRB7 2886 broad.mit.edu 37 17 37900456 37900456 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:37900456C>A uc002hsr.2 + 7 1047 c.797C>A c.(796-798)TCT>TAT p.S266Y GRB7_uc002hss.2_Missense_Mutation_p.S266Y|GRB7_uc010cwc.2_Missense_Mutation_p.S266Y|GRB7_uc002hst.2_Missense_Mutation_p.S266Y NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 266 PH. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AAGGGCACCTCTAAGGTAAGG 0.572 NA 17 186 5.04e-11 5.37e-11 1 0 RAPGEFL1 51195 broad.mit.edu 37 17 38348898 38348898 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:38348898C>A uc010cwu.1 + 12 1569 c.1079C>A c.(1078-1080)TCC>TAC p.S360Y RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S296Y NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 566 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAAGTGATCTCCAAAATGAAG 0.527 NA 38 233 4.67e-22 5.02e-22 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:39274291T>C uc002hvz.2 - 1 316 c.277A>G c.(277-279)ATG>GTG p.M93V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 14.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.388 NA 6 37 0 0 0 0 CCDC56 28958 broad.mit.edu 37 17 40948652 40948652 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:40948652C>T uc010wgz.1 - 2 350 c.73G>A c.(73-75)GAA>AAA p.E25K WNK4_uc002ibj.2_Intron|WNK4_uc010wgx.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank Q9Y2R0 CCD56_HUMAN SubName: Full=cDNA FLJ50764; Error:Variant_position_missing_in_Q9Y2R0_after_alignment integral to membrane 0 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0741) GCTGCAGCTTCGCCTTCCTCC 0.587 NA 16 69 0 0 0 0 TMEM101 84336 broad.mit.edu 37 17 42092252 42092252 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:42092252G>A uc002ieu.2 - 1 94 c.69C>T c.(67-69)CTC>CTT p.L23L TMEM101_uc010wis.1_Intron NM_032376 NP_115752 Q96IK0 TM101_HUMAN transmembrane protein 101 23 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) GGCAGCGTGTGAGCAGCACCG 0.627 NA 22 63 0 0 0 0 G6PC3 92579 broad.mit.edu 37 17 42153206 42153206 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:42153206G>A uc002iex.2 + 6 1052 c.836G>A c.(835-837)GGA>GAA p.G279E G6PC3_uc002iey.2_Missense_Mutation_p.G154E|G6PC3_uc010czo.2_Missense_Mutation_p.G135E|G6PC3_uc002iez.2_Missense_Mutation_p.G154E|G6PC3_uc002ifb.2_Missense_Mutation_p.G154E|G6PC3_uc002ifc.2_Missense_Mutation_p.G88E NM_138387 NP_612396 Q9BUM1 G6PC3_HUMAN glucose-6-phosphatase catalytic subunit 3 279 Cytoplasmic (Potential). gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity skin(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) GCACAGCTGGGAAATGGCCAG 0.652 NA 12 52 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43171126 43171126 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:43171126C>G uc002ihz.2 + 4 477 c.459C>G c.(457-459)CCC>CCG p.P153P NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 153 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) ACACCCTGCCCCAGGGCTTCA 0.597 NA 9 54 0 0 0 0 COPZ2 51226 broad.mit.edu 37 17 46111232 46111232 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:46111232C>T uc002imy.2 - 7 278 c.265G>A c.(265-267)GAG>AAG p.E89K NM_016429 NP_057513 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 89 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat 0 CACTTACTCTCAGTCCGGCTG 0.483 NA 3 20 0 0 0 0 HOXB8 3218 broad.mit.edu 37 17 46690757 46690757 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:46690757G>C uc002inw.2 - 2 774 c.539C>G c.(538-540)TCG>TGG p.S180W HOXB7_uc002inv.2_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 180 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGGGCGTGCGATACCTCGAT 0.532 NA 11 93 0 0 0 0 MYST2 11143 broad.mit.edu 37 17 47886529 47886529 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:47886529C>G uc002ipm.2 + 6 838 c.712C>G c.(712-714)CAC>GAC p.H238D MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Missense_Mutation_p.H99D|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Missense_Mutation_p.H82D|MYST2_uc010wme.1_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 238 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GATGCTGTCTCACAGGCAAGA 0.478 NA 10 49 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58282903 58282903 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:58282903C>T uc002iyo.1 - 26 3440 c.3154G>A c.(3154-3156)GAG>AAG p.E1052K USP32_uc002iyn.1_Missense_Mutation_p.E722K NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1052 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AAGTTCTTCTCAGTTCCACAT 0.443 NA 11 78 0 0 0 0 TLK2 11011 broad.mit.edu 37 17 60598187 60598187 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:60598187G>C uc010ddp.2 + 3 403 c.135G>C c.(133-135)TTG>TTC p.L45F TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.L45F|TLK2_uc002jaa.3_Missense_Mutation_p.L45F|TLK2_uc010wpd.1_Missense_Mutation_p.L45F NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 45 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 TCGGATCCTTGAGTGATAAAG 0.299 NA 12 79 0 0 0 0 LIMD2 80774 broad.mit.edu 37 17 61776232 61776232 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:61776232C>T uc002jbj.3 - 4 329 c.151G>A c.(151-153)GAG>AAG p.E51K LIMD2_uc002jbk.3_Missense_Mutation_p.G52E|LIMD2_uc002jbl.3_Missense_Mutation_p.E51K NM_030576 NP_085053 Q9BT23 LIMD2_HUMAN LIM domain containing 2 51 LIM zinc-binding. zinc ion binding 0 ACCAGCCGCTCCATGGGGTAC 0.562 NA 12 74 0 0 0 0 PRKCA 5578 broad.mit.edu 37 17 64683318 64683318 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:64683318G>A uc002jfp.1 + 6 663 c.619G>A c.(619-621)GAA>AAA p.E207K PRKCA_uc002jfo.1_Missense_Mutation_p.E78K NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 207 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TCCCAAGAATGAAAGCAAGCA 0.408 NA 27 127 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65147302 65147302 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:65147302G>A uc010wqk.1 - 18 2406 c.2219C>T c.(2218-2220)CCA>CTA p.P740L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P739L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ATGCACAACTGGGTGGACAGT 0.373 NA 21 87 0 0 0 0 KPNA2 3838 broad.mit.edu 37 17 66039309 66039309 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:66039309C>T uc002jgk.2 + 7 892 c.760C>T c.(760-762)CCT>TCT p.P254S KPNA2_uc002jgl.2_Missense_Mutation_p.P254S NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 254 ARM 5. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCAGATTCTTCCTACCTTAGT 0.468 NA 49 291 0 0 0 0 KPNA2 3838 broad.mit.edu 37 17 66042035 66042035 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:66042035G>A uc002jgk.2 + 10 1627 c.1495G>A c.(1495-1497)GAG>AAG p.E499K KPNA2_uc002jgl.2_Missense_Mutation_p.E499K NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 499 Poly-Glu. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTCTCTGTAGAGGTGAGTAA 0.328 NA 23 102 0 0 0 0 GGA3 23163 broad.mit.edu 37 17 73237033 73237033 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:73237033G>A uc002jni.1 - 11 1061 c.1052C>T c.(1051-1053)TCA>TTA p.S351L GGA3_uc002jnj.1_Missense_Mutation_p.S318L|GGA3_uc010wrw.1_Missense_Mutation_p.S229L|GGA3_uc002jnk.1_Missense_Mutation_p.S279L|GGA3_uc010wrx.1_Missense_Mutation_p.S229L|GGA3_uc010wry.1_Missense_Mutation_p.S279L NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 351 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TGGGATGCCTGAGGAGGGTGG 0.647 NA OREG0024730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 56 0 0 0 0 TRIM65 201292 broad.mit.edu 37 17 73887415 73887415 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:73887415C>T uc002jpx.2 - 6 1035 c.999G>A c.(997-999)CTG>CTA p.L333L NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 333 B30.2/SPRY. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GATCAAAGGTCAGATTGCGAT 0.498 NA 8 19 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045388 76045388 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:76045388G>A uc002jud.2 + 4 845 c.245G>A c.(244-246)AGA>AAA p.R82K TNRC6C_uc002juf.2_Missense_Mutation_p.R82K|TNRC6C_uc002jue.2_Missense_Mutation_p.R82K NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 82 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGAGATGGGAGAAGTCAGAAT 0.522 NA 15 79 0 0 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76967746 76967746 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:76967746G>A uc002jwh.2 - 6 1849 c.1670C>T c.(1669-1671)TCC>TTC p.S557F LGALS3BP_uc002jwi.2_Missense_Mutation_p.S363F|LGALS3BP_uc010dhr.2_Missense_Mutation_p.S363F NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein 557 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GGGGAAGGAGGAGGTGCTCTT 0.632 NA OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 55 0 0 0 0 CARD14 79092 broad.mit.edu 37 17 78156549 78156549 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:78156549C>T uc002jxw.1 + 3 504 c.309C>T c.(307-309)GTC>GTT p.V103V CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.V103V|CARD14_uc010wud.1_5'Flank NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 103 CARD. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) ACACCCTGGTCACCGGGCTGC 0.557 NA 8 35 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78320513 78320513 + Nonsense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:78320513C>G uc002jyh.1 + 4 2820 c.2597C>G c.(2596-2598)TCA>TGA p.S866* NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCTGCCTACTCAGATCTCTTC 0.642 NA 4 11 0 0 0 0 FN3KRP 79672 broad.mit.edu 37 17 80674690 80674690 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:80674690C>A uc002kfu.2 + 1 109 c.59C>A c.(58-60)TCG>TAG p.S20* FN3KRP_uc010wvr.1_5'UTR NM_024619 NP_078895 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 20 kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ACGGGCCACTCGGGGGGCGGG 0.706 NA 5 19 0.00116845 0.00119389 1 0 ZNF750 79755 broad.mit.edu 37 17 80788498 80788498 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:80788498C>T uc002kga.2 - 3 2003 c.1692G>A c.(1690-1692)CCG>CCA p.P564P TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 564 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) AGGCAGGCCTCGGAGCCTGGG 0.627 NA 14 57 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80789280 80789280 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:80789280C>T uc002kga.2 - 2 1362 c.1051G>A c.(1051-1053)GAA>AAA p.E351K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 351 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) GTGGCTTCTTCAAGCAGGTGA 0.532 NA 32 129 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80790150 80790150 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr17:80790150G>A uc002kga.2 - 2 492 c.181C>T c.(181-183)CGA>TGA p.R61* TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 61 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) TTGGGAACTCGATCCTGCTCT 0.448 NA 15 63 0 0 0 0 CLUL1 27098 broad.mit.edu 37 18 627346 627346 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:627346G>A uc002kkp.2 + 5 818 c.673G>A c.(673-675)GAG>AAG p.E225K CLUL1_uc010wys.1_Missense_Mutation_p.E277K|CLUL1_uc002kkq.2_Missense_Mutation_p.E225K NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 225 cell death extracellular region ovary(2) 2 AGACCTAACTGAGCCTTACTT 0.388 NA 16 115 0 0 0 0 KIAA0802 23255 broad.mit.edu 37 18 8796233 8796233 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:8796233G>C uc002knr.2 + 9 2156 c.2014G>C c.(2014-2016)GAG>CAG p.E672Q KIAA0802_uc002knq.2_Missense_Mutation_p.E631Q|KIAA0802_uc002kns.2_Missense_Mutation_p.E2Q NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 982 0 ATTCAAGATGGAGGAGGAGCA 0.498 NA 10 87 0 0 0 0 KIAA0802 23255 broad.mit.edu 37 18 8796331 8796331 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:8796331G>C uc002knr.2 + 9 2254 c.2112G>C c.(2110-2112)AAG>AAC p.K704N KIAA0802_uc002knq.2_Missense_Mutation_p.K663N|KIAA0802_uc002kns.2_Missense_Mutation_p.K34N NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1014 0 GTGATGAGAAGAATCTGATGC 0.522 NA 12 80 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31324832 31324832 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:31324832G>A uc010dmg.1 + 12 5075 c.5020G>A c.(5020-5022)GAA>AAA p.E1674K ASXL3_uc002kxq.2_Missense_Mutation_p.E1381K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGAACTTCACGAAGCAGACAA 0.478 NA 12 63 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31325319 31325319 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:31325319G>A uc010dmg.1 + 12 5562 c.5507G>A c.(5506-5508)GGA>GAA p.G1836E ASXL3_uc002kxq.2_Missense_Mutation_p.G1543E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGGACTGTAGGAGAACACACT 0.483 NA 44 210 0 0 0 0 SLC39A6 25800 broad.mit.edu 37 18 33689584 33689584 + Missense_Mutation SNP T T A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:33689584T>A uc010dmy.2 - 10 2530 c.2240A>T c.(2239-2241)CAT>CTT p.H747L NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 747 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 CACGATTTTATGTTCAAATAT 0.353 NA 21 118 0 0 0 0 CCBE1 147372 broad.mit.edu 37 18 57363888 57363888 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr18:57363888G>C uc002lib.2 - 2 255 c.185C>G c.(184-186)TCT>TGT p.S62C NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 62 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) CTCGCCTGAAGACTTCAGACA 0.572 NA OREG0025022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 117 0 0 0 0 ZNF554 115196 broad.mit.edu 37 19 2834250 2834250 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:2834250G>C uc002lwm.2 + 5 1215 c.1017G>C c.(1015-1017)TTG>TTC p.L339F ZNF554_uc002lwl.2_Missense_Mutation_p.L288F NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 339 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCATTCTTTGAGCGAACATC 0.537 NA 9 66 0 0 0 0 ZNF554 115196 broad.mit.edu 37 19 2834551 2834551 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:2834551G>A uc002lwm.2 + 5 1516 c.1318G>A c.(1318-1320)GAA>AAA p.E440K ZNF554_uc002lwl.2_Missense_Mutation_p.E389K NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 440 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAATGCAGTGAATGTGGAAA 0.522 NA 8 40 0 0 0 0 UHRF1 29128 broad.mit.edu 37 19 4929378 4929378 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:4929378G>C uc002mbo.2 + 3 466 c.298G>C c.(298-300)GGC>CGC p.G100R UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.G113R NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 100 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CTGCTGCCTGGGCCAGAGTGA 0.657 NA 6 26 0 0 0 0 TRIP10 9322 broad.mit.edu 37 19 6741022 6741022 + Missense_Mutation SNP A A T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:6741022A>T uc002mfs.2 + 2 92 c.26A>T c.(25-27)GAT>GTT p.D9V TRIP10_uc010dux.1_Missense_Mutation_p.D9V|TRIP10_uc002mfr.2_Missense_Mutation_p.D9V|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 9 FCH.|Required for podosome formation and interaction with AKAP9 and microtubules.|Induction of membrane tubulation.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 CCATGTCAGGATCAGTTCGAG 0.617 NA 7 44 0 0 0 0 RDH8 50700 broad.mit.edu 37 19 10132365 10132365 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:10132365C>G uc002mmr.2 + 6 1125 c.876C>G c.(874-876)CTC>CTG p.L292L NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 292 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CACGCCTCCTCAACCTTGGCC 0.612 NA 6 37 0 0 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204253 10204253 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:10204253C>T uc002mmx.1 - 5 1112 c.994G>A c.(994-996)GAA>AAA p.E332K ANGPTL6_uc002mmy.1_Missense_Mutation_p.E332K NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 332 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) TACACGGGTTCAAGGCCCAGC 0.642 NA 7 20 0 0 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204273 10204273 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:10204273C>T uc002mmx.1 - 5 1092 c.974G>A c.(973-975)GGA>GAA p.G325E ANGPTL6_uc002mmy.1_Missense_Mutation_p.G325E NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 325 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) CCAGTATTCTCCGTCTGGCCG 0.647 NA 6 20 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220614 10220614 + Missense_Mutation SNP G G A rs149200523 byFrequency TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:10220614G>A uc002mna.2 + 7 616 c.616G>A c.(616-618)GCG>ACG p.A206T PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.A206T|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.A206T|PPAN_uc002mnb.1_Missense_Mutation_p.A153T NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 206 Brix. RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TCCTGTGGGCGCGAGTCGCGG 0.627 NA 8 107 0 0 0 0 ZNF627 199692 broad.mit.edu 37 19 11725686 11725686 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:11725686C>T uc002msk.2 + 3 383 c.175C>T c.(175-177)CCC>TCC p.P59S ZNF627_uc010dyf.2_5'UTR NM_145295 NP_660338 Q7L945 ZN627_HUMAN zinc finger protein 627 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATTCAAAATTCCCAGGAGAAA 0.279 NA 3 21 0 0 0 0 ZNF563 147837 broad.mit.edu 37 19 12429881 12429881 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:12429881G>A uc002mtp.2 - 4 1196 c.958C>T c.(958-960)CAT>TAT p.H320Y NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 320 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCCAAGATGATGAAATGTT 0.438 NA 23 134 0 0 0 0 C19orf44 84167 broad.mit.edu 37 19 16611792 16611792 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:16611792C>G uc002neh.1 + 2 262 c.189C>G c.(187-189)CTC>CTG p.L63L MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.L63L|C19orf44_uc002neg.2_Silent_p.L63L|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 63 0 AACACTTACTCCTGAAAGAGA 0.478 NA 26 192 0 0 0 0 NWD1 284434 broad.mit.edu 37 19 16875993 16875993 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:16875993C>A uc002neu.3 + 10 2822 c.2400C>A c.(2398-2400)CTC>CTA p.L800L NWD1_uc002net.3_Silent_p.L665L|NWD1_uc002nev.3_Silent_p.L594L Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 800 ATP binding skin(3)|ovary(2)|pancreas(2) 7 CTGTGGAGCTCCGAGGCATGG 0.587 NA 5 25 0.000602214 0.000618211 1 0 GLT25D1 79709 broad.mit.edu 37 19 17691701 17691701 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:17691701G>A uc002nhc.1 + 11 1600 c.1588G>A c.(1588-1590)GAC>AAC p.D530N GLT25D1_uc010eax.1_Missense_Mutation_p.D258N|GLT25D1_uc010eay.1_Missense_Mutation_p.D59N NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 530 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 CGTCATGTTCGACAAACACCC 0.632 NA 6 35 0 0 0 0 FCHO1 23149 broad.mit.edu 37 19 17875220 17875220 + Silent SNP G G A rs148025294 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:17875220G>A uc010ebb.2 + 5 345 c.156G>A c.(154-156)GCG>GCA p.A52A FCHO1_uc002nhg.3_Silent_p.A52A|FCHO1_uc002nhh.2_Silent_p.A52A|FCHO1_uc010xpw.1_Silent_p.A2A|FCHO1_uc010ebc.1_Silent_p.A59A NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 52 FCH. breast(1) 1 AGGCGATGGCGAAACTCTCCA 0.512 NA 9 38 0 0 0 0 GDF15 9518 broad.mit.edu 37 19 18497038 18497038 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:18497038G>C uc002niv.2 + 1 71 c.39G>C c.(37-39)CAG>CAC p.Q13H hsa-mir-3189|MI0014233_5'Flank NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 13 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 ATGGCTCTCAGATGCTCCTGG 0.647 NA 5 39 0 0 0 0 ZNF682 91120 broad.mit.edu 37 19 20117110 20117110 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:20117110C>T uc002noq.2 - 4 1324 c.1201G>A c.(1201-1203)GAA>AAA p.E401K ZNF682_uc002noo.2_Missense_Mutation_p.E369K|ZNF682_uc002nop.2_Missense_Mutation_p.E369K|ZNF682_uc010eck.2_Missense_Mutation_p.E325K NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 401 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TTGCCACATTCTTCACATTTG 0.378 NA 16 77 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31038871 31038871 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:31038871C>T uc002nsu.1 + 4 2483 c.2345C>T c.(2344-2346)CCG>CTG p.P782L ZNF536_uc010edd.1_Missense_Mutation_p.P782L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 782 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TACAAGTGTCCGCACTGTGAC 0.502 NA 13 70 0 0 0 0 HPN 3249 broad.mit.edu 37 19 35551551 35551551 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:35551551G>T uc002nxq.1 + 10 886 c.641G>T c.(640-642)CGA>CTA p.R214L HPN_uc002nxr.1_Missense_Mutation_p.R214L|HPN_uc002nxs.1_Missense_Mutation_p.R56L|HPN_uc010xsh.1_Missense_Mutation_p.R183L|HPN_uc002nxt.1_Missense_Mutation_p.R98L|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 214 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GTCCTGTCCCGATGGCGAGTG 0.682 NA 10 39 3.07e-06 3.22e-06 1 0 CD22 933 broad.mit.edu 37 19 35828818 35828818 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:35828818G>A uc010edt.2 + 5 956 c.879G>A c.(877-879)ACG>ACA p.T293T CD22_uc010xst.1_Silent_p.T121T|CD22_uc010edu.2_Silent_p.T293T|CD22_uc010edv.2_Silent_p.T293T|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 293 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion protein binding|sugar binding p.T293T(1) ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) ATACATTCACGCTAAACCTGC 0.567 NA 4 43 0 0 0 0 GAPDHS 26330 broad.mit.edu 37 19 36033280 36033280 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:36033280C>G uc002oaf.1 + 5 625 c.509C>G c.(508-510)ACA>AGA p.T170R uc010eec.1_Intron|uc002oag.2_Intron NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 170 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GTGGAGTCCACAGGCGTGTAC 0.637 NA 8 38 0 0 0 0 ZNF570 148268 broad.mit.edu 37 19 37975067 37975067 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:37975067G>C uc002ogk.1 + 5 1072 c.543G>C c.(541-543)AAG>AAC p.K181N ZNF570_uc010efl.1_Missense_Mutation_p.K237N|ZNF570_uc010xtr.1_5'UTR NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTACACAAAAGATAATCCCCA 0.358 NA 42 183 0 0 0 0 SARS2 54938 broad.mit.edu 37 19 39437135 39437135 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:39437135C>G uc010xuq.1 - 3 247 c.39G>C c.(37-39)CAG>CAC p.Q13H FBXO17_uc002okg.1_Missense_Mutation_p.Q178H|FBXO17_uc002okf.1_Missense_Mutation_p.Q187H NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor Error:Variant_position_missing_in_Q9NP81_after_alignment seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGATCTCAATCTGGGCGCTGT 0.637 NA 12 49 0 0 0 0 CCDC97 90324 broad.mit.edu 37 19 41828509 41828509 + Silent SNP C C T rs143105404 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:41828509C>T uc002oqg.2 + 5 1043 c.921C>T c.(919-921)GAC>GAT p.D307D CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 307 0 GCACAGTAGACGACAACCCCG 0.612 NA 9 88 0 0 0 0 LIPE 3991 broad.mit.edu 37 19 42907160 42907160 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:42907160C>T uc002otr.2 - 9 2843 c.2566G>A c.(2566-2568)GAA>AAA p.E856K uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 856 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) AGTGCTGCTTCAGACACACTG 0.617 NA 6 52 0 0 0 0 FBXO46 23403 broad.mit.edu 37 19 46215859 46215859 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:46215859G>A uc002pcy.2 - 2 1020 c.895C>T c.(895-897)CGA>TGA p.R299* FBXO46_uc002pcz.2_Nonsense_Mutation_p.R299* NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 299 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TCCTTGGCTCGGGCCCCAGGA 0.682 NA 4 16 0 0 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973455 46973455 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:46973455C>T uc002peq.3 - 2 1144 c.838G>A c.(838-840)GAA>AAA p.E280K PNMAL1_uc002per.3_Missense_Mutation_p.E280K NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 280 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCCATGCTTTCAGCATCACCC 0.517 NA 27 151 0 0 0 0 LMTK3 114783 broad.mit.edu 37 19 49004553 49004553 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:49004553C>T uc002pjk.2 - 10 1075 c.1075G>A c.(1075-1077)GAG>AAG p.E359K NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) ATGTTGCTCTCGCGGCTCTGG 0.662 NA 13 66 0 0 0 0 PPFIA3 8541 broad.mit.edu 37 19 49652886 49652886 + Nonsense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:49652886C>G uc002pmr.2 + 28 3769 c.3437C>G c.(3436-3438)TCA>TGA p.S1146* PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.S1005*|PPFIA3_uc002pmt.2_Nonsense_Mutation_p.S285*|PPFIA3_uc002pmu.1_Nonsense_Mutation_p.S195* NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 1146 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACTCCCGACTCAGCTGAGATG 0.647 NA 3 40 0 0 0 0 MYH14 79784 broad.mit.edu 37 19 50780093 50780093 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:50780093G>A uc002prr.1 + 27 3684 c.3637G>A c.(3637-3639)GAG>AAG p.E1213K MYH14_uc010enu.1_Missense_Mutation_p.E1254K|MYH14_uc002prq.1_Missense_Mutation_p.E1221K NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1213 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGCAGTGCAGGAGCTGAGGCA 0.532 NA 14 51 0 0 0 0 ZNF808 388558 broad.mit.edu 37 19 53058569 53058569 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:53058569C>T uc010epq.1 + 5 2577 c.2400C>T c.(2398-2400)TTC>TTT p.F800F ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 800 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ACAAGGCTTTCGTGCGTAATT 0.408 NA 24 190 0 0 0 0 ZNF816A 125893 broad.mit.edu 37 19 53454322 53454322 + Missense_Mutation SNP T T C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:53454322T>C uc002qal.1 - 5 1007 c.706A>G c.(706-708)AAA>GAA p.K236E ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.K220E NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 236 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TTAAAGGCTTTGCCACACTCA 0.348 NA 14 74 0 0 0 0 SUV420H2 84787 broad.mit.edu 37 19 55857665 55857665 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:55857665G>A uc002qkj.3 + 7 903 c.655G>A c.(655-657)GAG>AAG p.E219K SUV420H2_uc002qkl.2_Missense_Mutation_p.E104K NM_032701 NP_116090 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 219 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTTCTACGGCGAGGGCTTCTT 0.622 NA 8 65 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57641988 57641988 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:57641988G>A uc002qny.2 + 4 2301 c.1945G>A c.(1945-1947)GAC>AAC p.D649N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 649 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCAGTGGCTGACTCACTGAT 0.498 NA 6 51 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1914020 1914020 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:1914020G>A uc002qxe.2 - 13 2636 c.1809C>T c.(1807-1809)CGC>CGT p.R603R MYT1L_uc002qxd.2_Silent_p.R601R|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 603 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCTGAGCACGCGGTCCGAGG 0.637 NA 5 37 0 0 0 0 GRHL1 29841 broad.mit.edu 37 2 10136520 10136520 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:10136520G>C uc002raa.2 + 14 1839 c.1668G>C c.(1666-1668)TTG>TTC p.L556F GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.L367F|GRHL1_uc010yjb.1_Missense_Mutation_p.L405F NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 556 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TGAAGGGCTTGATGGAAGCTG 0.413 NA 20 82 0 0 0 0 ROCK2 9475 broad.mit.edu 37 2 11361348 11361348 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:11361348C>G uc002rbd.1 - 9 1684 c.1235G>C c.(1234-1236)GGA>GCA p.G412A NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 412 Interaction with NPM1.|AGC-kinase C-terminal.|Interaction with PPP1R12A. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GTAGGTAAATCCGATGAAAGG 0.323 NA 24 123 0 0 0 0 E2F6 1876 broad.mit.edu 37 2 11605933 11605933 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:11605933G>A uc002rbh.2 - 1 365 c.73C>T c.(73-75)CGG>TGG p.R25W E2F6_uc002rbe.2_5'UTR|E2F6_uc002rbf.2_5'UTR|E2F6_uc002rbg.2_5'UTR|E2F6_uc002rbi.2_5'UTR|E2F6_uc010yjl.1_RNA|E2F6_uc002rbj.1_RNA NM_198256 NP_937987 O75461 E2F6_HUMAN E2F transcription factor 6 25 negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity skin(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) TCTCGGCACCGACGGCGAACC 0.716 NA 5 7 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15417101 15417101 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:15417101C>T uc002rcc.1 - 43 5289 c.5263G>A c.(5263-5265)GAT>AAT p.D1755N NBAS_uc010exl.1_Missense_Mutation_p.D827N|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1755 ovary(2)|liver(1)|skin(1) 4 CTTTCGTGATCAAAGCCACCA 0.443 NA 6 51 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27685974 27685974 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:27685974G>T uc002rku.2 - 19 2063 c.2012C>A c.(2011-2013)TCC>TAC p.S671Y NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 671 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) ATATTCCCGGGATACTTGATC 0.438 NA 8 58 5.49e-09 5.83e-09 1 0 LCLAT1 253558 broad.mit.edu 37 2 30756062 30756062 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:30756062C>G uc002rnj.2 + 4 569 c.360C>G c.(358-360)ATC>ATG p.I120M LCLAT1_uc010ymp.1_Translation_Start_Site|LCLAT1_uc002rnk.1_Missense_Mutation_p.I120M|LCLAT1_uc002rnl.2_Missense_Mutation_p.I82M|LCLAT1_uc010ymq.1_Missense_Mutation_p.I82M NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 120 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 GTGTCATTATCATGAACCATC 0.403 NA 13 133 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32626362 32626362 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:32626362C>G uc010ezu.2 + 7 1300 c.1166C>G c.(1165-1167)TCT>TGT p.S389C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 389 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GACAGAATATCTTGCTTTGGG 0.453 NA 41 230 0 0 0 0 CDKL4 344387 broad.mit.edu 37 2 39411779 39411779 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:39411779C>G uc002rrm.2 - 7 745 c.745G>C c.(745-747)GAG>CAG p.E249Q CDKL4_uc010fal.1_Missense_Mutation_p.E249Q NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 249 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) AACTTTTCCTCAAGAGTTTCC 0.239 NA 3 40 0 0 0 0 LRPPRC 10128 broad.mit.edu 37 2 44116941 44116941 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:44116941G>C uc002rtr.2 - 37 4118 c.4060C>G c.(4060-4062)CTG>GTG p.L1354V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 1354 RNA-binding. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTAGAAACAGATCATCCAAT 0.358 NA 11 74 0 0 0 0 C2orf34 79823 broad.mit.edu 37 2 44970813 44970813 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:44970813G>A uc002rum.2 + 8 780 c.676G>A c.(676-678)GAC>AAC p.D226N NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN hypothetical protein LOC79823 226 cytoplasm calmodulin-lysine N-methyltransferase activity 0 all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17) AGGACATTTTGACATTGTTAT 0.343 NA 7 26 0 0 0 0 SOCS5 9655 broad.mit.edu 37 2 46986106 46986106 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:46986106G>A uc002rvf.2 + 2 601 c.437G>A c.(436-438)CGA>CAA p.R146Q SOCS5_uc010yoe.1_Missense_Mutation_p.R115Q|SOCS5_uc002rvg.2_Missense_Mutation_p.R146Q NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 146 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGTAGAACTCGAAGTGGACTT 0.468 NA 16 67 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54876298 54876298 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:54876298G>A uc002rxu.2 + 25 5422 c.5173G>A c.(5173-5175)GAA>AAA p.E1725K SPTBN1_uc002rxx.2_Missense_Mutation_p.E1712K NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1725 Interaction with ANK2.|Spectrin 14. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGGGTCCCATGAACTGGGACA 0.552 NA 12 64 0 0 0 0 PNO1 56902 broad.mit.edu 37 2 68389791 68389791 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:68389791G>A uc002seh.2 + 5 678 c.616G>A c.(616-618)GAT>AAT p.D206N NM_020143 NP_064528 Q9NRX1 PNO1_HUMAN partner of NOB1 206 KH. nucleolus RNA binding 0 AGTTTTGGCTGATGTGTAAGT 0.353 NA 13 65 0 0 0 0 HK2 3099 broad.mit.edu 37 2 75061710 75061710 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:75061710G>A uc002snd.2 + 1 1929 c.3G>A c.(1-3)ATG>ATA p.M1I NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 1 Hydrophobic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GCGGCAGGATGATTGCCTCGC 0.677 NA 6 42 0 0 0 0 VAMP5 10791 broad.mit.edu 37 2 85818887 85818887 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:85818887G>A uc002spu.1 + 2 126 c.43G>A c.(43-45)GAG>AAG p.E15K NM_006634 NP_006625 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 15 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). cell differentiation|vesicle-mediated transport endomembrane system 0 GCAGGCGAACGAGGTGACGGA 0.602 NA 21 80 0 0 0 0 PROM2 150696 broad.mit.edu 37 2 95953210 95953210 + Nonsense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:95953210G>T uc002suh.1 + 20 2375 c.2242G>T c.(2242-2244)GAG>TAG p.E748* PROM2_uc002sui.2_Nonsense_Mutation_p.E748*|PROM2_uc002suj.2_Nonsense_Mutation_p.E402*|PROM2_uc002suk.2_Nonsense_Mutation_p.E748*|PROM2_uc002sul.2_Nonsense_Mutation_p.E274*|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 748 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GGTGAGAGAGGAGGTGAGTGG 0.642 NA 5 40 0.000602214 0.000618211 1 0 AFF3 3899 broad.mit.edu 37 2 100203693 100203693 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:100203693C>G uc002tag.2 - 15 2750 c.2514G>C c.(2512-2514)GAG>GAC p.E838D AFF3_uc002taf.2_Missense_Mutation_p.E863D|AFF3_uc010fiq.1_Missense_Mutation_p.E838D|AFF3_uc010yvr.1_Missense_Mutation_p.E991D|AFF3_uc002tah.1_Missense_Mutation_p.E863D NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 838 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGCTGTCTTTCTCTCCCTGGG 0.453 NA 32 148 0 0 0 0 NMS 129521 broad.mit.edu 37 2 101096984 101096984 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:101096984C>T uc002tan.1 + 7 370 c.363C>T c.(361-363)TTC>TTT p.F121F NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 121 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 CAGTGGACTTCACCAAGAAGG 0.562 NA 8 52 0 0 0 0 C1QL2 165257 broad.mit.edu 37 2 119915802 119915802 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:119915802G>T uc002tlo.2 - 1 670 c.44C>A c.(43-45)GCG>GAG p.A15E NM_182528 NP_872334 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 15 collagen pancreas(1) 1 TCGGGGCGCCGCCTGCAGCAG 0.741 NA HNSCC(49;0.14) 4 5 1.24e-05 1.29e-05 1 0 CNTNAP5 129684 broad.mit.edu 37 2 124783248 124783248 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:124783248G>A uc002tno.2 + 1 385 c.21G>A c.(19-21)CTG>CTA p.L7L CNTNAP5_uc010flu.2_Silent_p.L7L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 7 cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TACCACGGCTGACCAGCGTTT 0.547 NA 8 71 0 0 0 0 DARS 1615 broad.mit.edu 37 2 136740989 136740989 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:136740989C>G uc002tux.1 - 2 286 c.102G>C c.(100-102)ATG>ATC p.M34I DARS_uc010fnj.1_Intron NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 34 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GTGATTGTATCATTGAAGATA 0.299 NA 2 8 0 0 0 0 NMI 9111 broad.mit.edu 37 2 152132175 152132175 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:152132175C>G uc002txi.2 - 6 787 c.457G>C c.(457-459)GAA>CAA p.E153Q NMI_uc010zbx.1_3'UTR NM_004688 NP_004679 Q13287 NMI_HUMAN N-myc and STAT interactor 153 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity 0 BRCA - Breast invasive adenocarcinoma(221;0.0571) TTAGAAACTTCTACATAAACC 0.343 NA 6 73 0 0 0 0 PKP4 8502 broad.mit.edu 37 2 159530188 159530188 + Splice_Site SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:159530188G>A uc002tzv.2 + 18 3185 c.2925_splice c.e18-1 p.R975_splice PKP4_uc002tzw.2_Splice_Site_p.R975_splice|PKP4_uc002tzx.2_Splice_Site_p.R632_splice|PKP4_uc002uaa.2_Splice_Site_p.R827_splice|uc002uab.1_Intron|PKP4_uc002uac.2_Splice_Site_p.R156_splice|PKP4_uc002uad.2_Splice_Site|PKP4_uc002uae.1_Splice_Site_p.R62_splice NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TCTCTACCTAGATCATCTCTG 0.478 NA HNSCC(62;0.18) 11 53 0 0 0 0 WDSUB1 151525 broad.mit.edu 37 2 160092614 160092614 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:160092614G>A uc002uaj.3 - 11 1510 c.1361C>T c.(1360-1362)TCA>TTA p.S454L WDSUB1_uc002uak.3_Missense_Mutation_p.S454L|WDSUB1_uc002ual.3_Missense_Mutation_p.S454L|WDSUB1_uc002uam.3_Missense_Mutation_p.S407L|WDSUB1_uc010foo.2_Missense_Mutation_p.S362L NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 454 U-box. ubiquitin ligase complex ubiquitin-protein ligase activity 0 AAGTACCGCTGAAGGAAGAAC 0.333 NA 10 36 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 166011139 166011139 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:166011139C>T uc002ucx.2 - 11 1695 c.1203G>A c.(1201-1203)ATG>ATA p.M401I SCN3A_uc002ucy.2_Missense_Mutation_p.M401I|SCN3A_uc002ucz.2_Missense_Mutation_p.M401I|SCN3A_uc002uda.1_Missense_Mutation_p.M270I|SCN3A_uc002udb.1_Missense_Mutation_p.M270I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 401 Helical; Name=S6 of repeat I; (Potential). M -> T (in Ref. 4; AAC29514/AAC29515). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CAAAAAATATCATGTATGTTT 0.413 NA 17 65 0 0 0 0 SCN7A 6332 broad.mit.edu 37 2 167262119 167262119 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:167262119C>A uc002udu.1 - 25 5147 c.5020G>T c.(5020-5022)GAA>TAA p.E1674* NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1674 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.E1674K(1) large_intestine(1) 1 GGTGACTTTTCCTTAGCTTTG 0.353 NA 38 189 3.09e-21 3.33e-21 1 0 ABCB11 8647 broad.mit.edu 37 2 169869909 169869909 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:169869909C>G uc002ueo.1 - 5 388 c.262G>C c.(262-264)GAT>CAT p.D88H NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 88 ABC transmembrane type-1 1.|Extracellular (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ATAAAAACATCTGTCATTGTG 0.423 NA 34 192 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179497295 179497295 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:179497295C>G uc010zfg.1 - 184 35958 c.35734G>C c.(35734-35736)GAA>CAA p.E11912Q TTN_uc010zfh.1_Missense_Mutation_p.E5607Q|TTN_uc010zfi.1_Missense_Mutation_p.E5540Q|TTN_uc010zfj.1_Missense_Mutation_p.E5415Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12839 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) TCTTCAGCTTCAAACATGTAT 0.348 NA 25 104 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179497313 179497313 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:179497313C>T uc010zfg.1 - 184 35940 c.35716G>A c.(35716-35718)GAA>AAA p.E11906K TTN_uc010zfh.1_Missense_Mutation_p.E5601K|TTN_uc010zfi.1_Missense_Mutation_p.E5534K|TTN_uc010zfj.1_Missense_Mutation_p.E5409K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12833 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) TATTTTGCTTCATCTTCAAAA 0.373 NA 30 144 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179547472 179547472 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:179547472C>T uc010zfg.1 - 132 29538 c.29314G>A c.(29314-29316)GAG>AAG p.E9772K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6433K|TTN_uc010fre.1_Missense_Mutation_p.E619K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10699 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) TCCCGCTCCTCGTATTCTTCA 0.358 NA 30 216 0 0 0 0 DUSP19 142679 broad.mit.edu 37 2 183960237 183960237 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:183960237G>A uc002upd.2 + 4 880 c.505G>A c.(505-507)GAA>AAA p.E169K DUSP19_uc010frp.2_Missense_Mutation_p.E118K|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_3'UTR NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 169 Tyrosine-protein phosphatase. JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 GATGAATTCTGAACAAACCTC 0.388 NA 19 130 0 0 0 0 DUSP19 142679 broad.mit.edu 37 2 183960345 183960345 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:183960345G>A uc002upd.2 + 4 988 c.613G>A c.(613-615)GAA>AAA p.E205K DUSP19_uc010frp.2_Missense_Mutation_p.E154K|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_3'UTR NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 205 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 AGAGGGCAAAGAAAGCAATAA 0.398 NA 10 50 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800988 185800988 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:185800988G>C uc002uph.2 + 4 1459 c.865G>C c.(865-867)GAA>CAA p.E289Q NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 289 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CAGAGACAAAGAAACTGTTCA 0.363 NA 9 52 0 0 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702178 187702178 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:187702178C>G uc002upu.1 - 5 638 c.598G>C c.(598-600)GAG>CAG p.E200Q NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 200 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GGTGCAAACTCTTTCCTGCAC 0.383 NA 10 85 0 0 0 0 MPP4 58538 broad.mit.edu 37 2 202550741 202550741 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:202550741C>T uc002uyk.3 - 6 601 c.393G>A c.(391-393)CAG>CAA p.Q131Q MPP4_uc010ftj.2_Silent_p.Q131Q|MPP4_uc010zhq.1_Silent_p.Q131Q|MPP4_uc010zhr.1_Silent_p.Q131Q|MPP4_uc010zhs.1_Intron|MPP4_uc002uyj.3_Intron|MPP4_uc010zht.1_Silent_p.Q104Q|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.Q131Q|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.2_Intron NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 131 L27 2. cytoplasm protein binding 0 CAAAATCTTTCTGAGCTATCG 0.493 NA 29 137 0 0 0 0 ICOS 29851 broad.mit.edu 37 2 204820605 204820605 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:204820605C>T uc002vam.2 + 2 372 c.305C>T c.(304-306)TCT>TTT p.S102F ICOS_uc010zip.1_Missense_Mutation_p.S102F|ICOS_uc010fua.2_Missense_Mutation_p.S102F NM_012092 NP_036224 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator precursor 102 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation extracellular region 0 TTGGACCATTCTCATGCCAAC 0.358 NA 9 69 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212566850 212566850 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:212566850G>C uc002veg.1 - 12 1429 c.1331C>G c.(1330-1332)TCT>TGT p.S444C ERBB4_uc002veh.1_Missense_Mutation_p.S444C|ERBB4_uc010zji.1_Missense_Mutation_p.S444C|ERBB4_uc010zjj.1_Missense_Mutation_p.S444C|ERBB4_uc010fut.1_Missense_Mutation_p.S444C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 444 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAACTGTAGAGAGGTGATGCC 0.458 NA TSP Lung(8;0.080) 13 83 0 0 0 0 TNS1 7145 broad.mit.edu 37 2 218749773 218749773 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:218749773C>G uc002vgt.2 - 14 1254 c.856G>C c.(856-858)GAT>CAT p.D286H TNS1_uc002vgr.2_Missense_Mutation_p.D286H|TNS1_uc002vgs.2_Missense_Mutation_p.D286H|TNS1_uc010zjv.1_Missense_Mutation_p.D286H|TNS1_uc010fvj.1_Missense_Mutation_p.D354H|TNS1_uc010fvk.1_Missense_Mutation_p.D411H|TNS1_uc002vgu.3_Missense_Mutation_p.D317H|TNS1_uc010fvi.1_5'UTR NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 286 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AAAGCATCATCAAGGTCCTCC 0.577 NA 4 52 0 0 0 0 ATG9A 79065 broad.mit.edu 37 2 220085575 220085575 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:220085575C>T uc002vke.1 - 15 2594 c.2408G>A c.(2407-2409)CGG>CAG p.R803Q ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.R803Q NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 803 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGAGGCAGCCGAGAGAAATG 0.577 NA 11 44 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227958967 227958967 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:227958967G>C uc010zlt.1 - 20 1897 c.1243C>G c.(1243-1245)CTT>GTT p.L415V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 415 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGCCCAGGAAGACCAGGAAAT 0.502 NA 5 33 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228109061 228109061 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:228109061C>T uc002vom.1 + 4 422 c.260C>T c.(259-261)ACG>ATG p.T87M COL4A3_uc002von.1_Missense_Mutation_p.T87M|COL4A3_uc002voo.1_Missense_Mutation_p.T87M|COL4A3_uc002vop.1_Missense_Mutation_p.T87M|uc002voq.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 87 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCAGGACTCACGGGTTCCAAA 0.378 NA 13 73 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233671258 233671258 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:233671258C>G uc002vti.3 + 17 2034 c.1697C>G c.(1696-1698)TCT>TGT p.S566C GIGYF2_uc010zmj.1_Missense_Mutation_p.S566C|GIGYF2_uc002vtg.2_Missense_Mutation_p.S560C|GIGYF2_uc002vtj.3_Missense_Mutation_p.S587C|GIGYF2_uc002vtk.3_Missense_Mutation_p.S566C|GIGYF2_uc002vth.3_Missense_Mutation_p.S560C|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.S397C NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 566 GYF. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTACTATGTCTTTATTGGTG 0.438 NA 33 147 0 0 0 0 NEU2 4759 broad.mit.edu 37 2 233899032 233899032 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:233899032G>A uc010zmn.1 + 2 408 c.408G>A c.(406-408)TGG>TGA p.W136* NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 136 BNR 1. exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GGAGGACCTGGAGCTCCCCCA 0.637 NA 10 37 0 0 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950502 235950502 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr2:235950502G>A uc002vvp.2 + 4 1482 c.1089G>A c.(1087-1089)CCG>CCA p.P363P SH3BP4_uc010fym.2_Silent_p.P363P|SH3BP4_uc002vvq.2_Silent_p.P363P NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 363 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGGACCCCCCGCTGGAGCTCA 0.597 NA 6 45 0 0 0 0 LBP 3929 broad.mit.edu 37 20 36992685 36992685 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:36992685C>T uc002xic.1 + 7 744 c.709C>T c.(709-711)CGG>TGG p.R237W NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 237 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) GGAAGCCCCTCGGGCAACAGC 0.547 NA 9 37 0 0 0 0 SFRS6 6431 broad.mit.edu 37 20 42089355 42089355 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:42089355G>C uc010zwg.1 + 6 857 c.687G>C c.(685-687)CGG>CGC p.R229R SFRS6_uc002xki.2_Silent_p.R100R|SFRS6_uc002xkk.2_Intron NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 229 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCAGGTCGCGGAGCAAAGGTC 0.438 NA 7 36 0 0 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47649614 47649614 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:47649614G>C uc002xtx.3 + 39 5388 c.5236G>C c.(5236-5238)GAC>CAC p.D1746H ARFGEF2_uc010zyf.1_Missense_Mutation_p.D1039H NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1746 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TATGCAGTTTGACCTGATCCC 0.418 NA 9 57 0 0 0 0 ZNF217 7764 broad.mit.edu 37 20 52199332 52199332 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:52199332G>A uc002xwq.3 - 1 305 c.34C>T c.(34-36)CAA>TAA p.Q12* ZNF217_uc010gij.1_Nonsense_Mutation_p.Q4* NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 12 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) AAGAGGGATTGAGTTGGCATG 0.468 NA 15 97 0 0 0 0 DOK5 55816 broad.mit.edu 37 20 53208154 53208154 + Splice_Site SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:53208154G>C uc002xwy.2 + 5 630 c.410_splice c.e5-1 p.E137_splice DOK5_uc010gin.2_Splice_Site_p.E29_splice|DOK5_uc002xwz.2_Intron NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 insulin receptor binding ovary(1) 1 Colorectal(105;0.202) TTTTCTCCCAGAGAGATTCAA 0.368 NA 5 72 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61525058 61525058 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:61525058C>T uc002ydr.1 - 12 3325 c.3061G>A c.(3061-3063)GAC>AAC p.D1021N DIDO1_uc002yds.1_Missense_Mutation_p.D1021N|DIDO1_uc002ydt.1_Missense_Mutation_p.D1021N|DIDO1_uc002ydu.1_Missense_Mutation_p.D1021N NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1021 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TATCTTGGGTCAGGAGATGAG 0.483 NA 18 87 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61525160 61525160 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr20:61525160C>T uc002ydr.1 - 12 3223 c.2959G>A c.(2959-2961)GAC>AAC p.D987N DIDO1_uc002yds.1_Missense_Mutation_p.D987N|DIDO1_uc002ydt.1_Missense_Mutation_p.D987N|DIDO1_uc002ydu.1_Missense_Mutation_p.D987N NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 987 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TGGGTGCTGTCTGGGCGGGAT 0.622 NA 16 86 0 0 0 0 CRYZL1 9946 broad.mit.edu 37 21 34994360 34994360 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr21:34994360C>T uc011adw.1 - 4 339 c.159G>A c.(157-159)ATG>ATA p.M53I DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.M77I|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Missense_Mutation_p.M53I NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 53 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 TTTTCATCTTCATTTCTGCCA 0.338 NA 28 119 0 0 0 0 ITSN1 6453 broad.mit.edu 37 21 35166702 35166702 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr21:35166702G>A uc002yta.1 + 17 2150 c.1882G>A c.(1882-1884)GAA>AAA p.E628K DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E628K|ITSN1_uc010gmg.2_Missense_Mutation_p.E591K|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E628K|ITSN1_uc010gmi.2_Missense_Mutation_p.E591K|ITSN1_uc010gmj.2_Missense_Mutation_p.E512K|ITSN1_uc002ysy.2_Missense_Mutation_p.E628K|ITSN1_uc002ysx.2_Missense_Mutation_p.E591K|ITSN1_uc002ytb.1_Missense_Mutation_p.E628K|ITSN1_uc002ytc.1_Missense_Mutation_p.E628K|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E591K|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E628K|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E562K NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 628 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CATGGAGGCTGAACGACTGAA 0.383 NA 12 67 0 0 0 0 RRP1 8568 broad.mit.edu 37 21 45219458 45219458 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr21:45219458C>T uc002zds.2 + 9 912 c.819C>T c.(817-819)ATC>ATT p.I273I RRP1_uc011aez.1_Silent_p.I273I|RRP1_uc010gpk.1_Silent_p.I123I|RRP1_uc010gpl.1_Silent_p.I171I|RRP1_uc010gpm.1_Silent_p.I140I NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 273 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CAGGCTCCATCTGCAGGGCTG 0.647 NA 5 45 0 0 0 0 CECR5 27440 broad.mit.edu 37 22 17630458 17630458 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:17630458C>T uc002zmf.2 - 2 332 c.304G>A c.(304-306)GAG>AAG p.E102K CECR5_uc002zme.2_5'Flank|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.E72K NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 102 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) GCTGACAGCTCCTGGGCTTTG 0.597 NA 14 95 0 0 0 0 TXNRD2 10587 broad.mit.edu 37 22 19868160 19868160 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:19868160C>A uc011ahc.1 - 13 1200 c.1167G>T c.(1165-1167)CTG>CTT p.L389L TXNRD2_uc002zql.1_Silent_p.L143L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L388L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.L39L NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 389 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) CGTAGTCCATCAGATCTGAGG 0.612 NA 4 48 0.00909568 0.00925056 1 0 GGA1 26088 broad.mit.edu 37 22 38028118 38028118 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:38028118G>A uc003atc.2 + 15 2009 c.1644G>A c.(1642-1644)CTG>CTA p.L548L GGA1_uc003atd.2_Silent_p.L461L|GGA1_uc003ate.2_Silent_p.L544L|GGA1_uc003atf.2_Silent_p.L475L|SH3BP1_uc003atg.1_5'Flank NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 548 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|ovary(1) 3 Melanoma(58;0.0574) TTTCCATGCTGAGCACCGCCC 0.627 NA 3 21 0 0 0 0 ST13 6767 broad.mit.edu 37 22 41240869 41240869 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:41240869G>A uc003aze.2 - 4 432 c.289C>T c.(289-291)CAA>TAA p.Q97* ST13_uc011aow.1_Nonsense_Mutation_p.Q87* NM_003932 NP_003923 P50502 F10A1_HUMAN heat shock 70kD protein binding protein 97 protein binding, bridging 0 CCCATTTCTTGAGGAGCATCA 0.408 NA 5 18 0 0 0 0 WBP2NL 164684 broad.mit.edu 37 22 42423140 42423140 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:42423140C>T uc011ape.1 + 7 901 c.885C>T c.(883-885)AAC>AAT p.N295N WBP2NL_uc003bbt.2_Silent_p.N295N|WBP2NL_uc011apk.1_Silent_p.N167N|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 295 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 CTCCTGAAAACGAGGCTTCTC 0.527 NA 19 83 0 0 0 0 NUP50 10762 broad.mit.edu 37 22 45571788 45571788 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:45571788G>T uc003bfr.2 + 4 629 c.167G>T c.(166-168)GGA>GTA p.G56V NUP50_uc003bfs.2_Missense_Mutation_p.G28V|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Missense_Mutation_p.G28V|NUP50_uc011aqo.1_5'Flank NM_007172 NP_009103 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa isoform b 56 Gly-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GACACTGGAGGAGCCTTTAAA 0.463 NA 15 95 0.000422831 0.000435765 1 0 FAM118A 55007 broad.mit.edu 37 22 45728405 45728405 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr22:45728405G>A uc003bfz.3 + 7 1367 c.751G>A c.(751-753)GTG>ATG p.V251M FAM118A_uc003bga.3_Missense_Mutation_p.V251M|FAM118A_uc011aqr.1_Missense_Mutation_p.V69M NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 251 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TCTTTACTCCGTGCCGAATAA 0.478 NA 22 138 0 0 0 0 GADL1 339896 broad.mit.edu 37 3 30885930 30885930 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:30885930G>C uc003cep.2 - 7 727 c.680C>G c.(679-681)TCT>TGT p.S227C GADL1_uc003ceq.1_Missense_Mutation_p.S227C NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 227 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CCCAAGAAAAGAGGCTGCCTT 0.433 NA 35 150 0 0 0 0 CLASP2 23122 broad.mit.edu 37 3 33585011 33585011 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:33585011C>T uc003cfu.2 - 31 3672 c.3318G>A c.(3316-3318)TTG>TTA p.L1106L CLASP2_uc003cfs.2_Silent_p.L313L|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Silent_p.L706L NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1115 ovary(3)|central_nervous_system(1) 4 TTGGTCTTGTCAAAGGACTCC 0.393 NA 13 80 0 0 0 0 SCN5A 6331 broad.mit.edu 37 3 38645426 38645426 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:38645426C>T uc003cio.2 - 12 1861 c.1667G>A c.(1666-1668)AGC>AAC p.S556N SCN5A_uc003cin.2_Missense_Mutation_p.S556N|SCN5A_uc003cil.3_Missense_Mutation_p.S556N|SCN5A_uc010hhi.2_Missense_Mutation_p.S556N|SCN5A_uc010hhk.2_Missense_Mutation_p.S556N|SCN5A_uc011ayr.1_Missense_Mutation_p.S556N|SCN5A_uc010hhj.1_Missense_Mutation_p.S167N NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 556 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGTGTGGTGGCTCTCGCTCTC 0.642 NA 7 41 0 0 0 0 ULK4 54986 broad.mit.edu 37 3 41973352 41973352 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:41973352C>T uc003ckv.3 - 5 726 c.525G>A c.(523-525)ATG>ATA p.M175I ULK4_uc003ckw.2_Missense_Mutation_p.M175I|ULK4_uc003ckx.1_Missense_Mutation_p.M175I NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 175 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTCTACTTTTCATGCTTTTCT 0.423 NA 22 185 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48669702 48669702 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:48669702G>A uc003cuf.1 - 41 10776 c.10776C>T c.(10774-10776)CTC>CTT p.L3592L SLC26A6_uc003cug.2_Silent_p.L166L|SLC26A6_uc003cuh.2_Silent_p.L187L|SLC26A6_uc010hke.2_Silent_p.L38L|SLC26A6_uc003cuk.2_Intron|SLC26A6_uc003cui.2_Silent_p.L187L|SLC26A6_uc003cuj.2_Silent_p.L187L|SLC26A6_uc011bbp.1_Intron NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCAGGACACTGAGTGTGGAGG 0.602 NA 15 55 0 0 0 0 QARS 5859 broad.mit.edu 37 3 49136368 49136368 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:49136368G>C uc003cvx.2 - 19 1818 c.1813C>G c.(1813-1815)CAG>GAG p.Q605E QARS_uc011bcc.1_Missense_Mutation_p.Q58E|QARS_uc011bcd.1_Missense_Mutation_p.Q460E|QARS_uc003cvy.2_Missense_Mutation_p.Q460E|QARS_uc011bce.1_Missense_Mutation_p.Q594E NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 605 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AAGGGAACCTGATGGAAGCCT 0.517 NA 12 50 0 0 0 0 MON1A 84315 broad.mit.edu 37 3 49947847 49947847 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:49947847C>T uc003cxz.2 - 4 1501 c.1375G>A c.(1375-1377)GAG>AAG p.E459K MON1A_uc003cya.2_Missense_Mutation_p.E297K|MON1A_uc003cyb.2_Missense_Mutation_p.E297K NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 362 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTCCAGGCCTCGCCCTCGCGA 0.597 NA 6 44 0 0 0 0 HEMK1 51409 broad.mit.edu 37 3 50608743 50608743 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:50608743C>T uc003dau.2 + 2 504 c.208C>T c.(208-210)CAT>TAT p.H70Y C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Missense_Mutation_p.H70Y|HEMK1_uc003daw.2_Missense_Mutation_p.H70Y NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 70 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) CATCGTGGCTCATGTCCTTGG 0.522 NA 5 39 0 0 0 0 PCBP4 57060 broad.mit.edu 37 3 51992917 51992917 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:51992917G>A uc003dcd.1 - 11 1208 c.812C>T c.(811-813)TCA>TTA p.S271L PCBP4_uc003dcb.1_Missense_Mutation_p.S237L|PCBP4_uc003dcc.1_Missense_Mutation_p.S292L|PCBP4_uc003dce.1_Silent_p.V272V|PCBP4_uc003dcf.1_Missense_Mutation_p.S271L|PCBP4_uc003dcg.1_Missense_Mutation_p.S237L|PCBP4_uc003dch.1_Missense_Mutation_p.S271L|PCBP4_uc003dci.1_Missense_Mutation_p.S111L|PCBP4_uc003dcj.1_Missense_Mutation_p.S271L|PCBP4_uc003dck.1_Missense_Mutation_p.S228L|PCBP4_uc003dcl.1_Missense_Mutation_p.S271L NM_033010 NP_127503 P57723 PCBP4_HUMAN poly(rC) binding protein 4 isoform c 271 KH 3. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATGTGCCCCTGACATCTGCCG 0.612 NA 21 95 0 0 0 0 DUSP7 1849 broad.mit.edu 37 3 52087966 52087966 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:52087966G>C uc003dct.2 - 2 1021 c.942C>G c.(940-942)ATC>ATG p.I314M DUSP7_uc010hma.2_Missense_Mutation_p.I314M NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 314 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAATGAAGCTGATGGCCTCAG 0.612 NA 11 62 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53531326 53531326 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:53531326C>G uc003dgv.3 + 2 378 c.215C>G c.(214-216)TCT>TGT p.S72C CACNA1D_uc003dgu.3_Missense_Mutation_p.S72C|CACNA1D_uc003dgy.3_Missense_Mutation_p.S72C NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 72 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATGAGCACCTCTGCACCCCCA 0.547 NA 4 74 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 56173588 56173588 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:56173588G>C uc003dhr.1 - 6 1678 c.1422C>G c.(1420-1422)CTC>CTG p.L474L NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 474 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTGACTCTTTGAGCACTTCAA 0.428 NA 11 48 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89259517 89259517 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:89259517C>T uc003dqy.2 + 3 886 c.661C>T c.(661-663)CAG>TAG p.Q221* EPHA3_uc003dqx.1_Nonsense_Mutation_p.Q221*|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 221 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CATGGACTCCCAGTCCCTGGT 0.478 NA TSP Lung(6;0.00050) 18 137 0 0 0 0 DIRC2 84925 broad.mit.edu 37 3 122545833 122545833 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:122545833C>T uc003efw.3 + 3 763 c.624C>T c.(622-624)CCC>CCT p.P208P DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.P46P NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 208 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TTCCAGCTCCCAATGGGACAT 0.458 NA 22 125 0 0 0 0 MYLK 4638 broad.mit.edu 37 3 123419491 123419491 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:123419491C>T uc003ego.2 - 18 3106 c.2824G>A c.(2824-2826)GAG>AAG p.E942K MYLK_uc011bjw.1_Missense_Mutation_p.E942K|MYLK_uc003egp.2_Missense_Mutation_p.E873K|MYLK_uc003egq.2_Missense_Mutation_p.E942K|MYLK_uc003egr.2_Missense_Mutation_p.E873K|MYLK_uc003egs.2_Missense_Mutation_p.E766K|MYLK_uc003egt.2_Missense_Mutation_p.E133K NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 942 Actin-binding (calcium/calmodulin- sensitive) (By similarity).|5 X 28 AA approximate tandem repeats.|1-3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACCTTCCTCTCTTCCTCAGAC 0.587 NA 11 70 0 0 0 0 TMCC1 23023 broad.mit.edu 37 3 129389903 129389903 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:129389903C>T uc003emz.3 - 5 1282 c.781G>A c.(781-783)GAA>AAA p.E261K TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.E82K|TMCC1_uc010htg.2_Missense_Mutation_p.E147K NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 261 Potential. integral to membrane skin(1) 1 TTCAAGTATTCAGCAACGTTG 0.498 NA 45 214 0 0 0 0 RAB6B 51560 broad.mit.edu 37 3 133553479 133553479 + Nonsense_Mutation SNP G G A rs147187493 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:133553479G>A uc003epy.2 - 7 883 c.502C>T c.(502-504)CGA>TGA p.R168* RAB6B_uc011blu.1_Nonsense_Mutation_p.R155* NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 168 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 GCCACACGTCGAAAAAGCTGG 0.522 NA 16 70 0 0 0 0 A4GNT 51146 broad.mit.edu 37 3 137843367 137843367 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:137843367G>A uc003ers.2 - 3 964 c.762C>T c.(760-762)TTC>TTT p.F254F NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 254 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 GGGGGTGTAAGAAGGATATGT 0.493 NA 21 73 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277609 140277609 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:140277609G>C uc003etn.2 + 12 2141 c.1951G>C c.(1951-1953)GAA>CAA p.E651Q NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 651 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGCCCAGTTTGAAAGTGCCAG 0.582 NA HNSCC(16;0.037) 8 50 0 0 0 0 ATP1B3 483 broad.mit.edu 37 3 141626075 141626075 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:141626075C>T uc003eug.1 + 3 479 c.305C>T c.(304-306)TCG>TTG p.S102L ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.S88L NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 102 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 GATCCAACTTCGTATGCAGGG 0.343 NA 8 52 0 0 0 0 PLOD2 5352 broad.mit.edu 37 3 145789109 145789109 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:145789109G>A uc003evs.1 - 17 2393 c.1887C>T c.(1885-1887)TTC>TTT p.F629F PLOD2_uc003evq.1_Silent_p.F310F|PLOD2_uc011bnm.1_Silent_p.F595F|PLOD2_uc003evr.1_Silent_p.F650F NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 629 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) CTGGTGCAATGAACTCCCGGA 0.418 NA 9 77 0 0 0 0 AADAC 13 broad.mit.edu 37 3 151545802 151545802 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:151545802G>A uc003eze.2 + 5 1132 c.1042G>A c.(1042-1044)GAT>AAT p.D348N NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 348 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTAAGAGATGATGGACTCAT 0.468 NA 13 87 0 0 0 0 MME 4311 broad.mit.edu 37 3 154860103 154860103 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:154860103G>C uc010hvr.1 + 12 1383 c.1172G>C c.(1171-1173)AGA>ACA p.R391T MME_uc003fab.1_Missense_Mutation_p.R391T|MME_uc003fac.1_Missense_Mutation_p.R391T|MME_uc003fad.1_Missense_Mutation_p.R391T|MME_uc003fae.1_Missense_Mutation_p.R391T NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 391 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AAGGAGTCCAGAAATGCTTTC 0.393 NA 14 87 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155199669 155199669 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:155199669G>C uc011bok.1 - 23 4447 c.4170C>G c.(4168-4170)CTC>CTG p.L1390L PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.L1352L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1390 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GATTGTACTTGAGTTTTAAAG 0.418 NA 6 75 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168834418 168834418 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:168834418G>C uc003ffi.3 - 7 947 c.678C>G c.(676-678)TTC>TTG p.F226L MECOM_uc010hwk.1_Missense_Mutation_p.F249L|MECOM_uc003ffj.3_Missense_Mutation_p.F291L|MECOM_uc011bpi.1_Missense_Mutation_p.F227L|MECOM_uc003ffn.3_Missense_Mutation_p.F226L|MECOM_uc003ffk.2_Missense_Mutation_p.F226L|MECOM_uc003ffl.2_Missense_Mutation_p.F386L|MECOM_uc011bpj.1_Missense_Mutation_p.F414L|MECOM_uc011bpk.1_Missense_Mutation_p.F216L|MECOM_uc010hwn.2_Missense_Mutation_p.F414L NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 226 Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 7. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 ACGTAGTGCTGAACATTTGTC 0.438 NA 14 126 0 0 0 0 SAMD7 344658 broad.mit.edu 37 3 169644598 169644598 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:169644598G>A uc003fgd.2 + 6 815 c.548G>A c.(547-549)CGA>CAA p.R183Q SAMD7_uc003fge.2_Missense_Mutation_p.R183Q|SAMD7_uc011bpo.1_Missense_Mutation_p.R84Q NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 183 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGATGTCGTCGACTCAGGAAA 0.478 NA 10 75 0 0 0 0 KLHL24 54800 broad.mit.edu 37 3 183368194 183368194 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:183368194G>A uc003flv.2 + 3 345 c.50G>A c.(49-51)CGT>CAT p.R17H KLHL24_uc003flw.2_Missense_Mutation_p.R17H|KLHL24_uc003flx.2_Missense_Mutation_p.R17H NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 17 axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTTGGGGTGCGTGATTCCCCA 0.408 NA 7 59 0 0 0 0 ECE2 9718 broad.mit.edu 37 3 183996310 183996310 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:183996310C>A uc003fni.3 + 7 1173 c.1135C>A c.(1135-1137)CGG>AGG p.R379R ECE2_uc011brg.1_Silent_p.R307R|ECE2_uc011brh.1_Silent_p.R232R|ECE2_uc003fnl.3_Silent_p.R307R|ECE2_uc003fnm.3_Silent_p.R261R|ECE2_uc003fnk.3_Silent_p.R232R|ECE2_uc011bri.1_Silent_p.R294R|ECE2_uc010hxv.2_Intron NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 379 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGCCCTCTCGGGATTACTA 0.552 NA 21 113 7.45e-12 7.96e-12 1 0 PSMD2 5708 broad.mit.edu 37 3 184022098 184022098 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:184022098C>T uc003fnn.1 + 12 1491 c.1458C>T c.(1456-1458)GGC>GGT p.G486G PSMD2_uc011brj.1_Silent_p.G327G|PSMD2_uc011brk.1_Silent_p.G356G NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 486 PC 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GCAGGCTAGGCTTGGCTTATG 0.458 NA 51 137 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184046444 184046444 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:184046444G>A uc003fnp.2 + 27 4177 c.3979G>A c.(3979-3981)GAG>AAG p.E1327K EIF4G1_uc003fnt.2_Missense_Mutation_p.E1038K|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1240K|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1163K|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1334K|EIF4G1_uc003fns.2_Missense_Mutation_p.E1287K|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1334K|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1328K|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1327K|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1334K|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1132K|EIF4G1_uc003fny.3_Missense_Mutation_p.E1131K|EIF4G1_uc003foa.2_5'UTR NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1327 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAATTGGCTGAGGACATGGA 0.537 NA 31 187 0 0 0 0 ETV5 2119 broad.mit.edu 37 3 185823423 185823423 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:185823423C>T uc003fpz.2 - 3 371 c.124G>A c.(124-126)GAT>AAT p.D42N ETV5_uc003fpy.2_Missense_Mutation_p.D84N NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 42 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CCTTCAGAATCGTGAGCCAGA 0.478 NA T TMPRSS2|SCL45A3 Prostate 9 106 0 0 0 0 KNG1 3827 broad.mit.edu 37 3 186450325 186450325 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:186450325C>T uc011bsa.1 + 7 1004 c.792C>T c.(790-792)TGC>TGT p.C264C KNG1_uc003fqr.2_Silent_p.C264C NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 264 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCAAGATTTGCGTGGGCTGCC 0.488 NA 21 127 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185238 193185238 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:193185238C>T uc003ftd.2 - 10 1089 c.981G>A c.(979-981)AAG>AAA p.K327K ATP13A4_uc003fte.1_Silent_p.K327K|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Silent_p.K33K NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 327 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) AGCTATCCATCTTGGGTAACG 0.478 NA 15 137 0 0 0 0 APOD 347 broad.mit.edu 37 3 195306307 195306307 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:195306307G>A uc003fur.2 - 2 388 c.26C>T c.(25-27)TCC>TTC p.S9F APOD_uc011bsx.1_Missense_Mutation_p.S9F NM_001647 NP_001638 P05090 APOD_HUMAN apolipoprotein D precursor 9 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding ovary(2) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AGCCAGTGCGGAAAGCAGCAG 0.577 NA 6 55 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NA 5 5 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195511937 195511937 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:195511937C>T uc011bto.1 - 2 6974 c.6514G>A c.(6514-6516)GGT>AGT p.G2172S MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGGCGTGACCTGTGGATGCT 0.577 NA 2 0 0 0 0 0 WDR53 348793 broad.mit.edu 37 3 196288262 196288262 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:196288262C>G uc003fwt.2 - 3 556 c.85G>C c.(85-87)GAG>CAG p.E29Q NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 29 WD 1. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TCTCCGCCCTCTGCTCCAGAA 0.542 NA 7 38 0 0 0 0 WDR53 348793 broad.mit.edu 37 3 196288299 196288299 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:196288299C>G uc003fwt.2 - 3 519 c.48G>C c.(46-48)CTG>CTC p.L16L NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 16 WD 1. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TACTTGCATTCAGGCAGAGGA 0.532 NA 9 45 0 0 0 0 C3orf34 84984 broad.mit.edu 37 3 196434703 196434703 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:196434703C>T uc011btw.1 - 3 605 c.223G>A c.(223-225)GAG>AAG p.E75K NM_032898 NP_116287 Q96LK0 CEP19_HUMAN hypothetical protein LOC84984 71 centriole|spindle pole 0 all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00301) AATAGCTTCTCTAGCTGCCTC 0.438 NA 32 155 0 0 0 0 PAK2 5062 broad.mit.edu 37 3 196534686 196534686 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:196534686G>A uc003fwy.3 + 7 932 c.610G>A c.(610-612)GCA>ACA p.A204T NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 204 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCCTGTTCCTGCACCAGTTGG 0.393 NA 8 90 0 0 0 0 SENP5 205564 broad.mit.edu 37 3 196626904 196626904 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr3:196626904C>G uc003fwz.3 + 4 1978 c.1729C>G c.(1729-1731)CTG>GTG p.L577V SENP5_uc011bty.1_Missense_Mutation_p.L577V NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 577 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CCTGGCGACTCTGGATGGTCA 0.383 NA 13 70 0 0 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 4 16 0 0 0 0 TNIP2 79155 broad.mit.edu 37 4 2746559 2746559 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:2746559C>T uc003gfg.2 - 4 858 c.771G>A c.(769-771)ATG>ATA p.M257I TNIP2_uc003gff.2_Missense_Mutation_p.M150I|TNIP2_uc003gfh.2_Intron NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 257 Potential. cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCTCCTTCCTCATCAGCTCGG 0.612 NA 19 72 0 0 0 0 LAP3 51056 broad.mit.edu 37 4 17583385 17583385 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:17583385C>T uc003gph.1 + 3 383 c.221C>T c.(220-222)TCT>TTT p.S74F LAP3_uc010ieg.2_Missense_Mutation_p.S74F NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 74 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 TGTTTTAGATCTGGACCACCT 0.358 NA 12 74 0 0 0 0 GABRB1 2560 broad.mit.edu 37 4 47427752 47427752 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:47427752C>T uc003gxh.2 + 9 1516 c.1142C>T c.(1141-1143)TCG>TTG p.S381L GABRB1_uc011bze.1_Missense_Mutation_p.S311L NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 381 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACGAGTGGCTCGGAAGTGCTC 0.597 NA 10 59 0 0 0 0 CWH43 80157 broad.mit.edu 37 4 49034613 49034613 + Silent SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:49034613G>T uc003gyv.2 + 12 1721 c.1539G>T c.(1537-1539)GTG>GTT p.V513V CWH43_uc011bzl.1_Silent_p.V486V NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 513 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ACCCAATTGTGAAATCTGAGC 0.468 NA 38 204 2.41e-17 2.58e-17 1 0 AASDH 132949 broad.mit.edu 37 4 57244556 57244556 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:57244556G>A uc003hbn.2 - 4 579 c.426C>T c.(424-426)TTC>TTT p.F142F AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Silent_p.F42F|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.F142F|AASDH_uc003hbp.2_Silent_p.F142F NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 142 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AGTGAAGTCTGAAGAGCACTA 0.313 NA 6 49 0 0 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203024 69203024 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:69203024C>T uc003hdx.2 - 4 957 c.604G>A c.(604-606)GAG>AAG p.E202K YTHDC1_uc003hdy.2_Missense_Mutation_p.E202K NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 202 Glu-rich. upper_aerodigestive_tract(1)|ovary(1) 2 actccttcctcctcATTCTCA 0.219 NA 5 35 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79328882 79328882 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:79328882G>C uc003hlb.2 + 31 4635 c.4195G>C c.(4195-4197)GAT>CAT p.D1399H FRAS1_uc003hkw.2_Missense_Mutation_p.D1399H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1398 CSPG 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GCACCTGCCTGATGGGAGGAC 0.587 NA 8 56 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79461904 79461904 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:79461904G>A uc003hlb.2 + 74 12105 c.11665G>A c.(11665-11667)GAG>AAG p.E3889K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3884 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CCTGAATCTGGAGATGCAAGA 0.517 NA 4 22 0 0 0 0 ABCG2 9429 broad.mit.edu 37 4 89052248 89052248 + Missense_Mutation SNP G G C rs1061017 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:89052248G>C uc003hrg.2 - 5 989 c.496C>G c.(496-498)CAA>GAA p.Q166E ABCG2_uc003hrh.2_Missense_Mutation_p.Q166E|ABCG2_uc003hrf.2_Missense_Mutation_p.Q36E NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 166 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCTAACTCTTGAATGACCCTG 0.418 NA 27 161 0 0 0 0 LRIT3 345193 broad.mit.edu 37 4 110791623 110791623 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:110791623G>A uc003hzx.3 + 3 1776 c.1583G>A c.(1582-1584)AGA>AAA p.R528K LRIT3_uc003hzw.3_Missense_Mutation_p.R390K NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 528 Fibronectin type-III. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TCTACTGAAAGAGTTGAAGGA 0.453 NA 17 65 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161431 123161431 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:123161431C>T uc003ieh.2 + 27 4639 c.4594C>T c.(4594-4596)CGT>TGT p.R1532C KIAA1109_uc003iei.1_Missense_Mutation_p.R1285C|KIAA1109_uc010ins.1_Missense_Mutation_p.R875C|KIAA1109_uc003iek.2_Missense_Mutation_p.R151C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1532 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTCATTGCATCGTCCCCTTGA 0.383 NA 15 77 0 0 0 0 RNF150 57484 broad.mit.edu 37 4 142053860 142053860 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:142053860C>G uc003iio.1 - 1 757 c.103G>C c.(103-105)GAG>CAG p.E35Q RNF150_uc010iok.1_Missense_Mutation_p.E35Q|RNF150_uc003iip.1_Missense_Mutation_p.E35Q NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 35 Extracellular (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) TCCTCCTTCTCGGCCACGGTA 0.418 NA 8 44 0 0 0 0 NR3C2 4306 broad.mit.edu 37 4 149357542 149357542 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:149357542C>T uc003ilj.3 - 2 805 c.471G>A c.(469-471)GTG>GTA p.V157V NR3C2_uc003ilk.3_Silent_p.V157V|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 157 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AGGGCGTGTTCACACAACTTA 0.448 NA 16 132 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154553947 154553947 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:154553947G>A uc003inm.3 + 32 4334 c.4282G>A c.(4282-4284)GGC>AGC p.G1428S KIAA0922_uc010ipp.2_Missense_Mutation_p.G1429S|KIAA0922_uc010ipq.2_Missense_Mutation_p.G1197S NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1428 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CCTGGAGAACGGCGTGCCTTG 0.532 NA 11 51 0 0 0 0 FNIP2 57600 broad.mit.edu 37 4 159790180 159790180 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr4:159790180G>C uc003iqe.3 + 13 2575 c.2392G>C c.(2392-2394)GAC>CAC p.D798H NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 798 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTTTGCAGAGGACAGAGGCAG 0.562 NA 13 143 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24537725 24537725 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:24537725C>A uc003jgr.1 - 3 622 c.290G>T c.(289-291)GGA>GTA p.G97V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 97 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGTACCAGCTCCATCTCCAGA 0.363 NA HNSCC(23;0.051) 9 58 7.48e-07 7.87e-07 1 0 RXFP3 51289 broad.mit.edu 37 5 33938124 33938124 + Missense_Mutation SNP G G A rs138975968 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:33938124G>A uc003jic.1 + 1 1636 c.1279G>A c.(1279-1281)GAG>AAG p.E427K NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 427 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GCCGGAGCACGAGGATCAGGG 0.567 NA 6 23 0 0 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122457 36122457 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:36122457G>A uc003jkb.1 - 9 1460 c.1045C>T c.(1045-1047)CAT>TAT p.H349Y NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 349 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAAACTGATGAGTAGCACTA 0.333 NA 10 41 0 0 0 0 GDNF 2668 broad.mit.edu 37 5 37815932 37815932 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:37815932C>G uc011cpi.1 - 3 657 c.457G>C c.(457-459)GAG>CAG p.E153Q GDNF_uc011cpc.1_Missense_Mutation_p.E75Q|GDNF_uc011cpd.1_Missense_Mutation_p.E101Q|GDNF_uc011cpe.1_Missense_Mutation_p.E127Q|GDNF_uc011cpf.1_Missense_Mutation_p.E127Q|GDNF_uc011cpg.1_Missense_Mutation_p.E170Q|GDNF_uc011cph.1_Missense_Mutation_p.E144Q NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 153 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) TACGTTGTCTCAGCTGCATCG 0.443 NA 10 86 0 0 0 0 OSMR 9180 broad.mit.edu 37 5 38883988 38883988 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:38883988G>A uc003jln.1 + 5 845 c.478G>A c.(478-480)GAA>AAA p.E160K OSMR_uc003jlm.1_Missense_Mutation_p.E160K NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 160 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GCTGGTGGAAGAAGGCACCAA 0.363 NA 8 90 0 0 0 0 PARP8 79668 broad.mit.edu 37 5 50091252 50091252 + Splice_Site SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:50091252G>A uc003jon.3 + 13 1610 c.1428_splice c.e13+1 p.A476_splice PARP8_uc011cpz.1_Splice_Site_p.A368_splice|PARP8_uc003joo.2_Splice_Site_p.A476_splice|PARP8_uc003jop.2_Splice_Site_p.A476_splice NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TCAGCTTGCTGTGCGTAAATA 0.393 NA 10 53 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66458527 66458527 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:66458527C>T uc003jut.1 + 27 3379 c.3311C>T c.(3310-3312)TCG>TTG p.S1104L MAST4_uc003juw.2_Missense_Mutation_p.S1032L NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1296 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCCTGTCATCGGGTGAGAGC 0.542 NA 11 86 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66460113 66460113 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:66460113C>T uc003jut.1 + 28 4607 c.4539C>T c.(4537-4539)CTC>CTT p.L1513L MAST4_uc003juw.2_Silent_p.L1441L|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1705 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGGACAACCTCTGCCCTGTGC 0.577 NA 7 24 0 0 0 0 RAD17 5884 broad.mit.edu 37 5 68669684 68669684 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:68669684G>C uc003jwo.2 + 2 132 c.70G>C c.(70-72)GAT>CAT p.D24H RAD17_uc003jwg.2_Missense_Mutation_p.D13H|RAD17_uc003jwh.2_Missense_Mutation_p.D13H|RAD17_uc003jwi.2_Missense_Mutation_p.D13H|RAD17_uc003jwj.2_Missense_Mutation_p.D13H|RAD17_uc003jwk.2_Missense_Mutation_p.D13H|RAD17_uc003jwl.2_Missense_Mutation_p.D13H|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Intron NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 24 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CCCATCATTTGATGATTTTCT 0.358 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 13 73 0 0 0 0 RAD17 5884 broad.mit.edu 37 5 68669849 68669849 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:68669849G>C uc003jwo.2 + 2 297 c.235G>C c.(235-237)GAA>CAA p.E79Q RAD17_uc003jwg.2_Missense_Mutation_p.E68Q|RAD17_uc003jwh.2_Missense_Mutation_p.E68Q|RAD17_uc003jwi.2_Missense_Mutation_p.E68Q|RAD17_uc003jwj.2_Missense_Mutation_p.E68Q|RAD17_uc003jwk.2_Missense_Mutation_p.E68Q|RAD17_uc003jwl.2_Missense_Mutation_p.E68Q|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Intron NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 79 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTATGGTTTAGAAAATTCAAA 0.333 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 8 77 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90041440 90041440 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:90041440G>C uc003kju.2 + 52 10898 c.10802G>C c.(10801-10803)AGA>ACA p.R3601T GPR98_uc003kjt.2_Missense_Mutation_p.R1307T|GPR98_uc003kjv.2_Missense_Mutation_p.R1201T NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3601 Calx-beta 23.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTGGTGAGAGAGAAGCTACA 0.333 NA 12 56 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94849302 94849302 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:94849302G>C uc003klb.2 - 27 3021 c.2751C>G c.(2749-2751)TTC>TTG p.F917L NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 917 binding ovary(3)|pancreas(1) 4 TAGTGTGCCTGAAGAGATCCA 0.338 NA 11 116 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127653955 127653955 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:127653955C>G uc003kuu.2 - 36 5042 c.4603G>C c.(4603-4605)GAG>CAG p.E1535Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1535 EGF-like 26; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCTGCACACTCATCAATATCT 0.423 NA 23 131 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130857157 130857157 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:130857157G>A uc003kvn.1 - 7 759 c.553C>T c.(553-555)CAT>TAT p.H185Y RAPGEF6_uc003kvp.1_Missense_Mutation_p.H235Y|RAPGEF6_uc003kvo.1_Missense_Mutation_p.H185Y|RAPGEF6_uc010jdi.1_Missense_Mutation_p.H185Y|RAPGEF6_uc010jdj.1_Missense_Mutation_p.H185Y|RAPGEF6_uc003kvr.2_Missense_Mutation_p.H185Y|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.H185Y NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 185 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GAAGACACATGAGTCACCTGT 0.383 NA 8 59 0 0 0 0 SLC22A4 6583 broad.mit.edu 37 5 131679482 131679482 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:131679482C>T uc003kwq.2 + 10 1775 c.1610C>T c.(1609-1611)TCA>TTA p.S537L uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 537 Cytoplasmic (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ACAAGAGACTCAATGGAGACA 0.343 NA 6 26 0 0 0 0 PKD2L2 27039 broad.mit.edu 37 5 137271509 137271509 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:137271509G>A uc003lby.2 + 13 1751 c.1695G>A c.(1693-1695)ATG>ATA p.M565I PKD2L2_uc003lbw.1_Missense_Mutation_p.M565I|PKD2L2_uc003lbx.2_Missense_Mutation_p.M464I|PKD2L2_uc011cyi.1_Missense_Mutation_p.M173I NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 565 Cytoplasmic (Potential).|Potential. integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAGAGCAGATGAAAAAATGGA 0.398 NA 6 44 0 0 0 0 ETF1 2107 broad.mit.edu 37 5 137847221 137847221 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:137847221C>G uc003ldc.3 - 7 970 c.805G>C c.(805-807)GAG>CAG p.E269Q ETF1_uc011cyv.1_Missense_Mutation_p.E255Q|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.E236Q|ETF1_uc010jey.1_Missense_Mutation_p.E75Q NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 269 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTAGATAACTCAATAGCTTGG 0.299 NA 8 41 0 0 0 0 SLC4A9 83697 broad.mit.edu 37 5 139745140 139745140 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:139745140G>C uc003lfm.2 + 12 1794 c.1759G>C c.(1759-1761)GAC>CAC p.D587H SLC4A9_uc003lfj.2_Missense_Mutation_p.D563H|SLC4A9_uc011czg.1_Missense_Mutation_p.D563H|SLC4A9_uc003lfl.2_Missense_Mutation_p.D563H|SLC4A9_uc003lfk.2_Missense_Mutation_p.D552H NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 587 Extracellular (Potential).|Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCCAAAAGACAGAGACGA 0.507 NA 7 20 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167978 140167978 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:140167978C>T uc003lhb.2 + 1 2103 c.2103C>T c.(2101-2103)ATC>ATT p.I701I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.I701I NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 701 Helical; (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACCTGATCATCGCCATCT 0.682 NA 19 78 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208515 140208515 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:140208515C>G uc003lho.2 + 1 866 c.839C>G c.(838-840)TCT>TGT p.S280C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S280C|PCDHA6_uc011dab.1_Missense_Mutation_p.S280C NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 280 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTCATATTCTTTTAATAGC 0.388 NA 20 92 0 0 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754586 140754586 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:140754586G>C uc003ljy.1 + 1 936 c.936G>C c.(934-936)TCG>TCC p.S312S 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_uc011dau.1_Silent_p.S312S NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 312 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGACTCGAGTTTTTATG 0.393 NA 32 148 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150897219 150897219 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:150897219G>A uc003lue.3 - 19 11438 c.11425C>T c.(11425-11427)CTT>TTT p.L3809F GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L502F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3809 Extracellular (Potential).|Laminin G-like. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGAATAGAAGAATGGCCTGT 0.552 NA 10 65 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154393878 154393878 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:154393878C>A uc010jih.1 + 1 619 c.459C>A c.(457-459)TGC>TGA p.C153* NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 153 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATCTTCTATGCCCATCTCGTG 0.358 NA 22 145 1.98e-07 2.09e-07 1 0 C5orf41 153222 broad.mit.edu 37 5 172560701 172560701 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:172560701C>T uc003mch.2 + 9 2177 c.1873C>T c.(1873-1875)CCC>TCC p.P625S C5orf41_uc011dfd.1_Missense_Mutation_p.P625S NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 625 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAAGGGAATCCCACTGGAGG 0.443 NA 10 40 0 0 0 0 NKX2-5 1482 broad.mit.edu 37 5 172660137 172660137 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:172660137C>G uc003mcm.1 - 2 586 c.410G>C c.(409-411)CGG>CCG p.R137P NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 137 adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTTCCTCCGCCGTCGCGCCCG 0.692 NA 3 11 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176673765 176673765 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:176673765G>A uc003mfr.3 + 10 4603 c.4465G>A c.(4465-4467)GAT>AAT p.D1489N NSD1_uc003mft.3_Missense_Mutation_p.D1220N|NSD1_uc003mfs.1_Missense_Mutation_p.D1386N|NSD1_uc011dfx.1_Missense_Mutation_p.D1137N NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1489 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGTGAAAAATGATGACTCGTC 0.438 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 13 54 0 0 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179302008 179302008 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr5:179302008C>T uc003mlh.2 - 12 2117 c.2080G>A c.(2080-2082)GAG>AAG p.E694K TBC1D9B_uc003mli.2_Missense_Mutation_p.E694K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E694K|TBC1D9B_uc011dgv.1_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 694 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGATGCCCTCATAGAAAAAG 0.622 NA 10 49 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7559514 7559514 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:7559514C>G uc003mxp.1 + 4 757 c.478C>G c.(478-480)CGA>GGA p.R160G DSP_uc003mxq.1_Missense_Mutation_p.R160G NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 160 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAGTGTCCCTCGAGTCCGCAG 0.507 NA 25 157 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7566622 7566622 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:7566622C>T uc003mxp.1 + 8 1231 c.952C>T c.(952-954)CAA>TAA p.Q318* DSP_uc003mxq.1_Nonsense_Mutation_p.Q318* NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 318 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACGCATGAGTCAACTGGAAGT 0.373 NA 9 63 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7570715 7570715 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:7570715C>T uc003mxp.1 + 13 1899 c.1620C>T c.(1618-1620)CTC>CTT p.L540L DSP_uc003mxq.1_Silent_p.L540L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 540 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGAACCAGCTCTACATCAACA 0.498 NA 24 114 0 0 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124697 26124697 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:26124697C>T uc003ngm.2 + 1 325 c.237C>T c.(235-237)ATC>ATT p.I79I HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Silent_p.I79I NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 79 nucleosome assembly nucleosome|nucleus DNA binding 0 AGACTCGCATCATCCCGCGCC 0.642 NA 21 109 0 0 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413881 26413881 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:26413881G>C uc003nhv.2 + 10 1871 c.1503G>C c.(1501-1503)TTG>TTC p.L501F BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.L449F|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 501 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 TCAGAATTTTGACCTTGGAGC 0.463 NA 18 121 0 0 0 0 BTN2A1 11120 broad.mit.edu 37 6 26463541 26463541 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:26463541C>T uc003nib.1 + 4 712 c.500C>T c.(499-501)TCT>TTT p.S167F BTN2A1_uc003nic.1_Missense_Mutation_p.S167F|BTN2A1_uc003nid.1_Missense_Mutation_p.S15F|BTN2A1_uc011dko.1_Missense_Mutation_p.S106F|BTN2A1_uc010jqk.1_5'Flank NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 167 Extracellular (Potential). lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 GAGTGCATATCTAGAGGGTGG 0.587 NA 9 74 0 0 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839889 27839889 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:27839889G>A uc003njy.2 - 1 211 c.205C>T c.(205-207)CAG>TAG p.Q69* NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 69 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 ACCAAGCGCTGAAAAGGTAGC 0.637 NA 32 92 0 0 0 0 CDSN 1041 broad.mit.edu 37 6 31084503 31084503 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:31084503C>T uc003nsm.1 - 2 916 c.889G>A c.(889-891)GAG>AAG p.E297K PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 297 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 CCCACCACCTCGTAGCCACCA 0.547 NA 5 41 0 0 0 0 HLA-B 3106 broad.mit.edu 37 6 31324665 31324665 + Nonsense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:31324665G>T uc003nth.2 - 2 197 c.143C>A c.(142-144)TCA>TAA p.S48* HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Nonsense_Mutation_p.S48*|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Nonsense_Mutation_p.S20* NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 48 Alpha-1.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 GTAGCCCACTGAGATGAAGCG 0.697 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 8 24 5.18e-06 5.43e-06 1 0 C6orf47 57827 broad.mit.edu 37 6 31627496 31627496 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:31627496C>T uc003nvm.1 - 1 1054 c.229G>A c.(229-231)GAG>AAG p.E77K NM_021184 NP_067007 O95873 CF047_HUMAN G4 protein 77 ovary(1) 1 ACTTGGGGCTCCTCCTTGCTT 0.562 NA 4 48 0 0 0 0 EHMT2 10919 broad.mit.edu 37 6 31856391 31856391 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:31856391C>G uc003nxz.1 - 11 1360 c.1350G>C c.(1348-1350)GAG>GAC p.E450D EHMT2_uc003nxy.1_Missense_Mutation_p.E241D|EHMT2_uc011don.1_Missense_Mutation_p.E473D|EHMT2_uc003nya.1_Missense_Mutation_p.E416D NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 450 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CGTCCACACTCTCAGTGGCCA 0.662 NA 4 31 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32050002 32050002 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:32050002C>T uc003nzl.2 - 9 3749 c.3547G>A c.(3547-3549)GAG>AAG p.E1183K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1270 Fibronectin type-III 5. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AACTGGCCCTCAGGGACAGTC 0.602 NA 5 47 0 0 0 0 ITPR3 3710 broad.mit.edu 37 6 33660549 33660549 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:33660549C>T uc011drk.1 + 55 7722 c.7503C>T c.(7501-7503)TTC>TTT p.F2501F ITPR3_uc003oey.2_Silent_p.F588F NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2501 Helical; (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TCCTGTTCTTCTTCATCGTCA 0.547 NA 17 87 0 0 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839420 34839420 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:34839420G>A uc003oju.3 + 19 4275 c.4041G>A c.(4039-4041)ATG>ATA p.M1347I UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1347 ovary(3) 3 CTCTGGCCATGGAACATGTTG 0.522 NA 10 53 0 0 0 0 MTCH1 23787 broad.mit.edu 37 6 36938202 36938202 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:36938202G>A uc003ond.1 - 10 1002 c.1002C>T c.(1000-1002)CTC>CTT p.L334L MTCH1_uc003onc.1_Silent_p.L317L|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Silent_p.L334L|MTCH1_uc011dtt.1_Silent_p.L149L NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 334 Helical; (Potential). activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 TCACAGCCATGAGGTCGCCAA 0.622 NA 10 52 0 0 0 0 PTK7 5754 broad.mit.edu 37 6 43098331 43098331 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:43098331C>T uc003oub.1 + 5 942 c.744C>T c.(742-744)TTC>TTT p.F248F PTK7_uc003ouc.1_Silent_p.F248F|PTK7_uc003oud.1_Silent_p.F248F|PTK7_uc003oue.1_Silent_p.F248F|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.F256F|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Silent_p.F248F NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 248 Ig-like C2-type 3.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) ATTGCCAGTTCTCAGCCCAGC 0.582 NA 3 32 0 0 0 0 MUT 4594 broad.mit.edu 37 6 49415427 49415427 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:49415427C>T uc003ozg.3 - 8 1771 c.1516G>A c.(1516-1518)GAT>AAT p.D506N NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 506 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAGTATTATCAATTGCCAGA 0.269 NA 13 70 0 0 0 0 C6orf165 154313 broad.mit.edu 37 6 88144769 88144769 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:88144769C>T uc003plv.2 + 11 1584 c.1492C>T c.(1492-1494)CAG>TAG p.Q498* SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Nonsense_Mutation_p.Q310*|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Nonsense_Mutation_p.Q498* NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 498 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TCCATATTCTCAGGTAAGCAG 0.284 NA 6 56 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90472197 90472197 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:90472197C>G uc003pnn.1 - 16 2313 c.2197G>C c.(2197-2199)GAG>CAG p.E733Q MDN1_uc003pno.1_Missense_Mutation_p.E151Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 733 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAGAGTTCCTCAAATGCCTCC 0.423 NA 4 75 0 0 0 0 FBXL4 26235 broad.mit.edu 37 6 99347183 99347183 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:99347183G>A uc003ppf.1 - 6 1636 c.1278C>T c.(1276-1278)TGC>TGT p.C426C FBXL4_uc003ppg.1_Silent_p.C426C|FBXL4_uc003pph.1_Silent_p.C28C|FBXL4_uc010kcp.2_Silent_p.C28C NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 426 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) GTTTAAGGCTGCATAACTTGG 0.378 NA 14 78 0 0 0 0 AIM1 202 broad.mit.edu 37 6 106999740 106999740 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:106999740G>A uc003prh.2 + 12 4589 c.4102G>A c.(4102-4104)GAA>AAA p.E1368K AIM1_uc003pri.2_Missense_Mutation_p.E172K NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1368 Beta/gamma crystallin 'Greek key' 8. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GGTAGCCTATGAAAATCCTGA 0.338 NA 25 159 0 0 0 0 FAM26D 221301 broad.mit.edu 37 6 116879267 116879267 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:116879267C>G uc003pxa.2 + 4 708 c.409C>G c.(409-411)CTT>GTT p.L137V FAM26D_uc003pwz.2_Missense_Mutation_p.L94V|FAM26D_uc010ked.2_Missense_Mutation_p.L136V NM_153036 NP_694581 Q5JW98 FA26D_HUMAN hypothetical protein LOC221301 280 integral to membrane 0 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) AGTACCCACTCTTTTATGCAT 0.423 NA 16 113 0 0 0 0 ZUFSP 221302 broad.mit.edu 37 6 116988128 116988128 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:116988128C>T uc003pxf.1 - 2 474 c.228G>A c.(226-228)AAG>AAA p.K76K ZUFSP_uc010kef.1_Intron NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 76 intracellular zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) TGTTGTCTTTCTTGTTATCTG 0.338 NA 15 83 0 0 0 0 EYA4 2070 broad.mit.edu 37 6 133783787 133783787 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:133783787G>A uc003qec.3 + 9 1067 c.609G>A c.(607-609)AAG>AAA p.K203K EYA4_uc011ecq.1_Silent_p.K149K|EYA4_uc011ecr.1_Silent_p.K149K|EYA4_uc003qed.3_Silent_p.K203K|EYA4_uc003qee.3_Silent_p.K180K|EYA4_uc011ecs.1_Silent_p.K203K|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 203 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGCCATCAAGACAGAGAGTG 0.438 NA 9 56 0 0 0 0 IFNGR1 3459 broad.mit.edu 37 6 137527279 137527279 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:137527279G>A uc003qho.2 - 3 470 c.367C>T c.(367-369)CGA>TGA p.R123* IFNGR1_uc011edm.1_Nonsense_Mutation_p.R95*|IFNGR1_uc011edn.1_Nonsense_Mutation_p.R113* NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 123 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TCACCATCTCGGCATACAGCA 0.348 NA 14 76 0 0 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138202334 138202334 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr6:138202334G>A uc003qhr.2 + 9 2317 c.2251G>A c.(2251-2253)GAG>AAG p.E751K TNFAIP3_uc003qhs.2_Missense_Mutation_p.E751K NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 751 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.E751K(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CCACCGGGGTGAGCCTGCCCC 0.647 NA D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 5 64 0 0 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066763 18066763 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:18066763C>T uc003stz.2 - 1 724 c.643G>A c.(643-645)GTG>ATG p.V215M NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 215 Binding of phosphoribosylpyrophosphate (Potential). nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) AGGATAGCCACACGATCATTC 0.453 NA 23 99 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21781778 21781778 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:21781778C>T uc003svc.2 + 50 8200 c.8169C>T c.(8167-8169)GTC>GTT p.V2723V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2723 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TATCAAACGTCTTCCAGGTAC 0.294 NA Kartagener_syndrome 13 45 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37989863 37989863 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:37989863C>A uc003tfp.2 + 3 919 c.900C>A c.(898-900)ACC>ACA p.T300T EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Silent_p.T119T NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 180 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 AAACCTTTACCATAAACTACA 0.428 NA 4 41 0.00116845 0.00119389 1 0 VPS41 27072 broad.mit.edu 37 7 38796440 38796440 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:38796440C>G uc003tgy.2 - 19 1719 c.1693G>C c.(1693-1695)GAG>CAG p.E565Q VPS41_uc003tgz.2_Missense_Mutation_p.E540Q|VPS41_uc010kxn.2_Missense_Mutation_p.E476Q NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 565 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CACATTACCTCTGAATCAAAA 0.269 NA 3 20 0 0 0 0 ZNF713 349075 broad.mit.edu 37 7 56007242 56007242 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:56007242G>A uc003trc.1 + 4 874 c.836G>A c.(835-837)GGA>GAA p.G279E ZNF713_uc003tra.1_Missense_Mutation_p.G292E|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 279 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GATGAATGTGGAAAAAGATTC 0.458 NA 8 52 0 0 0 0 PTPN12 5782 broad.mit.edu 37 7 77256781 77256781 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:77256781C>T uc003ugh.2 + 13 1876 c.1785C>T c.(1783-1785)CTC>CTT p.L595L PTPN12_uc011kgp.1_Silent_p.L476L|PTPN12_uc011kgq.1_Silent_p.L465L|PTPN12_uc010lds.2_Silent_p.L327L NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 595 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 GAACACCCCTCAGTTTTACTA 0.403 NA 19 160 0 0 0 0 STEAP2 261729 broad.mit.edu 37 7 89856767 89856767 + Missense_Mutation SNP G G C rs151250725 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:89856767G>C uc003ujz.2 + 3 1368 c.975G>C c.(973-975)ATG>ATC p.M325I STEAP2_uc003ujy.2_Missense_Mutation_p.M367I|STEAP2_uc010len.2_Missense_Mutation_p.M325I|STEAP2_uc003uka.2_Missense_Mutation_p.M325I|STEAP2_uc003ukb.2_Missense_Mutation_p.M325I|STEAP2_uc003ukc.2_Missense_Mutation_p.M325I|STEAP2_uc003ukd.2_Missense_Mutation_p.M325I NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 325 Ferric oxidoreductase.|Helical; (Potential). electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) GCTTACCGATGAGAAGGTCAG 0.383 NA 10 40 0 0 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838091 92838091 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:92838091C>T uc003umm.2 - 4 837 c.814G>A c.(814-816)GCT>ACT p.A272T HEPACAM2_uc003uml.2_Missense_Mutation_p.A260T|HEPACAM2_uc010lff.2_Missense_Mutation_p.A260T|HEPACAM2_uc011khy.1_Missense_Mutation_p.A295T NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 272 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 TGAGAATCAGCAGAACAATCA 0.433 NA 14 78 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100344231 100344231 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:100344231G>A uc003uwj.2 + 8 1002 c.837G>A c.(835-837)GTG>GTA p.V279V ZAN_uc003uwk.2_Silent_p.V279V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 279 MAM 2.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGAGCCCCGTGAGCCTGTCCT 0.572 NA 9 95 0 0 0 0 C7orf52 375607 broad.mit.edu 37 7 100816658 100816658 + Silent SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:100816658C>A uc003uxy.1 - 3 695 c.456G>T c.(454-456)CCG>CCT p.P152P C7orf52_uc003uxz.1_Silent_p.P152P NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 152 N-acetyltransferase. N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) CCTTGACCCCCGGGTGCTGTC 0.687 NA 14 42 7.93e-07 8.34e-07 1 0 CUX1 1523 broad.mit.edu 37 7 101844841 101844841 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:101844841C>G uc003uyx.3 + 18 2302 c.2264C>G c.(2263-2265)TCC>TGC p.S755C CUX1_uc003uys.3_Missense_Mutation_p.S766C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 755 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CCCACCGTGTCCAGCTACCCA 0.647 NA 21 110 0 0 0 0 NRCAM 4897 broad.mit.edu 37 7 107822288 107822288 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:107822288C>T uc003vfb.2 - 24 3095 c.2624G>A c.(2623-2625)CGA>CAA p.R875Q NRCAM_uc003vfc.2_Missense_Mutation_p.R859Q|NRCAM_uc011kmk.1_Missense_Mutation_p.R870Q|NRCAM_uc003vfd.2_Missense_Mutation_p.R851Q|NRCAM_uc003vfe.2_Missense_Mutation_p.R851Q NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 875 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TAGGTGTCCTCGGATGCTTTT 0.527 NA 11 38 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133041328 133041328 + Splice_Site SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:133041328G>A uc003vrk.2 + 6 1042 c.1007_splice c.e6+1 p.R336_splice EXOC4_uc011kpo.1_Splice_Site_p.R235_splice|EXOC4_uc003vri.2_Splice_Site_p.R336_splice|EXOC4_uc003vrj.2_Splice_Site_p.R336_splice NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) ACCAACCAAGGTAGGTGGGAG 0.448 NA 3 32 0 0 0 0 WEE2 494551 broad.mit.edu 37 7 141422958 141422958 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:141422958C>T uc003vwn.2 + 6 1311 c.905C>T c.(904-906)TCT>TTT p.S302F FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 302 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GCTGCTATATCTGAAAACACT 0.383 NA 20 105 0 0 0 0 SMARCD3 6604 broad.mit.edu 37 7 150936782 150936782 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr7:150936782G>C uc003wjs.2 - 11 1325 c.1224C>G c.(1222-1224)TTC>TTG p.F408L SMARCD3_uc003wjt.2_Missense_Mutation_p.F395L|SMARCD3_uc003wju.2_Missense_Mutation_p.F395L NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 408 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTTAGCATGAAGTCCCTCT 0.532 NA 21 98 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2836257 2836257 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:2836257C>T uc011kwk.1 - 55 8836 c.8446G>A c.(8446-8448)GAG>AAG p.E2816K CSMD1_uc011kwj.1_Missense_Mutation_p.E2145K|CSMD1_uc010lrg.2_Missense_Mutation_p.E826K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2816 Extracellular (Potential).|Sushi 20. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCAAAACTCTCAGGGAAGTTC 0.423 NA 3 16 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10470341 10470341 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:10470341G>A uc003wtc.2 - 4 1496 c.1267C>T c.(1267-1269)CGG>TGG p.R423W NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 423 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CACCTCTTCCGAGCTGCCACT 0.667 NA 13 38 0 0 0 0 AMAC1L2 83650 broad.mit.edu 37 8 11188898 11188898 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:11188898C>T uc003wtp.1 + 1 404 c.283C>T c.(283-285)CTG>TTG p.L95L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 95 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CGACCCCCTTCTGGGACCTCC 0.602 NA 35 237 0 0 0 0 SLC7A2 6542 broad.mit.edu 37 8 17419529 17419529 + Silent SNP C C T rs139462829 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:17419529C>T uc011kyc.1 + 10 1750 c.1581C>T c.(1579-1581)CTC>CTT p.L527L SLC7A2_uc011kyd.1_Silent_p.L566L|SLC7A2_uc011kye.1_Silent_p.L567L|SLC7A2_uc011kyf.1_Silent_p.L527L NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 527 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CCTGGAGCCTCGCTCTCCTCG 0.532 NA 21 70 0 0 0 0 MTUS1 57509 broad.mit.edu 37 8 17613142 17613142 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:17613142C>G uc003wxv.2 - 2 649 c.175G>C c.(175-177)GAA>CAA p.E59Q MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E59Q|MTUS1_uc010lsz.2_Missense_Mutation_p.E59Q NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 59 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GGGTCAGTTTCATAATCAACC 0.403 NA 28 168 0 0 0 0 DOK2 9046 broad.mit.edu 37 8 21767244 21767244 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:21767244G>A uc003wzy.1 - 5 910 c.817C>T c.(817-819)CGG>TGG p.R273W DOK2_uc003wzx.1_Missense_Mutation_p.R273W|DOK2_uc003wzz.1_Missense_Mutation_p.R119W|DOK2_uc010lth.1_Missense_Mutation_p.R119W NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 273 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCATGCGGCCGAGAGTAGGGG 0.682 NA 6 59 0 0 0 0 LOXL2 4017 broad.mit.edu 37 8 23167319 23167319 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:23167319G>A uc003xdh.1 - 10 2081 c.1742C>T c.(1741-1743)TCG>TTG p.S581L LOXL2_uc010lty.1_Missense_Mutation_p.S120L NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 581 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GGCTGAGGCCGAGAGGCAGTT 0.647 NA 5 25 0 0 0 0 LOXL2 4017 broad.mit.edu 37 8 23174627 23174627 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:23174627C>G uc003xdh.1 - 9 1810 c.1471G>C c.(1471-1473)GAG>CAG p.E491Q LOXL2_uc010lty.1_Missense_Mutation_p.E30Q NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 491 SRCR 4. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TACCAGGTCTCCTGGAAGAAC 0.388 NA 33 125 0 0 0 0 HTRA4 203100 broad.mit.edu 37 8 38840029 38840029 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:38840029C>T uc003xmj.2 + 7 1242 c.1127C>T c.(1126-1128)TCA>TTA p.S376L NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 376 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AAGGCGTTTTCAAATAAGAAA 0.423 NA 6 56 0 0 0 0 SFRP1 6422 broad.mit.edu 37 8 41161008 41161008 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:41161008G>C uc003xnt.2 - 2 896 c.594C>G c.(592-594)ATC>ATG p.I198M NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 198 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GATGTTCAATGATGGCCTCAG 0.527 NA 11 36 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68131668 68131668 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:68131668C>T uc003xxo.1 - 30 4726 c.4336G>A c.(4336-4338)GAG>AAG p.E1446K ARFGEF1_uc003xxl.1_Missense_Mutation_p.E900K|ARFGEF1_uc003xxn.1_Missense_Mutation_p.E429K NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1446 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCTCTTACCTCTGTCTGTTGT 0.308 NA 3 36 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69058533 69058533 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:69058533C>G uc003xxv.1 + 34 4204 c.4177C>G c.(4177-4179)CAA>GAA p.Q1393E NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1393 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACAACTTCCTCAACGGCTGAA 0.338 NA 8 46 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73850115 73850115 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:73850115G>A uc003xzb.2 + 3 3113 c.2525G>A c.(2524-2526)AGA>AAA p.R842K NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 842 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AGTGATGGGAGAGACCCTTTA 0.527 NA 10 71 0 0 0 0 ZNF704 619279 broad.mit.edu 37 8 81577163 81577163 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:81577163C>G uc003yby.1 - 6 1046 c.814G>C c.(814-816)GAT>CAT p.D272H NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 272 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CGGCTTGAATCTGGGATGGGG 0.577 NA 19 107 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100147838 100147838 + Silent SNP C C T rs141324814 byFrequency TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:100147838C>T uc003yiv.2 + 11 1551 c.1440C>T c.(1438-1440)TTC>TTT p.F480F VPS13B_uc003yiw.2_Silent_p.F480F|VPS13B_uc003yit.2_Silent_p.F480F|VPS13B_uc003yiu.1_Silent_p.F480F|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 480 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTGTTTCTTCATTTGTGGTG 0.333 NA 6 39 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100523503 100523503 + Nonsense_Mutation SNP G G T rs120074151 TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:100523503G>T uc003yiv.2 + 29 4582 c.4471G>T c.(4471-4473)GAA>TAA p.E1491* VPS13B_uc003yiw.2_Nonsense_Mutation_p.E1466*|VPS13B_uc003yix.1_Nonsense_Mutation_p.E961* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1491 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTTTCTTCATGAAATTCTTCT 0.333 NA 12 62 0.000978159 0.00100257 1 0 NCALD 83988 broad.mit.edu 37 8 102731491 102731491 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:102731491C>G uc003yke.2 - 2 736 c.367G>C c.(367-369)GAG>CAG p.E123Q NCALD_uc003ykf.2_Missense_Mutation_p.E123Q|NCALD_uc003ykg.2_Missense_Mutation_p.E123Q|NCALD_uc003ykh.2_Missense_Mutation_p.E123Q|NCALD_uc003yki.2_Missense_Mutation_p.E123Q|NCALD_uc003ykj.2_Missense_Mutation_p.E123Q|NCALD_uc003ykk.2_Missense_Mutation_p.E123Q|NCALD_uc003ykl.2_Missense_Mutation_p.E123Q NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 123 EF-hand 3. E -> V (in Ref. 2; CAB66547). synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) TGCACGATCTCTAGCATCTCT 0.463 NA 17 100 0 0 0 0 ABRA 137735 broad.mit.edu 37 8 107782097 107782097 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:107782097C>G uc003ymm.3 - 1 376 c.322G>C c.(322-324)GAG>CAG p.E108Q NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 108 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTGGACACCTCTTTCTTTTTG 0.552 NA 6 137 0 0 0 0 NUDCD1 84955 broad.mit.edu 37 8 110293297 110293297 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:110293297G>A uc003ynb.3 - 6 1039 c.928C>T c.(928-930)CAC>TAC p.H310Y NUDCD1_uc003yna.2_Missense_Mutation_p.H281Y|NUDCD1_uc010mcl.2_Missense_Mutation_p.H223Y|NUDCD1_uc010mcm.1_Missense_Mutation_p.H223Y NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 310 CS. ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) ATGTTGATGTGATCAGGCAAA 0.363 NA 10 45 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110497290 110497290 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:110497290G>C uc003yne.2 + 58 9698 c.9594G>C c.(9592-9594)GTG>GTC p.V3198V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3198 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAGAGATTGTGATAACAACCA 0.294 NA HNSCC(38;0.096) 9 48 0 0 0 0 RAD21 5885 broad.mit.edu 37 8 117874120 117874120 + Nonsense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:117874120C>A uc003yod.2 - 4 622 c.334G>T c.(334-336)GAA>TAA p.E112* NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 112 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TGAAATTCTTCAGGTAAAGTA 0.378 NA 29 144 8.58e-18 9.21e-18 1 0 SLC30A8 169026 broad.mit.edu 37 8 118183390 118183390 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:118183390C>T uc003yoh.2 + 7 1177 c.947C>T c.(946-948)TCA>TTA p.S316L SLC30A8_uc010mcz.2_Missense_Mutation_p.S267L|SLC30A8_uc011lia.1_Missense_Mutation_p.S267L|SLC30A8_uc003yog.2_Missense_Mutation_p.S267L NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 316 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GTAATTCTCTCAGCTCATGTT 0.423 NA 15 85 0 0 0 0 COLEC10 10584 broad.mit.edu 37 8 120118062 120118062 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:120118062G>A uc003yoo.2 + 6 563 c.466G>A c.(466-468)GAA>AAA p.E156K NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 156 C-type lectin. collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TAGGGAAACTGAAGAGAAATT 0.428 NA 4 26 0 0 0 0 ZHX2 22882 broad.mit.edu 37 8 123965799 123965799 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:123965799G>A uc003ypk.1 + 3 2616 c.2049G>A c.(2047-2049)CTG>CTA p.L683L NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 683 Homeobox 4. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GATGCTTGCTGAAAACGGGAA 0.557 NA 5 51 0 0 0 0 ZHX2 22882 broad.mit.edu 37 8 123965807 123965807 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:123965807G>C uc003ypk.1 + 3 2624 c.2057G>C c.(2056-2058)GGA>GCA p.G686A NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 686 Homeobox 4. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CTGAAAACGGGAACCGTGAAG 0.557 NA 5 52 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144941998 144941998 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:144941998G>A uc003zaa.1 - 1 5437 c.5424C>T c.(5422-5424)GAC>GAT p.D1808D NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1808 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGCTTCCTGTCCTCTGTGA 0.527 NA 16 71 0 0 0 0 SPATC1 375686 broad.mit.edu 37 8 145096263 145096263 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr8:145096263G>C uc011lkw.1 + 4 1539 c.1437G>C c.(1435-1437)AAG>AAC p.K479N SPATC1_uc011lkx.1_Intron NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 479 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCAGAGAAGATCATCCAGG 0.632 NA 6 25 0 0 0 0 UHRF2 115426 broad.mit.edu 37 9 6506134 6506134 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:6506134G>A uc003zjy.2 + 16 2704 c.2364G>A c.(2362-2364)CAG>CAA p.Q788Q UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 788 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) AGATTCTGCAGACTCTACTTG 0.463 NA 5 100 0 0 0 0 MTAP 4507 broad.mit.edu 37 9 21854777 21854777 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:21854777C>T uc003zph.2 + 6 711 c.598C>T c.(598-600)CCA>TCA p.P200S MTAP_uc003zpi.1_Intron|MTAP_uc010mit.2_RNA|MTAP_uc011lnk.1_Missense_Mutation_p.P217S|MTAP_uc011lnl.1_Missense_Mutation_p.P133S NM_002451 NP_002442 Q13126 MTAP_HUMAN 5'-methylthioadenosine phosphorylase 200 nucleoside metabolic process cytoplasm phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity central_nervous_system(1) 1 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) GACCACAGTTCCAGAGGTGGT 0.537 NA 9 58 0 0 0 0 GBA2 57704 broad.mit.edu 37 9 35739738 35739738 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:35739738C>G uc003zxw.2 - 9 1993 c.1469G>C c.(1468-1470)GGA>GCA p.G490A GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.G490A|GBA2_uc011lpc.1_Missense_Mutation_p.G490A|GBA2_uc011lpd.1_Missense_Mutation_p.G496A|GBA2_uc003zxy.1_Missense_Mutation_p.G203A NM_020944 NP_065995 Q9HCG7 GBA2_HUMAN bile acid beta-glucosidase 490 Extracellular (Potential). bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity ovary(3)|skin(1) 4 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACTGTGCCTCCATCAGCCAG 0.532 NA 7 41 0 0 0 0 GBA2 57704 broad.mit.edu 37 9 35741858 35741858 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:35741858C>G uc003zxw.2 - 4 1121 c.597G>C c.(595-597)CAG>CAC p.Q199H GBA2_uc011lpb.1_Missense_Mutation_p.Q199H|GBA2_uc011lpc.1_Missense_Mutation_p.Q199H|GBA2_uc011lpd.1_Missense_Mutation_p.Q205H|GBA2_uc003zxy.1_5'UTR NM_020944 NP_065995 Q9HCG7 GBA2_HUMAN bile acid beta-glucosidase 199 Extracellular (Potential). bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity ovary(3)|skin(1) 4 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGTACACAGTCTGCCCTTCCC 0.567 NA 3 38 0 0 0 0 NPR2 4882 broad.mit.edu 37 9 35806507 35806507 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:35806507G>A uc003zyd.2 + 16 2491 c.2491G>A c.(2491-2493)GAA>AAA p.E831K NPR2_uc010mlb.2_Missense_Mutation_p.E807K NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 831 Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ACGCAAGGCTGAAGCTCTGCT 0.517 NA 17 78 0 0 0 0 OR13J1 392309 broad.mit.edu 37 9 35870019 35870019 + Missense_Mutation SNP C C A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:35870019C>A uc011lph.1 - 1 380 c.380G>T c.(379-381)TGC>TTC p.C127F NM_001004487 NP_001004487 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GAGTGGCTGGCAGATGGCCAG 0.617 NA 10 42 7.48e-07 7.87e-07 1 0 CLTA 1211 broad.mit.edu 37 9 36211652 36211652 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:36211652G>A uc003zzc.2 + 7 790 c.628G>A c.(628-630)GAG>AAG p.E210K CLTA_uc003zzd.2_Missense_Mutation_p.E198K|CLTA_uc003zze.2_Missense_Mutation_p.E180K|CLTA_uc011lpk.1_Missense_Mutation_p.E192K|CLTA_uc003zzf.1_Intron NM_007096 NP_009027 P09496 CLCA_HUMAN clathrin, light polypeptide A isoform b 210 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) CCCAGGCACTGAGTGGGAACG 0.527 NA 14 115 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77354768 77354768 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:77354768G>A uc004ajl.1 - 34 5596 c.5358C>T c.(5356-5358)GTC>GTT p.V1786V TRPM6_uc004ajk.1_Silent_p.V1781V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.V737V|TRPM6_uc010mpd.1_Silent_p.V619V|TRPM6_uc010mpe.1_Silent_p.V333V|TRPM6_uc004ajj.1_Silent_p.V742V NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1786 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ACCAAGTGCTGACGACTCTCA 0.512 NA 20 109 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88193845 88193845 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:88193845C>T uc011ltd.1 - 23 3365 c.3332G>A c.(3331-3333)GGA>GAA p.G1111E AGTPBP1_uc004aod.3_Missense_Mutation_p.G737E|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.G1071E|AGTPBP1_uc011lte.1_Missense_Mutation_p.G1123E NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1111 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CTTGTATTTTCCCTGATCACA 0.323 NA 18 126 0 0 0 0 C9orf3 84909 broad.mit.edu 37 9 97844977 97844977 + Missense_Mutation SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:97844977G>T uc004ava.2 + 15 2575 c.2440G>T c.(2440-2442)GTG>TTG p.V814L C9orf3_uc004auy.2_Missense_Mutation_p.V715L|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.V176L|C9orf3_uc011luk.1_Missense_Mutation_p.V155L|C9orf3_uc004avd.2_Missense_Mutation_p.V176L|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 814 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGCCCAGGTGGTGGCCGAAAT 0.517 NA 13 50 4.38e-07 4.62e-07 1 0 PTCH1 5727 broad.mit.edu 37 9 98242295 98242295 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:98242295C>G uc004avk.3 - 7 1211 c.1023G>C c.(1021-1023)TTG>TTC p.L341F PTCH1_uc010mro.2_Missense_Mutation_p.L190F|PTCH1_uc010mrp.2_Missense_Mutation_p.L190F|PTCH1_uc010mrq.2_Missense_Mutation_p.L190F|PTCH1_uc004avl.3_Missense_Mutation_p.L190F|PTCH1_uc010mrr.2_Missense_Mutation_p.L275F|PTCH1_uc004avm.3_Missense_Mutation_p.L340F|PTCH1_uc010mrs.1_Missense_Mutation_p.L61F NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 341 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.L341F(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CACCCACAATCAACTCCTCCT 0.458 NA Basal_Cell_Nevus_syndrome 30 110 0 0 0 0 FOXE1 2304 broad.mit.edu 37 9 100616544 100616544 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:100616544C>G uc004axu.2 + 1 1008 c.348C>G c.(346-348)CGC>CGG p.R116R NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 116 Fork-head. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Acute lymphoblastic leukemia(62;0.158) AGATCCCGCGCGAGGCCGGCC 0.637 NA 8 64 0 0 0 0 TRIM14 9830 broad.mit.edu 37 9 100872212 100872212 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:100872212C>T uc004ayd.2 - 2 280 c.262G>A c.(262-264)GAC>AAC p.D88N TRIM14_uc004ayf.1_5'UTR|TRIM14_uc004ayg.1_Missense_Mutation_p.D88N|TRIM14_uc004ayh.1_Missense_Mutation_p.D88N|TRIM14_uc004ayi.1_Missense_Mutation_p.D88N|TRIM14_uc004ayj.1_5'UTR NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 88 Potential. cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) GTTATGTTGTCAATGTGCTGC 0.448 NA 25 207 0 0 0 0 ERP44 23071 broad.mit.edu 37 9 102784444 102784444 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:102784444C>T uc004bam.2 - 5 559 c.351G>A c.(349-351)ATG>ATA p.M117I ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.M117I NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 117 Thioredoxin. cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 TCTTCATCATCATCCCATTAC 0.393 NA 12 115 0 0 0 0 AKNA 80709 broad.mit.edu 37 9 117120255 117120255 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:117120255G>C uc004biq.3 - 11 2820 c.2685C>G c.(2683-2685)ATC>ATG p.I895M AKNA_uc004bin.3_Missense_Mutation_p.I142M|AKNA_uc004bio.3_Missense_Mutation_p.I355M|AKNA_uc004bip.3_Missense_Mutation_p.I814M|AKNA_uc004bir.3_Missense_Mutation_p.I895M|AKNA_uc004bis.3_Missense_Mutation_p.I895M|AKNA_uc010mve.2_Missense_Mutation_p.I776M NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 GGCGCTCAGAGATGCCGCTTC 0.642 NA 10 65 0 0 0 0 OR1L3 26735 broad.mit.edu 37 9 125438029 125438029 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:125438029G>A uc011lzb.1 + 1 621 c.621G>A c.(619-621)GTG>GTA p.V207V NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGCCTCTGTGATGGCTCCAT 0.453 NA 29 120 0 0 0 0 RABGAP1 23637 broad.mit.edu 37 9 125865491 125865491 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:125865491G>A uc011lzh.1 + 26 3343 c.3209G>A c.(3208-3210)TGA>TAA p.*1070* RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Silent_p.*409* NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 1070 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 GAGACTTGCTGAGAGCAGCTG 0.522 NA OREG0019466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 73 0 0 0 0 HSPA5 3309 broad.mit.edu 37 9 127999008 127999008 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:127999008C>T uc004bpn.2 - 8 2084 c.1828G>A c.(1828-1830)GAT>AAT p.D610N NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 610 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) ATGTCAGCATCTTGGTGGCTT 0.423 NA Prostate(1;0.17) 16 127 0 0 0 0 HSPA5 3309 broad.mit.edu 37 9 128001040 128001040 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:128001040C>T uc004bpn.2 - 6 1319 c.1063G>A c.(1063-1065)GAT>AAT p.D355N NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 355 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) TCATCAATATCAGACTTCTTC 0.418 NA Prostate(1;0.17) 15 57 0 0 0 0 HSPA5 3309 broad.mit.edu 37 9 128001050 128001050 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:128001050C>T uc004bpn.2 - 6 1309 c.1053G>A c.(1051-1053)TTG>TTA p.L351L NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 351 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) CAGACTTCTTCAAATCAGAAT 0.393 NA Prostate(1;0.17) 16 51 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388879 131388879 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:131388879G>C uc004bvl.3 + 48 6587 c.6474G>C c.(6472-6474)AAG>AAC p.K2158N SPTAN1_uc004bvm.3_Missense_Mutation_p.K2163N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K2138N|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2158 Spectrin 22. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCCAGATCAAGAGCTTCCGCG 0.597 NA 9 32 0 0 0 0 NCS1 23413 broad.mit.edu 37 9 132984969 132984969 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:132984969C>G uc004bzi.2 + 5 434 c.348C>G c.(346-348)ATC>ATG p.I116M NCS1_uc010myz.1_Missense_Mutation_p.I98M NM_014286 NP_055101 P62166 NCS1_HUMAN frequenin homolog isoform 1 116 EF-hand 3.|2. negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding 0 ATGGCTACATCACCAGGAATG 0.562 NA 11 57 0 0 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134473643 134473643 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:134473643G>A uc004cbc.2 - 13 2128 c.1998C>T c.(1996-1998)GAC>GAT p.D666D RAPGEF1_uc004cbb.2_Silent_p.D684D|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.D841D|RAPGEF1_uc004cbd.2_Silent_p.D671D|RAPGEF1_uc010mzs.1_Silent_p.D198D|RAPGEF1_uc010mzl.1_Silent_p.D164D|RAPGEF1_uc010mzo.1_3'UTR|RAPGEF1_uc010mzp.1_Silent_p.D143D|RAPGEF1_uc010mzq.1_Silent_p.D250D|RAPGEF1_uc010mzr.1_Silent_p.D251D NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 666 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GGGACAGCTCGTCCACTTCCT 0.592 NA 8 22 0 0 0 0 NTNG2 84628 broad.mit.edu 37 9 135073644 135073644 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:135073644G>A uc004cbh.2 + 3 1281 c.505G>A c.(505-507)GAG>AAG p.E169K NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 169 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GTTCTACGCCGAGGACTGCAT 0.672 NA 6 19 0 0 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323096 136323096 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:136323096G>A uc004cdv.3 + 28 4401 c.3957G>A c.(3955-3957)ACG>ACA p.T1319T ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.T1263T|ADAMTS13_uc004cdu.1_Silent_p.T1232T|ADAMTS13_uc004cdw.3_Silent_p.T1263T|ADAMTS13_uc004cdx.3_Silent_p.T1232T|ADAMTS13_uc004cdz.3_Silent_p.T989T|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Silent_p.T115T|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1319 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTCCAGCCACGAGTAATGCAG 0.607 NA 4 69 0 0 0 0 VAV2 7410 broad.mit.edu 37 9 136629201 136629201 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:136629201C>T uc004ces.2 - 30 2666 c.2620G>A c.(2620-2622)GAG>AAG p.E874K VAV2_uc004cer.2_Missense_Mutation_p.E835K NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 874 SH3 2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) ATGCCCTCCTCTTCTACGTAC 0.433 NA 5 42 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391123 139391123 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:139391123G>A uc004chz.2 - 34 7068 c.7068C>T c.(7066-7068)GCC>GCT p.A2356A NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2356 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACAGGGCGCTGGCAGCAAGGC 0.672 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 10 62 0 0 0 0 FAM166A 401565 broad.mit.edu 37 9 140139845 140139845 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:140139845C>T uc004cmi.1 - 3 491 c.436G>A c.(436-438)GAC>AAC p.D146N NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 146 ovary(1) 1 TCTCTGGAGTCTCCCTTCCTG 0.652 NA 7 74 0 0 0 0 COBRA1 25920 broad.mit.edu 37 9 140150496 140150496 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr9:140150496C>G uc004cmm.3 + 2 443 c.240C>G c.(238-240)ATC>ATG p.I80M NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 80 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) TGTCAGCCATCGCTTCGGAGG 0.642 NA 14 81 0 0 0 0 ARSE 415 broad.mit.edu 37 X 2878422 2878422 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:2878422G>A uc004crc.3 - 2 270 c.20C>T c.(19-21)TCT>TTT p.S7F ARSE_uc011mhi.1_Missense_Mutation_p.S7F|ARSE_uc011mhh.1_5'UTR NM_000047 NP_000038 P51690 ARSE_HUMAN arylsulfatase E precursor 7 skeletal system development Golgi stack arylsulfatase activity|metal ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATCTTACCAAGAATGGTGCAG 0.244 NA 11 21 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18956826 18956826 + Silent SNP G G T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:18956826G>T uc004cyv.3 - 10 1390 c.960C>A c.(958-960)CTC>CTA p.L320L NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 320 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TGTTTTCGAAGAGCTTGAGTT 0.383 NA 15 35 1.03e-11 1.1e-11 1 0 DDX3X 1654 broad.mit.edu 37 X 41206168 41206168 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:41206168G>C uc004dfe.2 + 15 2527 c.1672G>C c.(1672-1674)GAT>CAT p.D558H DDX3X_uc004dff.2_Missense_Mutation_p.D558H|DDX3X_uc011mkq.1_Missense_Mutation_p.D542H|DDX3X_uc011mkr.1_Missense_Mutation_p.D428H|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 558 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 GGATTTGTTGGATCTTCTTGT 0.393 NA HNSCC(61;0.18) 15 24 0 0 0 0 DDX3X 1654 broad.mit.edu 37 X 41206210 41206210 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:41206210G>C uc004dfe.2 + 15 2569 c.1714G>C c.(1714-1716)GAA>CAA p.E572Q DDX3X_uc004dff.2_Missense_Mutation_p.E572Q|DDX3X_uc011mkq.1_Missense_Mutation_p.E556Q|DDX3X_uc011mkr.1_Missense_Mutation_p.E442Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 572 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 GTCTTGGTTAGAAAACATGGC 0.403 NA HNSCC(61;0.18) 16 22 0 0 0 0 NONO 4841 broad.mit.edu 37 X 70514197 70514197 + Nonsense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:70514197C>T uc004dzo.2 + 6 1179 c.469C>T c.(469-471)CAG>TAG p.Q157* BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.Q157*|NONO_uc004dzp.2_Nonsense_Mutation_p.Q157*|NONO_uc011mpv.1_Nonsense_Mutation_p.Q68*|NONO_uc004dzq.2_Nonsense_Mutation_p.Q26* NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 157 RRM 2.|DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) AAACCTTCCTCAGTATGTGTC 0.517 NA T TFE3 papillary renal cancer 16 41 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79980560 79980560 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:79980560C>T uc004edt.2 - 15 1656 c.1393G>A c.(1393-1395)GAT>AAT p.D465N BRWD3_uc004edo.2_Missense_Mutation_p.D61N|BRWD3_uc004edp.2_Missense_Mutation_p.D294N|BRWD3_uc004edq.2_Missense_Mutation_p.D61N|BRWD3_uc010nmj.1_Missense_Mutation_p.D61N|BRWD3_uc004edr.2_Missense_Mutation_p.D135N|BRWD3_uc004eds.2_Missense_Mutation_p.D61N|BRWD3_uc004edu.2_Missense_Mutation_p.D135N|BRWD3_uc004edv.2_Missense_Mutation_p.D61N|BRWD3_uc004edw.2_Missense_Mutation_p.D61N|BRWD3_uc004edx.2_Missense_Mutation_p.D61N|BRWD3_uc004edy.2_Missense_Mutation_p.D61N|BRWD3_uc004edz.2_Missense_Mutation_p.D135N|BRWD3_uc004eea.2_Missense_Mutation_p.D135N|BRWD3_uc004eeb.2_Missense_Mutation_p.D61N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 465 WD 8. ovary(4) 4 ACTTCATCATCATGTCCCTAT 0.373 NA 11 21 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79989634 79989634 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:79989634C>T uc004edt.2 - 11 1332 c.1069G>A c.(1069-1071)GAA>AAA p.E357K BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.E186K|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Missense_Mutation_p.E27K|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Missense_Mutation_p.E27K|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_Missense_Mutation_p.E27K|BRWD3_uc004eea.2_Missense_Mutation_p.E27K|BRWD3_uc004eeb.2_5'UTR NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 357 ovary(4) 4 GACTCTAATTCAGCAATTTTC 0.338 NA 20 46 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86890739 86890739 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:86890739C>T uc004efb.2 + 9 2071 c.1889C>T c.(1888-1890)TCC>TTC p.S630F KLHL4_uc004efa.2_Missense_Mutation_p.S630F NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 630 Kelch 5. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCCCCTGCTTCCAACCATTGC 0.403 NA 12 27 0 0 0 0 BTK 695 broad.mit.edu 37 X 100604914 100604914 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:100604914G>A uc004ehg.2 - 19 2132 c.1939C>T c.(1939-1941)CTT>TTT p.L647F TIMM8A_uc004ehd.2_5'Flank|TIMM8A_uc011mri.1_5'Flank|BTK_uc004ehf.2_Missense_Mutation_p.L147F|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.L123F|BTK_uc010nnm.2_Missense_Mutation_p.L206F|BTK_uc010nnn.2_Missense_Mutation_p.L471F|BTK_uc010nno.2_Missense_Mutation_p.L681F NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 647 Protein kinase. L -> P (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TTGCTCAGAAGAATTTTGAAA 0.393 NA Agammaglobulinemia_X-linked 32 80 0 0 0 0 RNF113A 7737 broad.mit.edu 37 X 119005174 119005174 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:119005174C>T uc004esb.2 - 1 618 c.403G>A c.(403-405)GAG>AAG p.E135K NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 135 nucleic acid binding|zinc ion binding breast(2) 2 TGGCTGCGCTCAAAGATGGCT 0.527 NA 18 253 0 0 0 0 RNF113A 7737 broad.mit.edu 37 X 119005250 119005250 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:119005250C>T uc004esb.2 - 1 542 c.327G>A c.(325-327)GTG>GTA p.V109V NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 109 nucleic acid binding|zinc ion binding breast(2) 2 CCTCTGGTCCCACGGGTTTCG 0.562 NA 14 181 0 0 0 0 RNF113A 7737 broad.mit.edu 37 X 119005303 119005303 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:119005303C>T uc004esb.2 - 1 489 c.274G>A c.(274-276)GAG>AAG p.E92K NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 92 Poly-Glu. nucleic acid binding|zinc ion binding breast(2) 2 CTCTCGGGCTCATTTTCCTCT 0.547 NA 11 145 0 0 0 0 RNF113A 7737 broad.mit.edu 37 X 119005408 119005408 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:119005408C>T uc004esb.2 - 1 384 c.169G>A c.(169-171)GAA>AAA p.E57K NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 57 nucleic acid binding|zinc ion binding breast(2) 2 CGCTTCTTTTCCGGTCGAACC 0.602 NA 6 133 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122537305 122537305 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:122537305G>A uc004etq.3 + 10 1521 c.1228G>A c.(1228-1230)GAT>AAT p.D410N GRIA3_uc004etr.3_Missense_Mutation_p.D410N|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.D394N NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 410 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GCCTTTCTCAGATCAGCAAAT 0.443 NA 58 97 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130410218 130410218 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:130410218G>A uc004ewd.2 - 15 2851 c.2613C>T c.(2611-2613)TTC>TTT p.F871F IGSF1_uc004ewe.3_Silent_p.F865F|IGSF1_uc004ewf.2_Silent_p.F851F NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 871 Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GTTTGGGGTAGAATTCTGAAA 0.473 NA 11 20 0 0 0 0 GABRA3 2556 broad.mit.edu 37 X 151366158 151366158 + Nonsense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chrX:151366158G>C uc010ntk.1 - 8 1118 c.878C>G c.(877-879)TCA>TGA p.S293* NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 293 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CGACACTTGTGACAGAATGAC 0.453 NA 12 34 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr12:6711546delT uc001qpo.2 - 3 382 c.218delA c.(217-219)AAGfs p.K73fs CHD4_uc001qpn.2_Frame_Shift_Del_p.K73fs|CHD4_uc001qpp.2_Frame_Shift_Del_p.K70fs NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 NA 7 393 --- --- --- --- NA NA NA NA SRRM2 23524 broad.mit.edu 37 16 2808519 2808519 + Frame_Shift_Del DEL G G - TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr16:2808519delG uc002crk.2 + 5 1113 c.564delG c.(562-564)AAGfs p.K188fs SRRM2_uc002crj.1_Frame_Shift_Del_p.K92fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.K188fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.K92fs NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 188 Lys-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CAaagcagaagaagaagaaaa 0.413 NA 25 207 --- --- --- --- NA NA NA NA PSG3 5671 broad.mit.edu 37 19 43243011 43243011 + Frame_Shift_Del DEL C C - TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5e7d2531-81c1-48bb-9c0a-1867d1f83f92 a09784cf-42b3-40c9-b7d0-d54a56563b7b g.chr19:43243011delC uc002oue.2 - 2 427 c.295delG c.(295-297)GAAfs p.E99fs PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Frame_Shift_Del_p.E121fs NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 99 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TATACTGTTTCTCGTCCACTG 0.453 NA 69 541 --- --- --- --- NA NA NA NA