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 ATAD3A 55210 broad.mit.edu 37 1 1454368 1454368 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:1454368G>A uc001afz.1 + 5 750 c.656G>A c.(655-657)CGA>CAA p.R219Q ATAD3A_uc001aga.1_Missense_Mutation_p.R171Q|ATAD3A_uc001agb.1_Missense_Mutation_p.R92Q NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 219 Potential. ATP binding|nucleoside-triphosphatase activity|protein binding skin(1) 1 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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GCCATGCGGCGAGGTAGGCTG 0.607000 NADK 65220 broad.mit.edu 37 1 1688041 1688041 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:1688041T>C uc009vkw.2 - 5 521 c.400A>G c.(400-402)ATG>GTG p.M134V NADK_uc001aic.2_Missense_Mutation_p.M134V|NADK_uc001aid.3_Missense_Mutation_p.M134V|NADK_uc001aie.2_Missense_Mutation_p.M279V|NADK_uc010nyv.1_Missense_Mutation_p.M102V|NADK_uc009vkx.1_Missense_Mutation_p.M12V NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 134 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TACACGATCATGTTCTCCTGG 0.542000 CHD5 26038 broad.mit.edu 37 1 6181285 6181285 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:6181285C>T uc001amb.1 - 33 4892 c.4792G>A c.(4792-4794)GCC>ACC p.A1598T CHD5_uc001alz.1_Missense_Mutation_p.A455T|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1598 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTATCCAAGGCGGCTGGAAGG 0.657000 CHD5 26038 broad.mit.edu 37 1 6206467 6206467 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:6206467G>A uc001amb.1 - 11 1707 c.1607C>T c.(1606-1608)ACG>ATG p.T536M CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 536 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATACATCACCGTGTGGTACAG 0.577000 SLC2A5 6518 broad.mit.edu 37 1 9098963 9098963 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:9098963C>T uc001apo.2 - 9 1314 c.1022G>A c.(1021-1023)CGG>CAG p.R341Q SLC2A5_uc010nzy.1_Missense_Mutation_p.R282Q|SLC2A5_uc010nzz.1_Missense_Mutation_p.R226Q|SLC2A5_uc010oaa.1_Missense_Mutation_p.R297Q|SLC2A5_uc010oab.1_Missense_Mutation_p.R341Q NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 341 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAGCCTCCGACCCAGGAG 0.667000 CASZ1 54897 broad.mit.edu 37 1 10699614 10699614 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:10699614G>A uc001aro.2 - 21 4985 c.4665C>T c.(4663-4665)GCC>GCT p.A1555A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1555 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) CGGCGCAGTCGGCGCTGGAGC 0.657000 CASZ1 54897 broad.mit.edu 37 1 10725588 10725588 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:10725588G>A uc001aro.2 - 5 377 c.57C>T c.(55-57)CCC>CCT p.P19P CASZ1_uc001arp.1_Silent_p.P19P|CASZ1_uc009vmx.2_Silent_p.P43P NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 19 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) GCGCCATGGCGGGCTTGCCTG 0.672000 EPHA2 1969 broad.mit.edu 37 1 16458317 16458317 + Missense_Mutation SNP G G A rs55869078 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:16458317G>A uc001aya.1 - 14 2511 c.2374C>T c.(2374-2376)CGG>TGG p.R792W NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 792 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GTGAACTTCCGGTAGGAAATG 0.637000 KLHDC7A 127707 broad.mit.edu 37 1 18809240 18809240 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:18809240G>A uc001bax.2 + 1 1817 c.1765G>A c.(1765-1767)GGG>AGG p.G589R KLHDC7A_uc009vpg.2_Missense_Mutation_p.G371R NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 589 Kelch 3. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCTGGACGGGCACCTGTA 0.692000 HSPG2 3339 broad.mit.edu 37 1 22174580 22174580 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:22174580C>T uc001bfj.2 - 60 7784 c.7744G>A c.(7744-7746)GGC>AGC p.G2582S HSPG2_uc009vqd.2_Missense_Mutation_p.G2583S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2582 Ig-like C2-type 11. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGCCGGGAGCCCACGATCTGC 0.652000 EPHB2 2048 broad.mit.edu 37 1 23111249 23111249 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:23111249G>A uc009vqj.1 + 3 636 c.491G>A c.(490-492)CGG>CAG p.R164Q EPHB2_uc001bge.2_Missense_Mutation_p.R164Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R164Q|EPHB2_uc010odu.1_Missense_Mutation_p.R164Q NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 164 Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACCGAGGTGCGGAGCTTCGGA 0.602000 Hereditary_Prostate_Cancer ARID1A 8289 broad.mit.edu 37 1 27100207 27100207 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:27100207C>T uc001bmv.1 + 16 4376 c.4003C>T c.(4003-4005)CGA>TGA p.R1335* ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1334*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1335*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R952*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R181*|ARID1A_uc009vsm.1_Translation_Start_Site|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1335 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1334_R1335insQ(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) gcagcagcaACGGTGAGTAAA 0.498000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC SYTL1 84958 broad.mit.edu 37 1 27677388 27677388 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:27677388C>T uc001bnw.1 + 11 1276 c.1109C>T c.(1108-1110)CCC>CTC p.P370L SYTL1_uc001bnv.1_Missense_Mutation_p.P358L|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.P370L NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 370 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTTGAAGTGCCCCTGGACACG 0.701000 MAP3K6 9064 broad.mit.edu 37 1 27691373 27691373 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:27691373A>G uc001bny.1 - 2 620 c.371T>C c.(370-372)CTG>CCG p.L124P MAP3K6_uc009vsw.1_Missense_Mutation_p.L124P NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 124 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGGCTGTACCAGCGAGCTGCT 0.627000 PTPRU 10076 broad.mit.edu 37 1 29641884 29641884 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:29641884C>T uc001bru.2 + 24 3368 c.3258C>T c.(3256-3258)AGC>AGT p.S1086S PTPRU_uc001brv.2_Silent_p.S1082S|PTPRU_uc001brw.2_Silent_p.S1076S|PTPRU_uc009vtq.2_Silent_p.S1082S|PTPRU_uc009vtr.2_Silent_p.S1073S NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1086 Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTCTCTCCAGCGCGGGCACCG 0.582000 COL16A1 1307 broad.mit.edu 37 1 32127954 32127954 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:32127954T>C uc001btk.1 - 58 4027 c.3662A>G c.(3661-3663)GAC>GGC p.D1221G COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Missense_Mutation_p.D1019G NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1221 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AGGCTTGCCGTCCTTCCCATC 0.617000 TMEM39B 55116 broad.mit.edu 37 1 32557559 32557559 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:32557559A>G uc010ogv.1 + 6 1020 c.874A>G c.(874-876)AGC>GGC p.S292G TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.S165G|TMEM39B_uc001bue.3_Missense_Mutation_p.S293G|TMEM39B_uc001buf.3_Missense_Mutation_p.S93G|TMEM39B_uc010ogw.1_Missense_Mutation_p.S93G NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 292 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AGTGCTCGTCAGCTCCATGCT 0.577000 LCK 3932 broad.mit.edu 37 1 32740365 32740365 + Missense_Mutation SNP C C T rs139649211 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:32740365C>T uc001bux.2 + 3 271 c.133C>T c.(133-135)CGG>TGG p.R45W LCK_uc001buy.2_Missense_Mutation_p.R45W|LCK_uc001buz.2_Missense_Mutation_p.R45W|LCK_uc010ohc.1_Missense_Mutation_p.R89W|LCK_uc001bva.2_Missense_Mutation_p.R45W NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 45 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CTCTGAGGTGCGGGACCCACT 0.632000 T TRB@ T-ALL RBBP4 5928 broad.mit.edu 37 1 33134370 33134370 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:33134370G>A uc001bvr.2 + 5 674 c.515G>A c.(514-516)CGT>CAT p.R172H RBBP4_uc001bvs.2_Missense_Mutation_p.R171H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.R137H NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 172 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCAGACTTGCGTCTCCGTGGA 0.502000 ZSCAN20 7579 broad.mit.edu 37 1 33959045 33959045 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:33959045T>C uc001bxj.3 + 7 1870 c.1703T>C c.(1702-1704)CTG>CCG p.L568P ZSCAN20_uc009vui.2_Missense_Mutation_p.L567P NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 568 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTGGACTCGCTGATGAGGGCT 0.587000 TRIT1 54802 broad.mit.edu 37 1 40309782 40309782 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:40309782C>T uc010oiz.1 - 10 1239 c.1225G>A c.(1225-1227)GAA>AAA p.E409K TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.E105K|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.E163K|TRIT1_uc001ceh.3_Missense_Mutation_p.E163K|TRIT1_uc009vvv.2_Missense_Mutation_p.E242K|TRIT1_uc001cei.3_Missense_Mutation_p.E163K|TRIT1_uc001ceq.2_Missense_Mutation_p.E105K|TRIT1_uc001cek.2_Missense_Mutation_p.E105K|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.E327K|TRIT1_uc001cen.2_Missense_Mutation_p.E163K|TRIT1_uc001ceo.2_Missense_Mutation_p.E163K|TRIT1_uc001cep.2_Missense_Mutation_p.E163K NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 409 Matrin-type. tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCTGCCCATTCGCGATCCCCA 0.453000 KDM4A 9682 broad.mit.edu 37 1 44131409 44131409 + Silent SNP C C T rs139088184 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:44131409C>T uc001cjx.2 + 6 832 c.666C>T c.(664-666)CTC>CTT p.L222L KDM4A_uc010oki.1_Silent_p.L222L NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 222 JmjC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TGGAACGCCTCGCCAAAGGTA 0.527000 RNF220 55182 broad.mit.edu 37 1 44877843 44877843 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:44877843T>G uc001clv.1 + 2 434 c.74T>G c.(73-75)CTG>CGG p.L25R RNF220_uc001clw.1_Missense_Mutation_p.L25R NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 25 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TCCCCAGCACTGATGGTCCTG 0.577000 CYP4B1 1580 broad.mit.edu 37 1 47280920 47280920 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:47280920C>T uc001cqm.3 + 8 1138 c.1054C>T c.(1054-1056)CAG>TAG p.Q352* CYP4B1_uc009vyl.1_Nonsense_Mutation_p.Q189*|CYP4B1_uc001cqn.3_Nonsense_Mutation_p.Q353*|CYP4B1_uc009vym.2_Nonsense_Mutation_p.Q338*|CYP4B1_uc010omk.1_Nonsense_Mutation_p.Q189* NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 352 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCTAGGGGACCAGGACTTCTT 0.582000 CYP4X1 260293 broad.mit.edu 37 1 47512174 47512174 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:47512174G>A uc001cqt.2 + 9 1359 c.1109G>A c.(1108-1110)TGC>TAC p.C370Y CYP4X1_uc001cqr.2_Missense_Mutation_p.C369Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.C305Y NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 370 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 ACCACAATGTGCATCAAGGAG 0.498000 C1orf163 65260 broad.mit.edu 37 1 53153414 53153414 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:53153414A>G uc001cui.1 - 3 714 c.674T>C c.(673-675)GTC>GCC p.V225A NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 225 binding 0 TAAGGGTTGGACACCTTTCTG 0.527000 IL12RB2 3595 broad.mit.edu 37 1 67833651 67833651 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:67833651C>T uc001ddu.2 + 10 2042 c.1402C>T c.(1402-1404)CAG>TAG p.Q468* IL12RB2_uc010oqi.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 468 Fibronectin type-III 4.|Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 GGGTGACACACAGGTCCCTCT 0.512000 DEPDC1 55635 broad.mit.edu 37 1 68948473 68948473 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:68948473T>C uc001dem.3 - 8 1135 c.1018A>G c.(1018-1020)AAA>GAA p.K340E DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 340 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TCAGTTGATTTGAAGGAATTC 0.358000 MSH4 4438 broad.mit.edu 37 1 76344799 76344799 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:76344799T>C uc001dhd.1 + 12 1704 c.1663T>C c.(1663-1665)TCA>CCA p.S555P NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 555 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TCAACTTCCTTCAGAATTTAT 0.328000 MMR PRKACB 5567 broad.mit.edu 37 1 84649798 84649798 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:84649798C>T uc001djj.2 + 4 580 c.316C>T c.(316-318)CGA>TGA p.R106* PRKACB_uc001djl.2_Nonsense_Mutation_p.R153*|PRKACB_uc010ort.1_Nonsense_Mutation_p.R113*|PRKACB_uc001djn.2_Nonsense_Mutation_p.R110*|PRKACB_uc010oru.1_Nonsense_Mutation_p.R94*|PRKACB_uc001djp.2_Nonsense_Mutation_p.R112*|PRKACB_uc001djq.2_Intron|PRKACB_uc010orv.1_Nonsense_Mutation_p.R93*|PRKACB_uc001dji.2_Nonsense_Mutation_p.R106*|PRKACB_uc001djk.2_Nonsense_Mutation_p.R153*|PRKACB_uc009wcf.1_Nonsense_Mutation_p.R112* NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 106 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) TTTCCTTGTTCGACTGGAGTA 0.274000 CCDC18 343099 broad.mit.edu 37 1 93667456 93667456 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:93667456C>T uc001dpq.2 + 7 1228 c.1060C>T c.(1060-1062)CGA>TGA p.R354* NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 236 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TAGAGCTGAACGACAAAGGAA 0.308000 PTBP2 58155 broad.mit.edu 37 1 97272007 97272007 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:97272007C>T uc001drq.2 + 10 1323 c.1077C>T c.(1075-1077)TTC>TTT p.F359F PTBP2_uc001drn.2_Silent_p.F364F|PTBP2_uc001dro.2_Silent_p.F359F|PTBP2_uc010otz.1_Silent_p.F375F|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Silent_p.F307F|PTBP2_uc001drr.2_Silent_p.F364F|PTBP2_uc010oua.1_Silent_p.F367F|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 359 RRM 3. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TTACCCTCTTCGGTATGTTAT 0.378000 DBT 1629 broad.mit.edu 37 1 100672100 100672100 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:100672100G>A uc001dta.2 - 9 1143 c.1110C>T c.(1108-1110)ATC>ATT p.I370I DBT_uc010oug.1_Silent_p.I189I NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 370 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) GTTCAGTGGCGATGTCAAATA 0.428000 VCAM1 7412 broad.mit.edu 37 1 101197054 101197054 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:101197054C>T uc001dti.2 + 6 1625 c.1505C>T c.(1504-1506)ACG>ATG p.T502M VCAM1_uc001dtj.2_Missense_Mutation_p.T410M|VCAM1_uc010ouj.1_Missense_Mutation_p.T440M NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 502 Ig-like C2-type 5.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGGCAGAGTACGCAAACACTT 0.378000 COL11A1 1301 broad.mit.edu 37 1 103354303 103354303 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:103354303G>A uc001dul.2 - 61 4848 c.4530C>T c.(4528-4530)GGC>GGT p.G1510G COL11A1_uc001duk.2_Silent_p.G706G|COL11A1_uc001dum.2_Silent_p.G1522G|COL11A1_uc001dun.2_Silent_p.G1471G|COL11A1_uc009weh.2_Silent_p.G1394G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1510 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACCCTTTGGGCCTTGAGGAC 0.348000 SARS 6301 broad.mit.edu 37 1 109756660 109756660 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:109756660C>A uc001dwu.1 + 1 121 c.46C>A c.(46-48)CCA>ACA p.P16T SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 16 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGGAGGGGACCCAGCCCTCAT 0.597000 FAM40A 85369 broad.mit.edu 37 1 110582098 110582098 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:110582098C>T uc001dza.1 + 5 561 c.542C>T c.(541-543)ACG>ATG p.T181M FAM40A_uc001dyz.1_Missense_Mutation_p.T86M|FAM40A_uc009wfp.1_Translation_Start_Site NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 181 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) GAGGTGGGCACGTTCAATGCT 0.557000 WDR3 10885 broad.mit.edu 37 1 118488721 118488721 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:118488721G>C uc010oxe.1 + 12 1407 c.1341G>C c.(1339-1341)CAG>CAC p.Q447H WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 447 WD 7. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CTACACTGCAGTGTATTCGCA 0.383000 HSD3B2 3284 broad.mit.edu 37 1 119962129 119962129 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:119962129C>T uc001ehs.2 + 2 1004 c.231C>T c.(229-231)GTC>GTT p.V77V HSD3B2_uc001eht.2_Silent_p.V77V|HSD3B2_uc001ehu.2_Silent_p.V77V NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 77 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) ACGTCTCGGTCGTCATCCACA 0.498000 ZNF697 90874 broad.mit.edu 37 1 120165559 120165559 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:120165559C>T uc001ehy.1 - 3 1521 c.1407G>A c.(1405-1407)CAG>CAA p.Q469Q NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 469 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GCTTCTCGCACTGGCCACAGC 0.652000 PDE4DIP 9659 broad.mit.edu 37 1 144857705 144857705 + Missense_Mutation SNP G G A rs146619065 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:144857705G>A uc001elw.3 - 39 6640 c.6349C>T c.(6349-6351)CGG>TGG p.R2117W NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R2011W|PDE4DIP_uc001elv.3_Missense_Mutation_p.R1124W NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2117 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCAACATCCCGGACTGGAGGG 0.517000 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144859846 144859846 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:144859846C>T uc001elw.3 - 38 6529 c.6238G>A c.(6238-6240)GCT>ACT p.A2080T NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1974T|PDE4DIP_uc001elv.3_Missense_Mutation_p.A1087T NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2080 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTTGCCAGCACCGCTCTCC 0.582000 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144879338 144879338 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:144879338A>G uc001elw.3 - 27 4403 c.4112T>C c.(4111-4113)GTC>GCC p.V1371A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V1327A|PDE4DIP_uc001elv.3_Missense_Mutation_p.V378A NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1371 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTTTGAATGACCTTGTTGGC 0.488000 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 145075648 145075648 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:145075648G>A uc001emh.2 - 1 432 c.215C>T c.(214-216)GCG>GTG p.A72V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.A72V|PDE4DIP_uc001emk.2_Missense_Mutation_p.A72V NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGTGTGGCCGCCGCAGCTGC 0.721000 T PDGFRB MPD CHD1L 9557 broad.mit.edu 37 1 146751709 146751709 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:146751709T>C uc001epm.3 + 15 1613 c.1550T>C c.(1549-1551)ATA>ACA p.I517T uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.I404T|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.I423T|CHD1L_uc010ozp.1_Missense_Mutation_p.I236T|CHD1L_uc001epo.3_Missense_Mutation_p.I313T|CHD1L_uc010ozq.1_Missense_Mutation_p.I90T|CHD1L_uc009wji.2_Missense_Mutation_p.I236T NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 517 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) TTGAGTGAGATACTCAAATTT 0.418000 ZNF687 57592 broad.mit.edu 37 1 151262928 151262928 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:151262928G>A uc001exq.2 + 8 3196 c.3098G>A c.(3097-3099)CGC>CAC p.R1033H ZNF687_uc009wmo.2_Missense_Mutation_p.R1033H|ZNF687_uc009wmp.2_Silent_p.T1053T NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1033 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGGGAAAACGCACCTTCAGC 0.647000 RFX5 5993 broad.mit.edu 37 1 151318748 151318748 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:151318748C>G uc001exv.1 - 3 263 c.49G>C c.(49-51)GCC>CCC p.A17P RFX5_uc001exw.1_Missense_Mutation_p.A17P|RFX5_uc009wmr.1_Missense_Mutation_p.A17P|RFX5_uc010pcx.1_Missense_Mutation_p.A17P NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 17 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTGGGGGGGCCCTTCCCCCA 0.552000 CGN 57530 broad.mit.edu 37 1 151491681 151491681 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:151491681G>A uc009wmw.2 + 2 830 c.686G>A c.(685-687)CGC>CAC p.R229H NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 223 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAACGGGAGCGCCAGTCCACC 0.612000 LCE1D 353134 broad.mit.edu 37 1 152770577 152770577 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:152770577G>A uc009wnp.2 + 2 350 c.307G>A c.(307-309)GGT>AGT p.G103S NM_178352 NP_848129 Q5T752 LCE1D_HUMAN late cornified envelope 1D 103 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTGCTGCGGTGGGGGCAG 0.632000 GBA 2629 broad.mit.edu 37 1 155205593 155205593 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:155205593C>A uc001fjh.2 - 9 1417 c.1267G>T c.(1267-1269)GCC>TCC p.A423S RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.A310S|GBA_uc010pfx.1_Missense_Mutation_p.A374S|GBA_uc001fji.2_Missense_Mutation_p.A423S|GBA_uc001fjj.2_Missense_Mutation_p.A423S|GBA_uc001fjk.2_Missense_Mutation_p.A423S|GBA_uc001fjl.2_Missense_Mutation_p.A423S|GBA_uc010pfy.1_Missense_Mutation_p.A336S NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 423 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GGGTTCAGGGCAAGGTTCCAG 0.532000 Gaucher_disease_type_I LMNA 4000 broad.mit.edu 37 1 156108328 156108328 + Missense_Mutation SNP C C T rs59601651 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:156108328C>T uc001fni.2 + 11 1997 c.1748C>T c.(1747-1749)TCG>TTG p.S583L LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.S553L|LMNA_uc009wro.1_Missense_Mutation_p.S583L|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.S484L|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 583 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) AACCTGCGCTCGCGCACCGTG 0.692000 Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome SEMA4A 64218 broad.mit.edu 37 1 156146501 156146501 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:156146501A>G uc001fnl.2 + 15 2103 c.1999A>G c.(1999-2001)AGG>GGG p.R667G SEMA4A_uc009wrq.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnm.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnn.2_Missense_Mutation_p.R535G|SEMA4A_uc001fno.2_Missense_Mutation_p.R667G NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 667 Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCCGTTGACCAGGGTCAGTGG 0.622000 CD1D 912 broad.mit.edu 37 1 158152725 158152725 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:158152725T>G uc001frr.2 + 5 1164 c.665T>G c.(664-666)CTG>CGG p.L222R CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 222 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CGTCTGCTGCTGGTGTGCCAT 0.602000 KCNJ9 3765 broad.mit.edu 37 1 160054211 160054211 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:160054211C>T uc001fuy.1 + 2 633 c.391C>T c.(391-393)CAG>TAG p.Q131* NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 131 Extracellular (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCACCGACCAGTGCCCCGA 0.637000 HSPA6 3310 broad.mit.edu 37 1 161495291 161495291 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:161495291G>T uc001gap.2 + 2 1503 c.843G>T c.(841-843)CAG>CAT p.Q281H HSPA6_uc001gaq.2_Missense_Mutation_p.Q281H NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 281 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCAGCACCCAGGCCACCCTGG 0.642000 ATF6 22926 broad.mit.edu 37 1 161816299 161816299 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:161816299G>A uc001gbr.2 + 10 1315 c.1248G>A c.(1246-1248)AGG>AGA p.R416R ATF6_uc001gbq.1_Silent_p.R416R NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 416 Lumenal (Potential). RR->AA: Reduces proteolytic cleavage. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ATCAAAGGAGGCACCTTCTAG 0.403000 LRRC52 440699 broad.mit.edu 37 1 165513572 165513572 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:165513572C>T uc001gde.2 + 1 95 c.39C>T c.(37-39)CTC>CTT p.L13L LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 13 integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GGTGGTTACTCTTTTCCTTTG 0.512000 DUSP27 92235 broad.mit.edu 37 1 167096928 167096928 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:167096928T>C uc001geb.1 + 5 2560 c.2560T>C c.(2560-2562)TAC>CAC p.Y854H NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 854 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GATGTCTGAGTACAAAATGGA 0.493000 CEP350 9857 broad.mit.edu 37 1 180063357 180063357 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:180063357A>G uc001gnt.2 + 34 8500 c.8117A>G c.(8116-8118)AAC>AGC p.N2706S CEP350_uc009wxl.2_Missense_Mutation_p.N2705S|CEP350_uc001gnv.2_Missense_Mutation_p.N841S|CEP350_uc001gnw.1_Missense_Mutation_p.N463S|CEP350_uc001gnx.1_Missense_Mutation_p.N463S NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2706 centrosome|nucleus|spindle ovary(4) 4 GAGGAAGACAACCTATATGCT 0.408000 CFH 3075 broad.mit.edu 37 1 196695710 196695710 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:196695710A>G uc001gtj.3 + 13 2224 c.1984A>G c.(1984-1986)AGA>GGA p.R662G NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 662 Sushi 11. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TTGCAATCCTAGATTTCTAAT 0.343000 IGFN1 91156 broad.mit.edu 37 1 201184907 201184907 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:201184907G>A uc001gwc.2 + 4 1488 c.716G>A c.(715-717)AGC>AAC p.S239N IGFN1_uc001gwb.2_Intron NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 GGCCAGTACAGCGTGACACTG 0.642000 PKP1 5317 broad.mit.edu 37 1 201253030 201253030 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:201253030G>A uc001gwd.2 + 1 451 c.200G>A c.(199-201)CGA>CAA p.R67Q PKP1_uc001gwe.2_Missense_Mutation_p.R67Q|PKP1_uc009wzm.2_5'UTR NM_000299 NP_000290 Q13835 PKP1_HUMAN plakophilin 1 isoform 1b 67 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis ovary(2) 2 CACTCCAATCGAGGTAAAGGC 0.667000 ATP2B4 493 broad.mit.edu 37 1 203677055 203677055 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:203677055C>T uc001gzw.2 + 10 2264 c.1380C>T c.(1378-1380)ACC>ACT p.T460T ATP2B4_uc001gzv.2_Silent_p.T460T|ATP2B4_uc009xaq.2_Silent_p.T460T NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 460 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GCAACGCCACCGCCATCTGCT 0.488000 PIK3C2B 5287 broad.mit.edu 37 1 204399062 204399062 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:204399062G>A uc001haw.2 - 30 4864 c.4385C>T c.(4384-4386)CCT>CTT p.P1462L PIK3C2B_uc010pqv.1_Missense_Mutation_p.P1434L NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1462 PX. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCCACCTCAGGGGGTGCGTG 0.667000 CR1L 1379 broad.mit.edu 37 1 207818619 207818619 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:207818619G>A uc001hga.3 + 1 162 c.41G>A c.(40-42)CGG>CAG p.R14Q CR1L_uc001hfz.2_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 14 cytoplasm|extracellular region|membrane 0 TTTCCTTCCCGGCGCTTTCCT 0.667000 PLXNA2 5362 broad.mit.edu 37 1 208390360 208390360 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:208390360G>C uc001hgz.2 - 2 1666 c.908C>G c.(907-909)GCC>GGC p.A303G PLXNA2_uc001hha.3_Missense_Mutation_p.A357G NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 303 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTCCACCCCGGCCCGGGTGCA 0.612000 DTL 51514 broad.mit.edu 37 1 212273987 212273987 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:212273987A>G uc009xdc.2 + 14 1969 c.1655A>G c.(1654-1656)AAG>AGG p.K552R DTL_uc010ptb.1_Missense_Mutation_p.K510R|DTL_uc001hiz.3_Missense_Mutation_p.K281R NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 552 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) AATAGAGTAAAGAGGAGGCTA 0.458000 ATF3 467 broad.mit.edu 37 1 212788387 212788387 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:212788387G>T uc001hjf.2 + 2 157 c.24G>T c.(22-24)CAG>CAT p.Q8H ATF3_uc001hjj.2_Missense_Mutation_p.Q8H|ATF3_uc009xdg.1_RNA|ATF3_uc001hjh.2_Missense_Mutation_p.Q8H|ATF3_uc001hji.2_Missense_Mutation_p.Q8H|ATF3_uc010ptg.1_RNA NM_001030287 NP_001025458 P18847 ATF3_HUMAN activating transcription factor 3 isoform 1 8 nucleolus identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) ACCCAGGCCAGGTCTCTGCCT 0.557000 USH2A 7399 broad.mit.edu 37 1 216497693 216497693 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:216497693A>C uc001hku.1 - 7 1532 c.1145T>G c.(1144-1146)GTG>GGG p.V382G USH2A_uc001hkv.2_Missense_Mutation_p.V382G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 382 Laminin N-terminal.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATATAAAACACCTGAAAATG 0.289000 HNSCC(13;0.011) OBSCN 84033 broad.mit.edu 37 1 228558394 228558394 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:228558394G>A uc009xez.1 + 93 20225 c.20181G>A c.(20179-20181)GCG>GCA p.A6727A OBSCN_uc001hsr.1_Silent_p.A1356A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6727 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCATGCCTGCGGAGGAGGCCC 0.622000 OBSCN 84033 broad.mit.edu 37 1 228566322 228566322 + Silent SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:228566322C>G uc009xez.1 + 105 23777 c.23733C>G c.(23731-23733)GGC>GGG p.G7911G OBSCN_uc001hsr.1_Silent_p.G2540G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7911 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GTCCCAGGGGCCGGCCCTGCG 0.617000 NUP133 55746 broad.mit.edu 37 1 229643960 229643960 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:229643960T>A uc001htn.2 - 1 129 c.37A>T c.(37-39)ACC>TCC p.T13S NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 13 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CGGGACCCGGTACCCGGGGTC 0.721000 PCNXL2 80003 broad.mit.edu 37 1 233134088 233134088 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:233134088C>T uc001hvl.2 - 32 5935 c.5700G>A c.(5698-5700)CCG>CCA p.P1900P PCNXL2_uc001hvk.1_Silent_p.P552P|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1900 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TGCCACCACTCGGGGCATTGT 0.622000 PLD5 200150 broad.mit.edu 37 1 242428713 242428713 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:242428713G>A uc001hzn.1 - 4 660 c.533C>T c.(532-534)TCG>TTG p.S178L PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 178 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AATATTTTGCGAAGTCAGCTG 0.358000 KIF26B 55083 broad.mit.edu 37 1 245849742 245849742 + Missense_Mutation SNP G G A rs73127009 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:245849742G>A uc001ibf.1 + 12 3897 c.3457G>A c.(3457-3459)GAT>AAT p.D1153N KIF26B_uc001ibg.1_Missense_Mutation_p.D771N|KIF26B_uc001ibh.1_Missense_Mutation_p.D395N NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1153 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AACTCCTGTCGATGATGAGCA 0.587000 NLRP3 114548 broad.mit.edu 37 1 247588307 247588307 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:247588307T>A uc001icr.2 + 5 1700 c.1562T>A c.(1561-1563)ATC>AAC p.I521N NLRP3_uc001ics.2_Missense_Mutation_p.I521N|NLRP3_uc001icu.2_Missense_Mutation_p.I521N|NLRP3_uc001icw.2_Missense_Mutation_p.I521N|NLRP3_uc001icv.2_Missense_Mutation_p.I521N|NLRP3_uc010pyw.1_Missense_Mutation_p.I519N|NLRP3_uc001ict.1_Missense_Mutation_p.I519N NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 521 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TACAGCTTCATCCACATGACT 0.507000 OR2M5 127059 broad.mit.edu 37 1 248309098 248309098 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:248309098T>C uc010pze.1 + 1 649 c.649T>C c.(649-651)TCC>CCC p.S217P NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATCATCGCTTCCTATGCTCG 0.423000 OR2M4 26245 broad.mit.edu 37 1 248402974 248402974 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:248402974C>T uc010pzh.1 + 1 744 c.744C>T c.(742-744)GTC>GTT p.V248V NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 248 Helical; Name=6; (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) TGTCTGTGGTCGGACTCTACT 0.522000 IDI1 3422 broad.mit.edu 37 10 1088622 1088622 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:1088622G>A uc001iga.2 - 4 605 c.487C>T c.(487-489)CGA>TGA p.R163* C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Nonsense_Mutation_p.R107*|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Nonsense_Mutation_p.R107* NM_004508 NP_004499 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 106 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) TGTGCTGCTCGCCTCACTCCA 0.463000 WDR37 22884 broad.mit.edu 37 10 1118155 1118155 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:1118155C>A uc001igf.1 + 2 233 c.60C>A c.(58-60)TCC>TCA p.S20S WDR37_uc001ige.2_Silent_p.S20S|WDR37_uc009xhm.1_Silent_p.S20S|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_5'Flank NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 20 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) AGCGCAAATCCCATAGCCTTT 0.488000 FAM171A1 221061 broad.mit.edu 37 10 15290656 15290656 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:15290656G>A uc001iob.2 - 5 743 c.736C>T c.(736-738)CGG>TGG p.R246W NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 246 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 TGGTCAAACCGCCACGCCGCG 0.552000 SPAG6 9576 broad.mit.edu 37 10 22634743 22634743 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:22634743C>T uc001iri.2 + 2 259 c.117C>T c.(115-117)AAC>AAT p.N39N SPAG6_uc001irj.2_Silent_p.N39N|SPAG6_uc010qct.1_Translation_Start_Site|SPAG6_uc009xkh.2_Silent_p.N17N NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 39 ARM 1. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 CGCTGCAGAACGCGGGTGAGC 0.692000 SVIL 6840 broad.mit.edu 37 10 29775128 29775128 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:29775128A>G uc001iut.1 - 26 5418 c.4665T>C c.(4663-4665)TAT>TAC p.Y1555Y LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.Y469Y|SVIL_uc001iuu.1_Silent_p.Y1129Y|SVIL_uc009xlc.2_Silent_p.Y347Y NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1555 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGGCTGCTTCATAGAGTTCAT 0.423000 FZD8 8325 broad.mit.edu 37 10 35928502 35928502 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:35928502C>T uc001iyz.1 - 1 1861 c.1856G>A c.(1855-1857)CGC>CAC p.R619H NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 619 Cytoplasmic (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 CCAGCAGCAGCGGGTGCACAG 0.408000 RASGEF1A 221002 broad.mit.edu 37 10 43693537 43693537 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:43693537G>T uc001jap.1 - 10 1220 c.1139C>A c.(1138-1140)CCT>CAT p.P380H RASGEF1A_uc001jao.1_Missense_Mutation_p.P388H NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 380 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 GTTGAACACAGGGATGACGAT 0.537000 OREG0020135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF239 8187 broad.mit.edu 37 10 44052231 44052231 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:44052231A>G uc001jaw.3 - 2 1950 c.1297T>C c.(1297-1299)TGC>CGC p.C433R ZNF239_uc001jax.3_Missense_Mutation_p.C433R|ZNF239_uc009xmj.2_Missense_Mutation_p.C433R|ZNF239_uc009xmk.2_Missense_Mutation_p.C433R NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 433 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 CACTTGCTGCACTCATAGGGC 0.517000 GDF10 2662 broad.mit.edu 37 10 48438579 48438579 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:48438579G>A uc001jfb.2 - 1 588 c.132C>T c.(130-132)CCC>CCT p.P44P GDF10_uc009xnp.2_Silent_p.P44P|GDF10_uc009xnq.1_Silent_p.P44P NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 44 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CGGCGGCCGCGGGCAGTGCGG 0.632000 FRMPD2 143162 broad.mit.edu 37 10 49459733 49459733 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:49459733G>A uc001jgi.2 - 2 134 c.27C>T c.(25-27)GGC>GGT p.G9G FRMPD2_uc001jgh.2_5'UTR|FRMPD2_uc001jgj.2_Silent_p.G9G NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 9 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) ACAGGCTCATGCCTACAATAA 0.602000 SLC18A3 6572 broad.mit.edu 37 10 50819345 50819345 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:50819345C>A uc001jhw.2 + 1 999 c.559C>A c.(559-561)CTG>ATG p.L187M CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 187 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCTGCAGGGCCTGGGCTCAGC 0.677000 OGDHL 55753 broad.mit.edu 37 10 50946253 50946253 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:50946253T>G uc001jie.2 - 18 2517 c.2375A>C c.(2374-2376)GAC>GCC p.D792A OGDHL_uc009xog.2_Missense_Mutation_p.D819A|OGDHL_uc010qgt.1_Missense_Mutation_p.D735A|OGDHL_uc010qgu.1_Missense_Mutation_p.D583A NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 792 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGCATCCGAGTCATCATTGCT 0.622000 ANK3 288 broad.mit.edu 37 10 61833851 61833851 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:61833851G>A uc001jky.2 - 37 6980 c.6788C>T c.(6787-6789)GCA>GTA p.A2263V ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2263 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCTTTCAGATGCACCTTCACC 0.463000 EGR2 1959 broad.mit.edu 37 10 64573489 64573489 + Silent SNP T T G rs112474655 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:64573489T>G uc010qim.1 - 3 1063 c.909A>C c.(907-909)GCA>GCC p.A303A EGR2_uc010qin.1_Silent_p.A253A|EGR2_uc001jmi.2_Silent_p.A303A|EGR2_uc010qio.1_Silent_p.A316A|EGR2_uc009xph.2_Silent_p.A303A NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 303 Poly-Ala. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CGGCGGCGGCTGCTGCTGCTG 0.697000 JMJD1C 221037 broad.mit.edu 37 10 64943307 64943307 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:64943307A>G uc001jmn.2 - 22 7284 c.6984T>C c.(6982-6984)CAT>CAC p.H2328H JMJD1C_uc001jml.2_Silent_p.H2091H|JMJD1C_uc001jmm.2_Silent_p.H2040H|JMJD1C_uc010qiq.1_Silent_p.H2146H|JMJD1C_uc009xpi.2_Silent_p.H2146H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.H235H NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2328 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTCCTATATCATGATCTTTAG 0.294000 JMJD1C 221037 broad.mit.edu 37 10 64967739 64967739 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:64967739T>C uc001jmn.2 - 10 3990 c.3690A>G c.(3688-3690)CCA>CCG p.P1230P JMJD1C_uc001jml.2_Silent_p.P1011P|JMJD1C_uc001jmm.2_Silent_p.P942P|JMJD1C_uc010qiq.1_Silent_p.P1048P|JMJD1C_uc009xpi.2_Silent_p.P1048P|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.P267P NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1230 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GAGTTAAAGTTGGAGGGGAAA 0.463000 H2AFY2 55506 broad.mit.edu 37 10 71871427 71871427 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:71871427C>T uc001jqm.2 + 9 1566 c.1107C>T c.(1105-1107)CTC>CTT p.L369L H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 369 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding skin(1) 1 TGGCCAAGCTCGACGCCAAGT 0.577000 PRF1 5551 broad.mit.edu 37 10 72358855 72358855 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:72358855T>C uc009xqg.2 - 3 783 c.622A>G c.(622-624)ACC>GCC p.T208A PRF1_uc001jrf.3_Missense_Mutation_p.T208A NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 208 MACPF. 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 GCGGGCTGGGTGGAGGCGTTG 0.637000 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis MYST4 23522 broad.mit.edu 37 10 76790451 76790451 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:76790451C>T uc001jwn.1 + 18 6362 c.5869C>T c.(5869-5871)CGG>TGG p.R1957W MYST4_uc001jwo.1_Missense_Mutation_p.R1665W|MYST4_uc001jwp.1_Missense_Mutation_p.R1774W NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1957 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GGGTCCTGCACGGACTTTAAC 0.522000 T CREBBP AML DUPD1 338599 broad.mit.edu 37 10 76797703 76797703 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:76797703G>A uc001jwq.1 - 3 554 c.554C>T c.(553-555)CCG>CTG p.P185L NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 185 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCCCGGTTCGGGAGGACGCA 0.647000 ZNF503 84858 broad.mit.edu 37 10 77158990 77158990 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:77158990C>T uc001jxg.2 - 2 1794 c.1458G>A c.(1456-1458)GCG>GCA p.A486A C10orf41_uc010qlf.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 486 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) CGCCAGCAGCCGCGGCGGCCG 0.687000 C10orf116 10974 broad.mit.edu 37 10 88728342 88728342 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:88728342A>T uc001ked.2 + 1 155 c.41A>T c.(40-42)GAG>GTG p.E14V AGAP11_uc001kee.2_5'Flank|uc001kec.1_3'UTR NM_006829 NP_006820 Q15847 APM2_HUMAN adipose specific 2 14 0 CAACAGGTGGAGGGGACCGCC 0.662000 HTR7 3363 broad.mit.edu 37 10 92509261 92509261 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:92509261G>A uc001kha.2 - 2 873 c.630C>T c.(628-630)TCC>TCT p.S210S HTR7_uc001kgz.2_Silent_p.S210S|HTR7_uc001khb.2_Silent_p.S210S NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 210 Helical; Name=4; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TGATGGAGGCGGAGAGAAGCC 0.493000 TNKS2 80351 broad.mit.edu 37 10 93600433 93600433 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:93600433A>G uc001khp.2 + 14 1940 c.1643A>G c.(1642-1644)CAT>CGT p.H548R NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 548 ANK 10. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) CTGCTACAGCATGGAGCTGAT 0.428000 TNKS2 80351 broad.mit.edu 37 10 93617285 93617285 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:93617285A>G uc001khp.2 + 24 3389 c.3092A>G c.(3091-3093)CAT>CGT p.H1031R NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 1031 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) ATGCTATTTCATGGTAAGATT 0.363000 PLCE1 51196 broad.mit.edu 37 10 95931103 95931103 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:95931103C>T uc001kjk.2 + 4 2293 c.1659C>T c.(1657-1659)GTC>GTT p.V553V PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 553 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TCTTGCCAGTCGACTACCTTT 0.542000 BLNK 29760 broad.mit.edu 37 10 97964352 97964352 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:97964352G>A uc001kls.3 - 12 1016 c.838C>T c.(838-840)CGC>TGC p.R280C BLNK_uc001kme.3_Missense_Mutation_p.R175C|BLNK_uc001klt.3_Missense_Mutation_p.R171C|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.R198C|BLNK_uc001klv.3_Missense_Mutation_p.R175C|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.R257C|BLNK_uc001kly.3_Missense_Mutation_p.R280C|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.R257C|BLNK_uc001kmb.3_Missense_Mutation_p.R76C|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.R198C|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 280 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CCTCGGTGGCGTTCAGCAGGT 0.438000 LBX1 10660 broad.mit.edu 37 10 102987446 102987446 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:102987446G>A uc001ksx.2 - 2 572 c.427C>T c.(427-429)CGC>TGC p.R143C uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 143 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) TATAGAAAGCGCTTTTCCAAT 0.582000 PSD 5662 broad.mit.edu 37 10 104174786 104174786 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:104174786T>C uc001kvg.1 - 4 1485 c.958A>G c.(958-960)AGC>GGC p.S320G PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S320G NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 320 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCCTCAGAGCTGGGCTGACTT 0.672000 NT5C2 22978 broad.mit.edu 37 10 104934693 104934693 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:104934693C>T uc001kwo.2 - 3 209 c.23G>A c.(22-24)CGG>CAG p.R8Q NT5C2_uc001kwq.2_Missense_Mutation_p.R8Q|NT5C2_uc001kwp.2_Intron NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 8 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ATTCTGTAACCGATCACTCCA 0.338000 VWA2 340706 broad.mit.edu 37 10 116020979 116020979 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:116020979C>A uc001lbl.1 + 5 617 c.296C>A c.(295-297)CCT>CAT p.P99H VWA2_uc001lbk.1_Missense_Mutation_p.P99H|VWA2_uc009xyf.1_5'UTR NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 99 VWFA 1. extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) AGTTCCACTCCTCATCTGGAA 0.478000 AFAP1L2 84632 broad.mit.edu 37 10 116057157 116057157 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:116057157G>A uc001lbn.2 - 17 2430 c.2129C>T c.(2128-2130)GCG>GTG p.A710V AFAP1L2_uc001lbo.2_Missense_Mutation_p.A710V|AFAP1L2_uc010qse.1_Missense_Mutation_p.A763V|AFAP1L2_uc001lbp.2_Missense_Mutation_p.A738V|AFAP1L2_uc001lbm.2_Missense_Mutation_p.A149V|AFAP1L2_uc010qsd.1_Missense_Mutation_p.A276V|AFAP1L2_uc001lbq.1_Missense_Mutation_p.A232V NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 710 Potential. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CTCCAGGCTCGCCAGGACTTC 0.592000 FAM53B 9679 broad.mit.edu 37 10 126311936 126311936 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:126311936C>T uc001lhv.1 - 5 1667 c.1144G>A c.(1144-1146)GCC>ACC p.A382T FAM53B_uc001lhu.1_Intron NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 382 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) TCGTCCAGGGCGCAGCTGTCT 0.701000 CTBP2 1488 broad.mit.edu 37 10 126691652 126691652 + Missense_Mutation SNP C C T rs140067472 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:126691652C>T uc009yak.2 - 5 522 c.235G>A c.(235-237)GCC>ACC p.A79T CTBP2_uc009yal.2_Missense_Mutation_p.A79T|CTBP2_uc001lif.3_Missense_Mutation_p.A79T|CTBP2_uc001lih.3_Missense_Mutation_p.A79T|CTBP2_uc001lid.3_Missense_Mutation_p.A147T|CTBP2_uc001lie.3_Missense_Mutation_p.A619T NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 79 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) TACATCATGGCGCCCACGGCT 0.632000 DHX32 55760 broad.mit.edu 37 10 127530326 127530326 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:127530326G>A uc001ljf.1 - 7 2020 c.1529C>T c.(1528-1530)GCA>GTA p.A510V BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.A134V|DHX32_uc001ljg.1_Missense_Mutation_p.A510V|BCCIP_uc001ljc.3_3'UTR|BCCIP_uc010quj.1_3'UTR NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 510 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TACCATGGCTGCGATTGTTAG 0.368000 EBF3 253738 broad.mit.edu 37 10 131640510 131640510 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:131640510G>A uc001lki.1 - 13 1274 c.1215C>T c.(1213-1215)AGC>AGT p.S405S NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 414 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCGGGGAACGCTGTACAGCG 0.647000 CD81 975 broad.mit.edu 37 11 2418088 2418088 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:2418088G>A uc001lwf.1 + 8 936 c.703G>A c.(703-705)GTG>ATG p.V235M CD81_uc001lwg.1_Missense_Mutation_p.V228M|CD81_uc001lwh.1_RNA NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 235 Cytoplasmic (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) GAACAGCTCCGTGTACTGAGG 0.637000 OR56A4 120793 broad.mit.edu 37 11 6023815 6023815 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:6023815C>T uc010qzv.1 - 1 564 c.564G>A c.(562-564)CCG>CCA p.P188P NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATGATAGACGGGTATCTCA 0.488000 OR56B4 196335 broad.mit.edu 37 11 6129814 6129814 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:6129814C>T uc010qzx.1 + 1 806 c.806C>T c.(805-807)GCA>GTA p.A269V NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A269T(1) central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACACACCTTGCAGAGAAAAAG 0.507000 DNHD1 144132 broad.mit.edu 37 11 6592451 6592451 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:6592451C>T uc001mdw.3 + 42 14273 c.13709C>T c.(13708-13710)GCG>GTG p.A4570V DNHD1_uc001mea.3_Missense_Mutation_p.A839V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.A838V|DNHD1_uc010rao.1_Missense_Mutation_p.A828V|DNHD1_uc009yfg.2_Missense_Mutation_p.A195V NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4570 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCGTGGGCGCGGACGCGAGC 0.687000 DNHD1 144132 broad.mit.edu 37 11 6592454 6592454 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:6592454A>G uc001mdw.3 + 42 14276 c.13712A>G c.(13711-13713)GAC>GGC p.D4571G DNHD1_uc001mea.3_Missense_Mutation_p.D840G|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.D839G|DNHD1_uc010rao.1_Missense_Mutation_p.D829G|DNHD1_uc009yfg.2_Missense_Mutation_p.D196G NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4571 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GTGGGCGCGGACGCGAGCAGT 0.687000 DCHS1 8642 broad.mit.edu 37 11 6662364 6662364 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:6662364G>A uc001mem.1 - 2 891 c.481C>T c.(481-483)CGC>TGC p.R161C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 161 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTGGGTAGCGGGTGCCAAAA 0.607000 DKK3 27122 broad.mit.edu 37 11 12029972 12029972 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:12029972T>C uc001mju.2 - 1 215 c.158A>G c.(157-159)GAG>GGG p.E53G DKK3_uc010rcf.1_Missense_Mutation_p.E53G|DKK3_uc001mjv.2_Missense_Mutation_p.E53G|DKK3_uc001mjw.2_Missense_Mutation_p.E53G|DKK3_uc010rcg.1_Missense_Mutation_p.E53G|DKK3_uc001mjx.2_Missense_Mutation_p.E53G NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 53 Potential. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) TTCCTCAACCTCGCGGAACAT 0.692000 MYOD1 4654 broad.mit.edu 37 11 17741442 17741442 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:17741442C>T uc001mni.2 + 1 333 c.113C>T c.(112-114)CCG>CTG p.P38L NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 38 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity p.P38P(1) breast(2)|ovary(1) 3 TTCGACTCCCCGGACCTGCGC 0.667000 CD44 960 broad.mit.edu 37 11 35229751 35229751 + Missense_Mutation SNP C C T rs147167567 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:35229751C>T uc001mvu.2 + 12 1948 c.1514C>T c.(1513-1515)ACG>ATG p.T505M CD44_uc001mvv.2_Missense_Mutation_p.T462M|CD44_uc001mvw.2_Missense_Mutation_p.T256M|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T69M|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Missense_Mutation_p.T33M NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 505 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TCAATGACAACGCGTAAGAAT 0.448000 C11orf94 143678 broad.mit.edu 37 11 45928442 45928442 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:45928442C>T uc001nbs.3 - 2 190 c.153G>A c.(151-153)CAG>CAA p.Q51Q NM_001080446 NP_001073915 C9JXX5 CK094_HUMAN hypothetical protein LOC143678 51 extracellular region 0 CGGAAAGTGGCTGCGAGAGTT 0.627000 PTPRJ 5795 broad.mit.edu 37 11 48177606 48177606 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:48177606C>T uc001ngp.3 + 21 3728 c.3373C>T c.(3373-3375)CGT>TGT p.R1125C NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1125 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 AGATTTTTGGCGTATGGTTTG 0.333000 OR4B1 119765 broad.mit.edu 37 11 48239219 48239219 + Silent SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:48239219A>T uc010rhs.1 + 1 858 c.858A>T c.(856-858)ACA>ACT p.T286T NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 TCATTTACACACTCAGGAATG 0.443000 OR5L2 26338 broad.mit.edu 37 11 55595253 55595253 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:55595253C>T uc001nhy.1 + 1 559 c.559C>T c.(559-561)CTT>TTT p.L187F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCTCCTAAGTCTTGCTTGCTC 0.458000 HNSCC(27;0.073) OR1S2 219958 broad.mit.edu 37 11 57971241 57971241 + Missense_Mutation SNP G G A rs149153142 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:57971241G>A uc010rkb.1 - 1 413 c.413C>T c.(412-414)GCG>GTG p.A138V NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GTGGCAGATCGCCACAAAGTG 0.458000 OR5B21 219968 broad.mit.edu 37 11 58275210 58275210 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:58275210C>T uc010rki.1 - 1 369 c.369G>A c.(367-369)GCG>GCA p.A123A NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCCTACATACCGCTGCATGGC 0.532000 CCDC86 79080 broad.mit.edu 37 11 60617781 60617781 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:60617781C>T uc001nqa.2 + 4 1235 c.1066C>T c.(1066-1068)CCG>TCG p.P356S CCDC86_uc001nqb.2_Missense_Mutation_p.P100S NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 356 interspecies interaction between organisms nucleus 0 GCCCCAGCAGCCGGCAGCCAA 0.642000 DAGLA 747 broad.mit.edu 37 11 61511877 61511877 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:61511877G>A uc001nsa.2 + 20 3156 c.3045G>A c.(3043-3045)GCG>GCA p.A1015A NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 1015 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) AATGCCTGGCGGCTGACAAGA 0.652000 AHNAK 79026 broad.mit.edu 37 11 62289568 62289568 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:62289568A>G uc001ntl.2 - 5 12621 c.12321T>C c.(12319-12321)GGT>GGC p.G4107G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4107 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCCCTTCTGGACCATGAATAT 0.468000 EML3 256364 broad.mit.edu 37 11 62377121 62377121 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:62377121C>A uc001ntu.1 - 5 922 c.614G>T c.(613-615)CGG>CTG p.R205L EML3_uc001ntr.1_Missense_Mutation_p.R177L|EML3_uc001nts.1_Missense_Mutation_p.R177L|EML3_uc001ntt.1_Missense_Mutation_p.R89L|EML3_uc010rly.1_Missense_Mutation_p.R205L|EML3_uc009yny.1_5'UTR NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 205 cytoplasm|microtubule protein binding ovary(1) 1 ATTGCTCCTCCGAGATCCAGG 0.547000 FERMT3 83706 broad.mit.edu 37 11 63987213 63987213 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:63987213A>T uc001nyl.2 + 9 1180 c.1031A>T c.(1030-1032)GAC>GTC p.D344V FERMT3_uc001nym.2_Missense_Mutation_p.D344V NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 344 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 CTCCCATAGGACAGCCTCACC 0.627000 CDC42BPG 55561 broad.mit.edu 37 11 64594015 64594015 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:64594015G>T uc001obs.3 - 36 4526 c.4526C>A c.(4525-4527)CCC>CAC p.P1509H NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1509 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 GGATGTCCAGGGTTTCCTCTT 0.587000 ATG2A 23130 broad.mit.edu 37 11 64675299 64675299 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:64675299G>A uc001obx.2 - 17 2543 c.2428C>T c.(2428-2430)CGC>TGC p.R810C NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 810 protein binding ovary(1)|central_nervous_system(1) 2 AGGCTGCAGCGGGACAGTGCC 0.602000 KAT5 10524 broad.mit.edu 37 11 65482143 65482143 + Silent SNP T T C rs114058675 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:65482143T>C uc001ofi.2 + 8 1019 c.769T>C c.(769-771)TTG>CTG p.L257L KAT5_uc001ofj.2_Silent_p.L205L|KAT5_uc001ofk.2_Silent_p.L290L|KAT5_uc010roo.1_Silent_p.L238L|KAT5_uc001ofl.2_Silent_p.L46L NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 257 L->A: Does not affect phosphorylation; when associated with A-254. androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 ACTCACCACATTGCCTGTCCT 0.577000 NPAS4 266743 broad.mit.edu 37 11 66191381 66191381 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:66191381G>A uc001ohx.1 + 7 1196 c.1020G>A c.(1018-1020)CCG>CCA p.P340P NPAS4_uc010rpc.1_Silent_p.P130P NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 340 transcription, DNA-dependent DNA binding|signal transducer activity 0 TGGGCACTCCGACCATGCTGC 0.577000 TBC1D10C 374403 broad.mit.edu 37 11 67171768 67171768 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:67171768G>A uc001ola.2 + 2 124 c.95G>A c.(94-96)GGC>GAC p.G32D PPP1CA_uc009yro.1_5'Flank|PPP1CA_uc001okt.1_5'Flank|PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|PPP1CA_uc001oky.2_5'Flank|TBC1D10C_uc001okz.2_Missense_Mutation_p.G32D|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 32 intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGCGGGCCTGGCCCATATCGC 0.677000 GPR152 390212 broad.mit.edu 37 11 67218801 67218801 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:67218801C>T uc001olm.2 - 1 1400 c.1395G>A c.(1393-1395)CCG>CCA p.P465P uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 465 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GGCCTGCGCCCGGGGCCGCCT 0.682000 PITPNM1 9600 broad.mit.edu 37 11 67259711 67259711 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:67259711C>T uc001olx.2 - 23 3717 c.3528G>A c.(3526-3528)TCG>TCA p.S1176S PITPNM1_uc001olw.2_Silent_p.S458S|PITPNM1_uc001oly.2_Silent_p.S1176S|PITPNM1_uc001olz.2_Silent_p.S1175S NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 1176 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 AGGAGGCATGCGAGTGCGAGC 0.662000 SAPS3 55291 broad.mit.edu 37 11 68326104 68326104 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:68326104G>A uc001onw.2 + 8 1069 c.802G>A c.(802-804)GCA>ACA p.A268T SAPS3_uc001onv.2_Missense_Mutation_p.A268T|SAPS3_uc001ony.3_Missense_Mutation_p.A268T|SAPS3_uc001onx.2_Missense_Mutation_p.A268T|SAPS3_uc009ysh.2_Missense_Mutation_p.A268T|SAPS3_uc001onu.2_Missense_Mutation_p.A268T|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 268 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) CATAGTCAGTGCAATCCAGAT 0.353000 SHANK2 22941 broad.mit.edu 37 11 70332446 70332446 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:70332446T>C uc001oqc.2 - 21 4030 c.3952A>G c.(3952-3954)ACC>GCC p.T1318A SHANK2_uc010rqn.1_Missense_Mutation_p.T730A|SHANK2_uc001opz.2_Missense_Mutation_p.T723A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 939 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCGTCCACGGTGTGCACCATC 0.607000 SHANK2 22941 broad.mit.edu 37 11 70332856 70332856 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:70332856C>A uc001oqc.2 - 21 3620 c.3542G>T c.(3541-3543)GGG>GTG p.G1181V SHANK2_uc010rqn.1_Missense_Mutation_p.G593V|SHANK2_uc001opz.2_Missense_Mutation_p.G586V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 802 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTCTCGGGCCCCTGGGCTTT 0.692000 PDE2A 5138 broad.mit.edu 37 11 72295734 72295734 + Silent SNP C C T rs150054293 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:72295734C>T uc010rrc.1 - 18 1641 c.1398G>A c.(1396-1398)GCG>GCA p.A466A PDE2A_uc001oso.2_Silent_p.A445A|PDE2A_uc010rra.1_Silent_p.A459A|PDE2A_uc001osn.2_Silent_p.A210A|PDE2A_uc010rrb.1_Silent_p.A457A|PDE2A_uc010rrd.1_Silent_p.A351A NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 466 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCACGTGTCCCGCGATGCCCT 0.632000 C2CD3 26005 broad.mit.edu 37 11 73811600 73811600 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:73811600A>C uc001ouu.2 - 15 2929 c.2702T>G c.(2701-2703)CTT>CGT p.L901R NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 901 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GTGGAGGGGAAGTTTCACCAG 0.418000 XRRA1 143570 broad.mit.edu 37 11 74563070 74563070 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:74563070C>T uc009yub.2 - 13 1536 c.1204G>A c.(1204-1206)GTC>ATC p.V402I XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.V25I|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.V127I|XRRA1_uc001ovr.2_Missense_Mutation_p.V25I|XRRA1_uc001ovs.1_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 402 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TTATGAAAGACGAACTCGCAG 0.542000 MMP12 4321 broad.mit.edu 37 11 102743659 102743659 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:102743659C>T uc001phk.2 - 2 331 c.286G>A c.(286-288)GAT>AAT p.D96N NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 96 Cysteine switch (By similarity). positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGATGGACATCGGGGACTCCA 0.493000 DDI1 414301 broad.mit.edu 37 11 103908603 103908603 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:103908603C>T uc001phr.2 + 1 1296 c.1053C>T c.(1051-1053)ATC>ATT p.I351I PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 351 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGCTGGTCATCGGCACCACTG 0.463000 TTC12 54970 broad.mit.edu 37 11 113220807 113220807 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:113220807G>A uc001pnu.2 + 14 1272 c.1167G>A c.(1165-1167)GCG>GCA p.A389A TTC12_uc001pnv.2_Silent_p.A395A|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.A239A NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 389 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TATTGGAAGCGCTGGTGTCAT 0.413000 DRD2 1813 broad.mit.edu 37 11 113287588 113287588 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:113287588C>T uc001pnz.2 - 3 850 c.529G>A c.(529-531)GCA>ACA p.A177T DRD2_uc010rwv.1_Missense_Mutation_p.A176T|DRD2_uc001poa.3_Missense_Mutation_p.A177T|DRD2_uc001pob.3_Missense_Mutation_p.A177T|DRD2_uc009yyr.1_Missense_Mutation_p.A177T NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 177 Extracellular (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AATGTACCTGCGTTATTGAGT 0.602000 TECTA 7007 broad.mit.edu 37 11 120998812 120998812 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:120998812G>A uc010rzo.1 + 8 2126 c.2126G>A c.(2125-2127)CGG>CAG p.R709Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 709 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTCCCCAAGCGGGAGACCGTG 0.657000 SORL1 6653 broad.mit.edu 37 11 121475876 121475876 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:121475876G>A uc001pxx.2 + 34 4786 c.4706G>A c.(4705-4707)GGG>GAG p.G1569E SORL1_uc010rzp.1_Missense_Mutation_p.G415E|SORL1_uc010rzq.1_Missense_Mutation_p.G184E NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1569 Extracellular (Potential).|Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GACTTCTCTGGGGATGTGACT 0.408000 FOXRED1 55572 broad.mit.edu 37 11 126147471 126147471 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:126147471C>T uc001qdi.2 + 11 1395 c.1348C>T c.(1348-1350)CGA>TGA p.R450* FOXRED1_uc010sbn.1_Nonsense_Mutation_p.R280*|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Nonsense_Mutation_p.R263*|FOXRED1_uc010sbq.1_Nonsense_Mutation_p.R317*|FOXRED1_uc001qdj.2_Nonsense_Mutation_p.R239*|FOXRED1_uc010sbr.1_Nonsense_Mutation_p.R436*|FOXRED1_uc001qdk.2_Nonsense_Mutation_p.R239* NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 450 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) TGGCATTGGGCGAGCTGTAGC 0.572000 APLP2 334 broad.mit.edu 37 11 129992283 129992283 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:129992283A>G uc010sby.1 + 6 954 c.797A>G c.(796-798)GAA>GGA p.E266G APLP2_uc001qfp.2_Missense_Mutation_p.E266G|APLP2_uc001qfq.2_Missense_Mutation_p.E266G|APLP2_uc010sbz.1_Missense_Mutation_p.E110G|APLP2_uc001qfr.2_Missense_Mutation_p.E88G|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.E213G NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 266 Asp/Glu-rich (highly acidic).|Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) gaaggggaggaagtggtggag 0.358000 B3GAT1 27087 broad.mit.edu 37 11 134253988 134253988 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:134253988G>A uc001qhq.2 - 4 468 c.207C>T c.(205-207)ACC>ACT p.T69T B3GAT1_uc001qhr.2_Silent_p.T69T|B3GAT1_uc010scv.1_Silent_p.T82T NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 69 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) ACACGTACTCGGTGCGCACCA 0.701000 KDM5A 5927 broad.mit.edu 37 12 427454 427454 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:427454G>A uc001qif.1 - 19 3078 c.2715C>T c.(2713-2715)GAC>GAT p.D905D KDM5A_uc001qie.1_Silent_p.D905D|KDM5A_uc010sdn.1_Silent_p.D864D NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 905 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GTCTTACTTCGTCCAACCACC 0.493000 T NUP98 AML NCAPD2 9918 broad.mit.edu 37 12 6639960 6639960 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:6639960C>A uc001qoo.2 + 30 3987 c.3941C>A c.(3940-3942)CCA>CAA p.P1314Q NCAPD2_uc010sfd.1_Missense_Mutation_p.P1269Q NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1314 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CAGAGAGCGCCATCAGCCAAG 0.512000 C3AR1 719 broad.mit.edu 37 12 8212583 8212583 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:8212583C>T uc001qtv.1 - 2 291 c.199G>A c.(199-201)GCG>ACG p.A67T NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 67 Helical; Name=2; (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) AGGAGGTCCGCCAAGGTGAGG 0.587000 TAS2R14 50840 broad.mit.edu 37 12 11091143 11091143 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:11091143C>T uc010shi.1 - 1 664 c.664G>A c.(664-666)GCC>ACC p.A222T PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_RNA NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 222 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 TTGGTGCTGGCGTCTCCGGAT 0.438000 ETV6 2120 broad.mit.edu 37 12 11905513 11905513 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:11905513C>T uc001qzz.2 + 2 437 c.163C>T c.(163-165)CGC>TGC p.R55C NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 55 PNT. Breakpoint for translocation to form ETV6-MDS2 in MDS.|Breakpoint for translocation to form PAX5-ETV6. 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) TGCGCACCTGCGTGAGTGTTC 0.647000 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 SYT10 341359 broad.mit.edu 37 12 33592643 33592643 + Translation_Start_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:33592643G>A uc001rll.1 - 1 112 c.-185C>T c.(-187--183)TACGC>TATGC SYT10_uc009zju.1_Translation_Start_Site NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AGCGGAGGGCGTAGGGGAAGG 0.701000 ANO6 196527 broad.mit.edu 37 12 45740868 45740868 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:45740868T>C uc001roo.2 + 4 678 c.343T>C c.(343-345)TCA>CCA p.S115P ANO6_uc010sld.1_Missense_Mutation_p.S115P|ANO6_uc010sle.1_Missense_Mutation_p.S115P|ANO6_uc010slf.1_Missense_Mutation_p.S136P|ANO6_uc010slg.1_Missense_Mutation_p.S97P NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 115 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 AGCAACAAGATCAGTAAGTAC 0.458000 FKBP11 51303 broad.mit.edu 37 12 49317602 49317602 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:49317602C>A uc001rsp.2 - 5 470 c.351G>T c.(349-351)TTG>TTT p.L117F FKBP11_uc010sma.1_Missense_Mutation_p.L15F|FKBP11_uc001rsq.3_3'UTR|FKBP11_uc010smb.1_Missense_Mutation_p.L117F NM_016594 NP_057678 Q9NYL4 FKB11_HUMAN FK506 binding protein 11 isoform 1 precursor 117 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TTCCATAGGCCAAGTGAGAAG 0.522000 ESPL1 9700 broad.mit.edu 37 12 53685483 53685483 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:53685483A>G uc001sck.2 + 26 5621 c.5530A>G c.(5530-5532)AGT>GGT p.S1844G ESPL1_uc001scj.2_Missense_Mutation_p.S1519G NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1844 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GATCATGCTCAGTGGTGCCGG 0.562000 PCBP2 5094 broad.mit.edu 37 12 53861054 53861054 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:53861054C>T uc001sdl.3 + 11 1126 c.776C>T c.(775-777)ACG>ATG p.T259M PCBP2_uc001sdc.3_Missense_Mutation_p.T259M|PCBP2_uc001sdb.3_Missense_Mutation_p.T255M|PCBP2_uc001sde.3_Missense_Mutation_p.T255M|PCBP2_uc001sdi.3_Missense_Mutation_p.T228M|PCBP2_uc001sdd.3_Missense_Mutation_p.T224M|PCBP2_uc001sdf.3_Missense_Mutation_p.T224M|PCBP2_uc009zna.2_Missense_Mutation_p.T216M|PCBP2_uc010soi.1_Missense_Mutation_p.T9M|PCBP2_uc001sdj.3_Missense_Mutation_p.T9M|PCBP2_uc010soj.1_Missense_Mutation_p.T9M|PCBP2_uc001sdk.3_Missense_Mutation_p.T44M|PCBP2_uc010soh.1_Missense_Mutation_p.T255M NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 259 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 TTTCCCATGACGCATGGCAAC 0.488000 TARBP2 6895 broad.mit.edu 37 12 53897560 53897560 + Silent SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:53897560T>A uc001sdo.2 + 4 878 c.390T>A c.(388-390)GCT>GCA p.A130A TARBP2_uc009znb.2_Silent_p.A130A|TARBP2_uc001sdp.2_Silent_p.A109A|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_5'UTR|TARBP2_uc001sds.2_Silent_p.A130A|TARBP2_uc001sdt.2_Silent_p.A109A|TARBP2_uc001sdu.2_5'UTR|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 130 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 CTGCAGCAGCTGCTACCCCAG 0.542000 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:56478854G>A uc001sjh.2 + 3 503 c.310G>A c.(310-312)GTG>ATG p.V104M ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517000 ESYT1 23344 broad.mit.edu 37 12 56526318 56526318 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:56526318C>A uc001sjq.2 + 9 1148 c.1098C>A c.(1096-1098)ACC>ACA p.T366T ESYT1_uc001sjr.2_Silent_p.T366T NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 366 C2 1. integral to membrane ovary(4)|skin(1) 5 GTTTGGGTACCCAGACATTCT 0.522000 BEST3 144453 broad.mit.edu 37 12 70070963 70070963 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:70070963G>A uc001svg.2 - 6 938 c.711C>T c.(709-711)ACC>ACT p.T237T BEST3_uc001svd.1_Silent_p.T237T|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.T75T|BEST3_uc010stm.1_Silent_p.T131T|BEST3_uc001svh.2_Silent_p.T75T NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 237 chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTCTTACCTGGGTGTAAACCA 0.483000 CAPS2 84698 broad.mit.edu 37 12 75692669 75692669 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:75692669C>T uc001sxk.3 - 11 1186 c.989G>A c.(988-990)CGA>CAA p.R330Q CAPS2_uc001sxm.3_Missense_Mutation_p.R98Q|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.R311Q NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 330 calcium ion binding ovary(2) 2 CCCAAATTGTCGATATTCATA 0.338000 PPP1R12A 4659 broad.mit.edu 37 12 80190590 80190590 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:80190590G>A uc001syz.2 - 17 2700 c.2433C>T c.(2431-2433)TCC>TCT p.S811S PPP1R12A_uc010suc.1_Silent_p.S724S|PPP1R12A_uc001sza.2_Silent_p.S755S|PPP1R12A_uc010sud.1_Silent_p.S811S|PPP1R12A_uc001szb.2_Silent_p.S811S NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 811 Interaction with ROCK2. contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 TTATTCCTCTGGAGTAAGCAG 0.353000 ANKS1B 56899 broad.mit.edu 37 12 99837450 99837450 + Splice_Site SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:99837450C>A uc001tge.1 - 11 1992 c.1575_splice c.e11+1 p.Q525_splice ANKS1B_uc001tgf.1_Splice_Site_p.Q105_splice|ANKS1B_uc009ztt.1_Splice_Site_p.Q491_splice NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGGGCACTTACCTGGGGTCGA 0.413000 SCYL2 55681 broad.mit.edu 37 12 100732521 100732521 + Silent SNP C C T rs149703920 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:100732521C>T uc001thn.2 + 18 2411 c.2361C>T c.(2359-2361)CCC>CCT p.P787P NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 787 Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TCAACATGCCCGTTAATACAA 0.408000 NR1H4 9971 broad.mit.edu 37 12 100957258 100957258 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:100957258C>T uc001tht.1 + 9 1480 c.1452C>T c.(1450-1452)GAC>GAT p.D484D NR1H4_uc001thp.1_Silent_p.D470D|NR1H4_uc001thq.1_Silent_p.D474D|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.D474D|NR1H4_uc010svk.1_Silent_p.D423D|NR1H4_uc001ths.1_Silent_p.D480D NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 484 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AAATCTGGGACGTGCAGTGAT 0.433000 ANO4 121601 broad.mit.edu 37 12 101488050 101488050 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:101488050C>T uc010svm.1 + 18 2290 c.1718C>T c.(1717-1719)GCC>GTC p.A573V ANO4_uc001thw.2_Missense_Mutation_p.A538V|ANO4_uc001thx.2_Missense_Mutation_p.A573V|ANO4_uc001thy.2_Missense_Mutation_p.A93V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 573 Extracellular (Potential). chloride channel complex chloride channel activity p.T573I(1) ovary(4)|skin(2) 6 GAAAAAGTTGCCCTGCTTCTG 0.338000 HNSCC(74;0.22) MYBPC1 4604 broad.mit.edu 37 12 102046519 102046519 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:102046519T>C uc001tii.2 + 15 1617 c.1515T>C c.(1513-1515)CCT>CCC p.P505P MYBPC1_uc001tig.2_Silent_p.P530P|MYBPC1_uc010svq.1_Silent_p.P492P|MYBPC1_uc001tih.2_Silent_p.P530P|MYBPC1_uc001tij.2_Silent_p.P505P|MYBPC1_uc010svr.1_Silent_p.P505P|MYBPC1_uc010svs.1_Silent_p.P505P|MYBPC1_uc010svt.1_Silent_p.P493P|MYBPC1_uc010svu.1_Silent_p.P486P|MYBPC1_uc001tik.2_Silent_p.P479P NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 505 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TATTTGCACCTGATGCCTACA 0.363000 UBE3B 89910 broad.mit.edu 37 12 109935661 109935661 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:109935661G>A uc001top.2 + 10 1355 c.752G>A c.(751-753)CGG>CAG p.R251Q UBE3B_uc001toq.2_Missense_Mutation_p.R251Q|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R251Q NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 251 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 AATCTGATTCGGCCGTTCCTC 0.517000 ATP2A2 488 broad.mit.edu 37 12 110778544 110778544 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:110778544G>A uc001tqk.3 + 14 2405 c.1842G>A c.(1840-1842)CGG>CGA p.R614R ATP2A2_uc001tql.3_Silent_p.R614R|ATP2A2_uc010sxy.1_Silent_p.R587R NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 614 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 AGCTGTGCCGGCAAGCAGGCA 0.577000 C12orf51 283450 broad.mit.edu 37 12 112681729 112681729 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:112681729T>G uc009zwc.2 - 23 3350 c.3332A>C c.(3331-3333)GAC>GCC p.D1111A NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CATTTCCAGGTCAGAAGGAGC 0.428000 OAS3 4940 broad.mit.edu 37 12 113405292 113405292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:113405292C>T uc001tug.2 + 13 2846 c.2759C>T c.(2758-2760)GCG>GTG p.A920V NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 920 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 TACAGCAATGCGGGCGAGTAC 0.577000 LHX5 64211 broad.mit.edu 37 12 113905192 113905192 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:113905192C>T uc001tvj.1 - 4 1284 c.710G>A c.(709-711)CGG>CAG p.R237Q NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 237 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTGTTTCATCCGGCGTTCTTT 0.652000 RBM19 9904 broad.mit.edu 37 12 114377796 114377796 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:114377796C>T uc009zwi.2 - 15 2051 c.1907G>A c.(1906-1908)CGC>CAC p.R636H RBM19_uc001tvn.3_Missense_Mutation_p.R636H|RBM19_uc001tvm.2_Missense_Mutation_p.R636H NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 636 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAAGGCCTTGCGGGCCTCCAG 0.622000 RBM19 9904 broad.mit.edu 37 12 114383685 114383685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:114383685G>A uc009zwi.2 - 13 1718 c.1574C>T c.(1573-1575)GCC>GTC p.A525V RBM19_uc001tvn.3_Missense_Mutation_p.A525V|RBM19_uc001tvm.2_Missense_Mutation_p.A525V NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 525 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GATGGCATCGGCCACGGCATT 0.562000 FBXO21 23014 broad.mit.edu 37 12 117595815 117595815 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:117595815C>T uc001twk.2 - 10 1440 c.1401G>A c.(1399-1401)GCG>GCA p.A467A FBXO21_uc001twj.2_Silent_p.A460A|FBXO21_uc009zwq.2_Silent_p.A400A|FBXO21_uc001twl.1_Silent_p.A80A NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 467 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) GGTAGCCCACCGCCCCGTGCT 0.532000 NOS1 4842 broad.mit.edu 37 12 117728108 117728108 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:117728108T>C uc001twm.1 - 4 1662 c.976A>G c.(976-978)ACA>GCA p.T326A NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 326 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTACCAATGTGCTCTTAAGG 0.383000 GCN1L1 10985 broad.mit.edu 37 12 120575043 120575043 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:120575043G>A uc001txo.2 - 50 6757 c.6744C>T c.(6742-6744)GGC>GGT p.G2248G NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2248 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCACATGCTCGCCTTTGCTCT 0.577000 EP400 57634 broad.mit.edu 37 12 132504737 132504737 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:132504737C>T uc001ujn.2 + 21 4456 c.4421C>T c.(4420-4422)ACG>ATG p.T1474M EP400_uc001ujl.2_Missense_Mutation_p.T1473M|EP400_uc001ujm.2_Missense_Mutation_p.T1474M NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1510 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) CCCATCGCCACGTTCTCTGCC 0.617000 DDX51 317781 broad.mit.edu 37 12 132624721 132624721 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:132624721G>A uc001ujy.3 - 12 1736 c.1697C>T c.(1696-1698)GCG>GTG p.A566V NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 566 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GATGCCTCGCGCGGTGGCGTC 0.711000 P2RX2 22953 broad.mit.edu 37 12 133197075 133197075 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:133197075C>T uc001ukj.1 + 7 680 c.680C>T c.(679-681)ACG>ATG p.T227M P2RX2_uc001uki.1_Missense_Mutation_p.T227M|P2RX2_uc001ukk.1_Missense_Mutation_p.T227M|P2RX2_uc001ukl.1_Missense_Mutation_p.T203M|P2RX2_uc001ukm.1_Missense_Mutation_p.T155M|P2RX2_uc001ukn.1_Missense_Mutation_p.T135M|P2RX2_uc009zyt.1_Missense_Mutation_p.T227M|P2RX2_uc001uko.1_Silent_p.H191H NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 227 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) AAGCGCTGCACGTTCCACGAG 0.627000 GJB6 10804 broad.mit.edu 37 13 20797605 20797605 + Silent SNP C C T rs150075979 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:20797605C>T uc001umz.3 - 3 568 c.15G>A c.(13-15)ACG>ACA p.T5T GJB6_uc001unc.3_Silent_p.T5T|GJB6_uc001una.3_Silent_p.T5T|GJB6_uc001und.3_Silent_p.T5T|GJB6_uc001unb.3_Silent_p.T5T NM_006783 NP_006774 O95452 CXB6_HUMAN gap junction protein, beta 6 5 Cytoplasmic (Potential). T -> M (in DFNA3B). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle ovary(1) 1 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) AAGTGTGCAGCGTCCCCCAAT 0.488000 CRYL1 51084 broad.mit.edu 37 13 21006292 21006292 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:21006292A>G uc001une.2 - 5 661 c.582T>C c.(580-582)GTT>GTC p.V194V CRYL1_uc001unf.2_Silent_p.V172V|CRYL1_uc001ung.2_Silent_p.V172V|CRYL1_uc010tcp.1_Silent_p.V68V NM_015974 NP_057058 Q9Y2S2 CRYL1_HUMAN lambda-crystallin 194 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity 0 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) GGCGGTTCAGAACGAAGCCGG 0.502000 XPO4 64328 broad.mit.edu 37 13 21396279 21396279 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:21396279A>G uc001unq.3 - 8 1026 c.990T>C c.(988-990)ACT>ACC p.T330T NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 330 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ACCCATTGATAGTATTCAGTA 0.403000 SACS 26278 broad.mit.edu 37 13 23905616 23905616 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:23905616A>G uc001uon.2 - 10 12988 c.12399T>C c.(12397-12399)GGT>GGC p.G4133G SACS_uc001uoo.2_Silent_p.G3986G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4133 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAGTTTCTCACCAATCCTGT 0.378000 SOHLH2 54937 broad.mit.edu 37 13 36776016 36776016 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:36776016C>T uc001uvj.2 - 2 352 c.263G>A c.(262-264)AGA>AAA p.R88K SOHLH2_uc010tei.1_Missense_Mutation_p.R165K NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 88 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TGAAGTTTACCTAATTAACTT 0.348000 RCBTB2 1102 broad.mit.edu 37 13 49076918 49076918 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:49076918A>G uc001vch.2 - 11 1430 c.1059T>C c.(1057-1059)ACT>ACC p.T353T RCBTB2_uc010tgg.1_Silent_p.T358T|RCBTB2_uc001vci.2_Silent_p.T329T|RCBTB2_uc010tgh.1_Silent_p.T79T|RCBTB2_uc001vcj.2_Silent_p.T305T|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Nonstop_Mutation_p.*282R NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 353 RCC1 6. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ACACGTCGTCAGTGCAGGAGA 0.632000 TBC1D4 9882 broad.mit.edu 37 13 75936261 75936261 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:75936261G>A uc001vjl.1 - 2 1328 c.981C>T c.(979-981)CAC>CAT p.H327H TBC1D4_uc010aer.2_Silent_p.H327H|TBC1D4_uc010aes.2_Silent_p.H327H NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 327 PID 2. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GGCTGCCCTCGTGAACTCTCC 0.602000 MYCBP2 23077 broad.mit.edu 37 13 77755927 77755927 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:77755927C>T uc001vkf.2 - 34 4827 c.4736G>A c.(4735-4737)CGA>CAA p.R1579Q MYCBP2_uc010aev.2_Missense_Mutation_p.R983Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AACAATTGATCGTAGTAATAC 0.443000 SLITRK5 26050 broad.mit.edu 37 13 88329003 88329003 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:88329003G>A uc001vln.2 + 2 1579 c.1360G>A c.(1360-1362)GGG>AGG p.G454R SLITRK5_uc010tic.1_Missense_Mutation_p.G213R NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 454 Extracellular (Potential).|LRR 8. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGCGCTTTCGGGGATCTCAC 0.597000 UGGT2 55757 broad.mit.edu 37 13 96513099 96513099 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:96513099T>C uc001vmt.2 - 32 3853 c.3683A>G c.(3682-3684)AAA>AGA p.K1228R NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1228 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TAGGACATCTTTTTCCTTTTT 0.254000 RNF113B 140432 broad.mit.edu 37 13 98829237 98829237 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:98829237G>A uc001vnk.2 - 1 285 c.254C>T c.(253-255)GCG>GTG p.A85V FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 85 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CTCAGGCGCCGCCTCCTCGCC 0.726000 ERCC5 2073 broad.mit.edu 37 13 103514608 103514608 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:103514608G>A uc001vpw.2 + 8 1552 c.1109G>A c.(1108-1110)CGT>CAT p.R370H ERCC5_uc001vpu.1_Missense_Mutation_p.R824H|ERCC5_uc010tjb.1_Missense_Mutation_p.R370H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R202H NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 370 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGCAGGCCCGTGGGAGGAAC 0.527000 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum MYO16 23026 broad.mit.edu 37 13 109779875 109779875 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:109779875C>T uc001vqt.1 + 31 4088 c.3962C>T c.(3961-3963)GCG>GTG p.A1321V MYO16_uc010agk.1_Missense_Mutation_p.A1343V|MYO16_uc010tjh.1_Missense_Mutation_p.A833V NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1321 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TGCCTCTCCGCGGCCAGGGAA 0.682000 ING1 3621 broad.mit.edu 37 13 111371946 111371946 + Silent SNP C C T rs142623633 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:111371946C>T uc001vri.2 + 2 1368 c.936C>T c.(934-936)GAC>GAT p.D312D ING1_uc001vrf.2_Silent_p.D125D|ING1_uc001vrg.2_Silent_p.D100D|ING1_uc001vrh.2_Silent_p.D169D NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 312 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) ACGACCACGACGACGGCGCCT 0.662000 GRK1 6011 broad.mit.edu 37 13 114324053 114324053 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:114324053G>A uc010tkf.1 + 2 859 c.751G>A c.(751-753)GTG>ATG p.V251M NM_002929 NP_002920 Q15835 RK_HUMAN rhodopsin kinase precursor 251 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CAGGTTCATCGTGTCTCTGGC 0.517000 FAM70B 348013 broad.mit.edu 37 13 114507955 114507955 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:114507955C>T uc001vuh.2 + 8 794 c.767C>T c.(766-768)ACG>ATG p.T256M NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 256 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) TTCCGCCTGACGCCCGAGCCC 0.672000 OR11H4 390442 broad.mit.edu 37 14 20711039 20711039 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:20711039G>A uc010tld.1 + 1 89 c.89G>A c.(88-90)TGC>TAC p.C30Y NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 30 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TTCCCTGGTTGCTGGAAGATT 0.428000 FLJ10357 55701 broad.mit.edu 37 14 21543173 21543173 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:21543173C>T uc001vzp.2 + 3 1313 c.1284C>T c.(1282-1284)TGC>TGT p.C428C FLJ10357_uc001vzn.1_Silent_p.C428C|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Intron NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 428 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) TTCCAGAATGCCACCTGGTTA 0.552000 PABPN1 8106 broad.mit.edu 37 14 23793419 23793419 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:23793419G>A uc001wjk.2 + 6 2084 c.802G>A c.(802-804)GCC>ACC p.A268T PABPN1_uc001wjh.3_Missense_Mutation_p.A295T|PABPN1_uc001wjj.2_Missense_Mutation_p.A268T NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 268 Necessary for homooligomerization. modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CCGCTACCGCGCCCGGACCAC 0.567000 CPNE6 9362 broad.mit.edu 37 14 24546187 24546187 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:24546187C>T uc001wll.2 + 14 1364 c.1265C>T c.(1264-1266)CCG>CTG p.P422L CPNE6_uc010tnv.1_Missense_Mutation_p.P477L|CPNE6_uc001wlm.2_Missense_Mutation_p.P247L|CPNE6_uc001wln.2_Missense_Mutation_p.P90L NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 422 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) GTGGCTGAGCCGGCCCAGCGG 0.637000 FAM158A 51016 broad.mit.edu 37 14 24610340 24610340 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:24610340G>A uc001wmi.2 - 2 337 c.174C>T c.(172-174)GTC>GTT p.V58V NM_016049 NP_057133 Q9Y3B6 F158A_HUMAN hypothetical protein LOC51016 58 0 CCTCCAACATGACGGACAGGG 0.652000 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SDR39U1 56948 broad.mit.edu 37 14 24909989 24909989 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:24909989C>A uc001wpm.2 - 5 504 c.472G>T c.(472-474)GGG>TGG p.G158W KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpj.2_Missense_Mutation_p.G76W|SDR39U1_uc001wpk.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpl.2_Missense_Mutation_p.G103W|SDR39U1_uc001wpn.2_5'UTR|uc001wpo.1_5'Flank NM_020195 NP_064580 Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, 184 binding pancreas(1) 1 CGTTTCTCACCTGAGCGCACC 0.532000 CTSG 1511 broad.mit.edu 37 14 25042923 25042923 + Silent SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:25042923T>G uc001wpq.2 - 5 725 c.688A>C c.(688-690)AGG>CGG p.R230R NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 230 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CTTGAGACCCTGGTGAAGACT 0.552000 HECTD1 25831 broad.mit.edu 37 14 31592235 31592235 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:31592235C>T uc001wrc.1 - 27 5489 c.5000G>A c.(4999-5001)CGT>CAT p.R1667H HECTD1_uc001wra.1_Translation_Start_Site|HECTD1_uc001wrb.1_Translation_Start_Site|HECTD1_uc001wrd.1_Missense_Mutation_p.R1135H NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1667 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGTACTGGCACGGCAGCTATC 0.393000 NKX2-8 26257 broad.mit.edu 37 14 37051560 37051560 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:37051560C>T uc001wtx.2 - 1 227 c.35G>A c.(34-36)CGC>CAC p.R12H NM_014360 NP_055175 O15522 NKX28_HUMAN NK2 homeobox 8 12 liver development|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0171) TAGAAGGCTGCGCACGGTGAA 0.726000 FSCB 84075 broad.mit.edu 37 14 44974339 44974339 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:44974339C>G uc001wvn.2 - 1 2161 c.1852G>C c.(1852-1854)GCC>CCC p.A618P NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 618 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TCAGCGGGGGCCTCCTCAGCT 0.617000 GPR135 64582 broad.mit.edu 37 14 59930838 59930838 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:59930838G>A uc010apj.2 - 1 1222 c.1107C>T c.(1105-1107)AGC>AGT p.S369S GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 369 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) CGGCCACCACGCTGAGGAGCG 0.657000 GPR135 64582 broad.mit.edu 37 14 59930957 59930957 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:59930957C>T uc010apj.2 - 1 1103 c.988G>A c.(988-990)GCC>ACC p.A330T GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 330 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) ACGGTGGTGGCCGTGCGCACC 0.672000 RTN1 6252 broad.mit.edu 37 14 60074118 60074118 + Missense_Mutation SNP C C T rs143124571 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:60074118C>T uc001xen.1 - 4 2067 c.1858G>A c.(1858-1860)GTG>ATG p.V620M RTN1_uc001xem.1_Missense_Mutation_p.V200M|RTN1_uc001xek.1_Missense_Mutation_p.V52M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.V37M NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 620 Reticulon.|Helical; (Potential). neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) ACGCTCACCACGCTGAACTGG 0.557000 SNAPC1 6617 broad.mit.edu 37 14 62234021 62234021 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:62234021G>A uc001xft.2 + 3 484 c.380G>A c.(379-381)AGG>AAG p.R127K NM_003082 NP_003073 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, 127 SNAPC3-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) TATATTTTTAGGAAGCTACGA 0.343000 SYNE2 23224 broad.mit.edu 37 14 64518335 64518335 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:64518335A>G uc001xgm.2 + 48 7934 c.7704A>G c.(7702-7704)GAA>GAG p.E2568E SYNE2_uc001xgl.2_Silent_p.E2568E NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2568 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CATCCATAGAAAAAGAGAAAG 0.323000 GPHN 10243 broad.mit.edu 37 14 66975270 66975270 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:66975270A>G uc001xiy.2 + 1 1146 c.25A>G c.(25-27)ACT>GCT p.T9A GPHN_uc001xiw.2_Missense_Mutation_p.T9A|GPHN_uc001xix.2_Missense_Mutation_p.T9A|GPHN_uc010tss.1_Missense_Mutation_p.T9A|GPHN_uc010tst.1_Missense_Mutation_p.T9A|uc010tsr.1_5'Flank NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 9 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AATGATCCTTACTAACCACGA 0.622000 T MLL AL C14orf115 55237 broad.mit.edu 37 14 74823869 74823869 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:74823869T>C uc001xpw.3 + 2 574 c.383T>C c.(382-384)GTG>GCG p.V128A NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 128 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GACTCCAAAGTGATGCTGCAG 0.637000 RPS6KL1 83694 broad.mit.edu 37 14 75376342 75376342 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:75376342A>G uc010tux.1 - 7 1702 c.1174T>C c.(1174-1176)TGG>CGG p.W392R RPS6KL1_uc001xqx.1_Missense_Mutation_p.W144R|RPS6KL1_uc001xqw.2_Missense_Mutation_p.W361R|RPS6KL1_uc010asd.1_RNA NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 392 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) TCTGCCGCCCACTGCTTCACC 0.687000 EML5 161436 broad.mit.edu 37 14 89123848 89123848 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:89123848T>C uc001xxg.2 - 28 4064 c.3878_splice c.e28-1 p.G1293_splice EML5_uc001xxf.2_Splice_Site_p.G88_splice|EML5_uc001xxh.1_Splice_Site_p.G432_splice NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like cytoplasm|microtubule ovary(3) 3 TGTCATAGCCTACAATAAAAA 0.264000 FBLN5 10516 broad.mit.edu 37 14 92353624 92353624 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:92353624C>T uc001xzx.3 - 7 1125 c.652G>A c.(652-654)GTG>ATG p.V218M FBLN5_uc010aud.2_Missense_Mutation_p.V223M|FBLN5_uc010aue.2_Missense_Mutation_p.V259M NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 218 EGF-like 4; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) CAGGTTTGCACGCAGGGGTTC 0.517000 TNFAIP2 7127 broad.mit.edu 37 14 103598068 103598068 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:103598068C>T uc001ymm.1 + 7 1522 c.1391C>T c.(1390-1392)ACC>ATC p.T464I TNFAIP2_uc010awo.1_Missense_Mutation_p.T176I|TNFAIP2_uc010txz.1_Missense_Mutation_p.T133I|TNFAIP2_uc010tya.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 464 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) GGCTTTGACACCCTGCTCCAG 0.642000 AHNAK2 113146 broad.mit.edu 37 14 105411993 105411993 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:105411993G>A uc010axc.1 - 7 9915 c.9795C>T c.(9793-9795)CCC>CCT p.P3265P AHNAK2_uc001ypx.2_Silent_p.P3165P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3265 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCCACGTCGGGGGCCGTCA 0.627000 ATP10A 57194 broad.mit.edu 37 15 26107859 26107859 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:26107859C>T uc010ayu.2 - 1 491 c.385G>A c.(385-387)GAG>AAG p.E129K ATP10A_uc001zax.2_RNA NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 129 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTGTAGTCCTCCCACAGGTCC 0.687000 HERC2 8924 broad.mit.edu 37 15 28493822 28493822 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:28493822A>G uc001zbj.2 - 21 3217 c.3111T>C c.(3109-3111)TGT>TGC p.C1037C NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1037 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) CAAAGTCCAGACATGATGAAA 0.373000 PPP1R14D 54866 broad.mit.edu 37 15 41120845 41120845 + Translation_Start_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:41120845T>C uc001zmy.2 - 1 63 c.-5A>G c.(-7--3)ATACT>ATGCT PPP1R14D_uc001zmz.2_Translation_Start_Site NM_017726 NP_060196 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory subunit 14D regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity 0 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) AGCATGGAAGTATTGGTCTGG 0.552000 ZFP106 64397 broad.mit.edu 37 15 42717190 42717190 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:42717190C>A uc001zpw.2 - 13 5298 c.4963G>T c.(4963-4965)GGC>TGC p.G1655C ZFP106_uc001zpu.2_Missense_Mutation_p.G753C|ZFP106_uc001zpv.2_Missense_Mutation_p.G840C|ZFP106_uc001zpx.2_Missense_Mutation_p.G883C NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1655 WD 3. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GCCCGAGGGCCATGGCATTCA 0.468000 CDAN1 146059 broad.mit.edu 37 15 43022830 43022830 + Missense_Mutation SNP G G A rs80338696 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:43022830G>A uc001zql.2 - 14 2257 c.2140C>T c.(2140-2142)CGG>TGG p.R714W CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.T39T NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 714 R -> W (in CDA1). integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AAGATGTCCCGGTAATATTCC 0.597000 PDIA3 2923 broad.mit.edu 37 15 44063406 44063406 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:44063406A>G uc001zsu.2 + 13 1656 c.1508A>G c.(1507-1509)GAG>GGG p.E503G PDIA3_uc010bdp.2_Missense_Mutation_p.E483G|PDIA3_uc010ued.1_Missense_Mutation_p.E277G NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 503 Prevents secretion from ER (By similarity). cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AAGGCACAGGAGGATCTCTAA 0.418000 DUOX1 53905 broad.mit.edu 37 15 45431269 45431269 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:45431269A>G uc001zus.1 + 12 1465 c.1119A>G c.(1117-1119)CCA>CCG p.P373P DUOX1_uc001zut.1_Silent_p.P373P|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 373 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TAAAGCACCCAAGCCTACAAA 0.567000 SEMA6D 80031 broad.mit.edu 37 15 48056471 48056471 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:48056471G>A uc010bek.2 + 11 1426 c.1066G>A c.(1066-1068)GCA>ACA p.A356T SEMA6D_uc001zvw.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvx.1_Missense_Mutation_p.A356T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwa.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwb.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A356T NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 356 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGTTTGGACAGCAGTTCCCGA 0.423000 FBN1 2200 broad.mit.edu 37 15 48762843 48762843 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:48762843C>T uc001zwx.1 - 36 4775 c.4447G>A c.(4447-4449)GGG>AGG p.G1483R FBN1_uc010beo.1_5'Flank NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1483 EGF-like 25; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTGCAGTTCCCGCCGCTTCTG 0.582000 AP4E1 23431 broad.mit.edu 37 15 51260544 51260544 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:51260544C>T uc001zyx.1 + 15 1966 c.1936C>T c.(1936-1938)CGC>TGC p.R646C NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 646 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TCCCCATCAACGCCAGGAGGA 0.378000 DMXL2 23312 broad.mit.edu 37 15 51792058 51792058 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:51792058T>C uc002abf.2 - 18 3588 c.3363A>G c.(3361-3363)CAA>CAG p.Q1121Q DMXL2_uc010ufy.1_Silent_p.Q1121Q|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1121 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GATGAATTGTTTGTTCTAAAA 0.378000 WDR72 256764 broad.mit.edu 37 15 54005019 54005019 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:54005019A>G uc002acj.2 - 7 703 c.661T>C c.(661-663)TGC>CGC p.C221R WDR72_uc010bfi.1_Missense_Mutation_p.C221R NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 221 lung(1)|skin(1) 2 all cancers(107;0.0511) GTATATGTGCAAAATCGAATT 0.308000 RAB27A 5873 broad.mit.edu 37 15 55497750 55497750 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:55497750C>T uc002aco.2 - 7 854 c.621G>A c.(619-621)ACG>ACA p.T207T RAB27A_uc002acr.2_Silent_p.T207T|RAB27A_uc002acp.2_Silent_p.T207T|RAB27A_uc002acq.2_Silent_p.T207T NM_183234 NP_899057 P51159 RB27A_HUMAN Ras-related protein Rab-27A 207 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity ovary(1) 1 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TTAACTGATCCGTAGAGGCAT 0.483000 ANXA2 302 broad.mit.edu 37 15 60674549 60674549 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:60674549T>G uc002agn.2 - 4 300 c.140A>C c.(139-141)AAG>ACG p.K47T ANXA2_uc002agk.2_Missense_Mutation_p.K47T|ANXA2_uc002agl.2_Missense_Mutation_p.K47T|ANXA2_uc002agm.2_Missense_Mutation_p.K65T|ANXA2_uc010uhd.1_RNA|ANXA2_uc010bgj.2_Missense_Mutation_p.K47T NM_001136015 NP_001129487 P07355 ANXA2_HUMAN annexin A2 isoform 2 47 Annexin 1. angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) ACCTTTGGTCTTGATGGCTGT 0.448000 DPP8 54878 broad.mit.edu 37 15 65771345 65771345 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:65771345A>G uc002aov.2 - 11 2955 c.1377T>C c.(1375-1377)AGT>AGC p.S459S DPP8_uc002aow.2_Silent_p.S459S|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.S443S|DPP8_uc002aoy.2_Silent_p.S459S|DPP8_uc002aoz.2_Silent_p.S443S|DPP8_uc010bhj.2_Silent_p.S459S|DPP8_uc002apa.2_Silent_p.S356S|DPP8_uc010bhk.1_Intron NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 459 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 CCTCTTCGTGACTTTGGGGAA 0.289000 PML 5371 broad.mit.edu 37 15 74336586 74336586 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:74336586C>T uc002awv.2 + 9 2026 c.1886C>T c.(1885-1887)GCG>GTG p.A629V PML_uc002awu.2_Missense_Mutation_p.A581V|PML_uc010ule.1_Missense_Mutation_p.A190V NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 629 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 CAGCTGGCTGCGGTGAACCGG 0.627000 T RARA|PAX5 APL|ALL SIN3A 25942 broad.mit.edu 37 15 75687179 75687179 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:75687179G>A uc002bai.2 - 14 2378 c.2119C>T c.(2119-2121)CGA>TGA p.R707* SIN3A_uc002baj.2_Nonsense_Mutation_p.R707*|SIN3A_uc010uml.1_Nonsense_Mutation_p.R707* NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 707 Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TGAGCTTCTCGCCATTCTTCC 0.423000 ZNF592 9640 broad.mit.edu 37 15 85341639 85341639 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:85341639C>T uc002bld.2 + 7 3006 c.2670C>T c.(2668-2670)GGC>GGT p.G890G ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 890 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGCAGGTGGGCGTCTTCAAGT 0.532000 ACAN 176 broad.mit.edu 37 15 89398171 89398171 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:89398171G>T uc010upo.1 + 12 2729 c.2355G>T c.(2353-2355)GAG>GAT p.E785D ACAN_uc010upp.1_Missense_Mutation_p.E785D|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 785 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGCCTCAGAGGAACCATCCC 0.582000 CHD2 1106 broad.mit.edu 37 15 93528850 93528850 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:93528850G>A uc002bsp.2 + 26 3935 c.3360G>A c.(3358-3360)CCG>CCA p.P1120P CHD2_uc002bso.1_Silent_p.P1120P NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1120 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAGGGCGTCCGAGGAGTGTGC 0.532000 MCTP2 55784 broad.mit.edu 37 15 94983445 94983445 + Missense_Mutation SNP T T C rs34897570 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:94983445T>C uc002btj.2 + 17 2191 c.2126T>C c.(2125-2127)ATC>ACC p.I709T MCTP2_uc010boj.2_Missense_Mutation_p.I438T|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.I297T NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 709 Helical; (Potential). calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CTATATATGATCCCCTTGGCA 0.413000 LINS1 55180 broad.mit.edu 37 15 101110170 101110170 + Nonsense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:101110170G>T uc002bwe.2 - 8 1838 c.1547C>A c.(1546-1548)TCA>TAA p.S516* LINS1_uc002bwd.2_Nonsense_Mutation_p.S103*|LINS1_uc002bwf.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwg.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwh.2_Nonsense_Mutation_p.S516* NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 516 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) ACAGGTTTCTGATGAAATCAA 0.299000 NME3 4832 broad.mit.edu 37 16 1820969 1820969 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:1820969C>T uc002cmm.2 - 4 480 c.305G>A c.(304-306)CGC>CAC p.R102H NME3_uc010brv.2_RNA|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_002513 NP_002504 Q13232 NDK3_HUMAN nucleoside diphosphate kinase 3 102 apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 CCGCGAGGTGCGCACCACGTC 0.726000 HS3ST6 64711 broad.mit.edu 37 16 1961987 1961987 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:1961987G>A uc002cnf.2 - 2 540 c.540C>T c.(538-540)CAC>CAT p.H180H NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 180 0 GGCCCAGGCCGTGGCGGAAGG 0.716000 CCNF 899 broad.mit.edu 37 16 2481176 2481176 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:2481176G>A uc002cqd.1 + 2 150 c.62G>A c.(61-63)CGA>CAA p.R21Q CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 21 Nuclear localization signal 1. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) CCTACAAAGCGAAGAATAAGG 0.443000 CCNF 899 broad.mit.edu 37 16 2489443 2489443 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:2489443C>T uc002cqd.1 + 7 772 c.684C>T c.(682-684)AGC>AGT p.S228S CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 228 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) TCTGGGAAAGCGACAGGAGGA 0.552000 MMP25 64386 broad.mit.edu 37 16 3100297 3100297 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:3100297C>T uc002cth.2 + 4 648 c.411C>T c.(409-411)ACC>ACT p.T137T MMP25_uc002cti.1_Silent_p.T73T NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 137 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 GCCAGGAGACCGTGCGGGTCC 0.637000 NLRC3 197358 broad.mit.edu 37 16 3613679 3613679 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:3613679A>C uc010btn.2 - 5 1670 c.1259T>G c.(1258-1260)ATG>AGG p.M420R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 420 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAACGCCTTCATGTCTTGCTC 0.592000 BTBD12 84464 broad.mit.edu 37 16 3641292 3641292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:3641292C>T uc002cvp.2 - 12 2974 c.2347G>A c.(2347-2349)GTT>ATT p.V783I NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 783 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CACAGGTGAACGAGCTCACTC 0.587000 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia OREG0032061 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) A2BP1 54715 broad.mit.edu 37 16 7680608 7680608 + Missense_Mutation SNP C C T rs145006582 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:7680608C>T uc002cys.2 + 11 1668 c.680C>T c.(679-681)ACG>ATG p.T227M A2BP1_uc010buf.1_Missense_Mutation_p.T227M|A2BP1_uc002cyr.1_Missense_Mutation_p.T226M|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Missense_Mutation_p.T270M|A2BP1_uc010uya.1_Missense_Mutation_p.T184M|A2BP1_uc002cyv.1_Missense_Mutation_p.T227M|A2BP1_uc010uyb.1_Missense_Mutation_p.T227M|A2BP1_uc002cyw.2_Missense_Mutation_p.T247M|A2BP1_uc002cyy.2_Missense_Mutation_p.T247M|A2BP1_uc002cyx.2_Missense_Mutation_p.T247M|A2BP1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 227 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.T247M(1) 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TTCGTAGGCACGGTCCTGTTG 0.498000 KIAA0430 9665 broad.mit.edu 37 16 15703435 15703435 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:15703435T>C uc002ddr.2 - 20 4092 c.3899A>G c.(3898-3900)TAC>TGC p.Y1300C KIAA0430_uc002ddq.2_Missense_Mutation_p.Y1134C|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y1296C|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y1299C NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1299 peroxisome nucleotide binding|RNA binding 0 AAACCCATAGTACGCAAGTTT 0.388000 SMG1 23049 broad.mit.edu 37 16 18846365 18846365 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:18846365G>A uc002dfm.2 - 49 8542 c.8179C>T c.(8179-8181)CGC>TGC p.R2727C SMG1_uc010bwb.2_Missense_Mutation_p.R2587C|SMG1_uc010bwa.2_Missense_Mutation_p.R1458C NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2727 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGTTTCAAGCGTTCCACTTGT 0.458000 GDE1 51573 broad.mit.edu 37 16 19514884 19514884 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:19514884T>C uc002dgh.2 - 6 1068 c.904A>G c.(904-906)AAT>GAT p.N302D GDE1_uc002dgi.2_Missense_Mutation_p.N192D NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 302 Cytoplasmic (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 TCAAAGGTATTAACAGTCCAA 0.438000 OREG0023659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GPRC5B 51704 broad.mit.edu 37 16 19883731 19883731 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:19883731C>T uc002dgt.2 - 2 545 c.437G>A c.(436-438)CGC>CAC p.R146H GPRC5B_uc010vav.1_Missense_Mutation_p.R172H NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 146 Helical; Name=3; (Potential). lung(1)|breast(1)|skin(1) 3 CCTCCGCACGCGCCATGCCTG 0.667000 DNAH3 55567 broad.mit.edu 37 16 20976175 20976175 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:20976175C>T uc010vbe.1 - 53 9031 c.9031G>A c.(9031-9033)GCT>ACT p.A3011T DNAH3_uc010vbd.1_Missense_Mutation_p.A446T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3011 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACTGTAAAAGCGCCCAGGTAA 0.532000 POLR3E 55718 broad.mit.edu 37 16 22320299 22320299 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:22320299A>G uc002dkk.2 + 5 375 c.219A>G c.(217-219)AAA>AAG p.K73K POLR3E_uc002dkj.1_Silent_p.K73K|POLR3E_uc002dkm.2_Silent_p.K37K|POLR3E_uc010vbr.1_Silent_p.K73K|POLR3E_uc002dkl.2_Silent_p.K73K|POLR3E_uc010vbs.1_Silent_p.K37K|POLR3E_uc010vbt.1_Silent_p.K17K NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 73 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) GCCGCAGCAAAGGGGAGCAGA 0.622000 XPO6 23214 broad.mit.edu 37 16 28112798 28112798 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:28112798C>T uc002dpa.1 - 23 3758 c.3257G>A c.(3256-3258)CGG>CAG p.R1086Q XPO6_uc002dpb.1_Missense_Mutation_p.R1072Q|XPO6_uc010vcp.1_Missense_Mutation_p.R1085Q NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 1086 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 CTTGAAATTCCGCCCCAGCAC 0.587000 C16orf92 146378 broad.mit.edu 37 16 30035069 30035069 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:30035069C>T uc002dvs.2 + 2 173 c.152C>T c.(151-153)ACG>ATG p.T51M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.T29M NM_001109660 NP_001103130 Q96LL3 CP092_HUMAN hypothetical protein LOC146378 isoform 2 51 integral to membrane 0 AAGCGTGCCACGGCGTCAGCC 0.597000 PHKG2 5261 broad.mit.edu 37 16 30768156 30768156 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:30768156G>A uc002dzk.1 + 10 1052 c.959G>A c.(958-960)CGA>CAA p.R320Q PHKG2_uc002dzi.1_Missense_Mutation_p.R324Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R218Q NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 320 Calmodulin-binding (domain-N) (By similarity). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) GCTGCTGGACGAGTGGCCCTA 0.607000 MYLK3 91807 broad.mit.edu 37 16 46763518 46763518 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:46763518G>A uc002eei.3 - 6 1766 c.1650C>T c.(1648-1650)AGC>AGT p.S550S MYLK3_uc010vge.1_Silent_p.S209S|MYLK3_uc002eej.1_Silent_p.S209S NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 550 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGTCCTTGGCGCTCTTCACTT 0.622000 RPGRIP1L 23322 broad.mit.edu 37 16 53692344 53692344 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:53692344T>G uc002ehp.2 - 12 1447 c.1383A>C c.(1381-1383)GAA>GAC p.E461D RPGRIP1L_uc002eho.3_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E461D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E461D NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 461 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GTAGGAGAGCTTCACTCAATT 0.343000 CDH16 1014 broad.mit.edu 37 16 66946430 66946430 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:66946430C>T uc002eql.2 - 11 1409 c.1336G>A c.(1336-1338)GCC>ACC p.A446T CDH16_uc010cdy.2_Missense_Mutation_p.A446T|CDH16_uc002eqm.2_Missense_Mutation_p.A349T NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 446 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AACTCAGGGGCGTGATCATTG 0.577000 ELMO3 79767 broad.mit.edu 37 16 67234150 67234150 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:67234150G>A uc002esa.2 + 5 501 c.458G>A c.(457-459)CGC>CAC p.R153H ELMO3_uc002esb.2_Missense_Mutation_p.R136H|ELMO3_uc002esc.2_5'UTR NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 100 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CCTGAAGGGCGCCGGGAAGCC 0.607000 DUS2L 54920 broad.mit.edu 37 16 68109393 68109393 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:68109393T>C uc002evi.2 + 14 1217 c.1068T>C c.(1066-1068)GCT>GCC p.A356A DUS2L_uc002evj.2_Silent_p.A356A|DUS2L_uc010vkk.1_Silent_p.A321A|DUS2L_uc010cez.2_Silent_p.A269A NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 356 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TTAAGATGGCTGTCAAGTTTG 0.597000 PRMT7 54496 broad.mit.edu 37 16 68373281 68373281 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:68373281C>T uc002evy.1 + 8 837 c.561C>T c.(559-561)TCC>TCT p.S187S PRMT7_uc002evx.1_Silent_p.S187S|PRMT7_uc010vlg.1_Silent_p.S137S|PRMT7_uc002evz.1_Silent_p.S33S NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 187 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TGGTGGAGTCCGGGAGGATGT 0.522000 CHST4 10164 broad.mit.edu 37 16 71571181 71571181 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:71571181G>A uc002fan.2 + 2 782 c.601G>A c.(601-603)GTG>ATG p.V201M CHST4_uc002fao.2_Missense_Mutation_p.V201M NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 201 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 CCTGCATATCGTGCACCTGGT 0.602000 RFWD3 55159 broad.mit.edu 37 16 74670377 74670377 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:74670377C>T uc002fda.2 - 8 1391 c.1293G>A c.(1291-1293)CAG>CAA p.Q431Q RFWD3_uc010cgq.2_Silent_p.Q431Q NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 431 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 TGTGCTTGTGCTGGCCCTGGC 0.517000 ADAMTS18 170692 broad.mit.edu 37 16 77353960 77353960 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:77353960C>T uc002ffc.3 - 16 2737 c.2318G>A c.(2317-2319)GGC>GAC p.G773D ADAMTS18_uc010chc.1_Missense_Mutation_p.G361D|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G469D NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 773 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GCTTCGGGCGCCAGCTGGAAT 0.507000 KIAA1609 57707 broad.mit.edu 37 16 84522882 84522882 + Splice_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:84522882G>A uc002fib.2 - 4 636 c.529_splice c.e4+1 p.D177_splice KIAA1609_uc010vod.1_Splice_Site_p.D150_splice|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 protein binding ovary(2) 2 ACGCACACTTGCCTTGCAGCT 0.408000 KIAA1609 57707 broad.mit.edu 37 16 84531619 84531619 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:84531619T>C uc002fib.2 - 2 181 c.74A>G c.(73-75)GAT>GGT p.D25G KIAA1609_uc010vod.1_5'UTR|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 25 protein binding ovary(2) 2 AAACAATTGATCAATCTCTGC 0.473000 MTHFSD 64779 broad.mit.edu 37 16 86565765 86565765 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:86565765C>T uc002fjn.2 - 8 1055 c.1004G>A c.(1003-1005)CGG>CAG p.R335Q MTHFSD_uc010voo.1_Missense_Mutation_p.R315Q|MTHFSD_uc002fjo.2_Missense_Mutation_p.R172Q|MTHFSD_uc002fjm.2_Missense_Mutation_p.R334Q|MTHFSD_uc010vop.1_Missense_Mutation_p.R172Q|MTHFSD_uc010voq.1_Missense_Mutation_p.R334Q|MTHFSD_uc010vor.1_Missense_Mutation_p.R335Q NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 335 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 CCAGGTGAGCCGCAGGGGCAC 0.706000 CBFA2T3 863 broad.mit.edu 37 16 88958765 88958765 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:88958765C>T uc002fmm.1 - 4 694 c.508G>A c.(508-510)GGG>AGG p.G170R CBFA2T3_uc002fml.1_Missense_Mutation_p.G84R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G109R|CBFA2T3_uc002fmn.1_Missense_Mutation_p.G145R NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 170 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) TGCCGGGCCCCGCAGGCTGGG 0.647000 T RUNX1 AML MYO1C 4641 broad.mit.edu 37 17 1381382 1381382 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:1381382G>A uc002fsp.2 - 12 1620 c.1400C>T c.(1399-1401)GCG>GTG p.A467V MYO1C_uc002fsn.2_Missense_Mutation_p.A448V|MYO1C_uc002fso.2_Missense_Mutation_p.A432V|MYO1C_uc010vqj.1_Missense_Mutation_p.A432V|MYO1C_uc010vqk.1_Missense_Mutation_p.A443V NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 467 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGCACACACCGCGATGCCCTC 0.632000 ANKFY1 51479 broad.mit.edu 37 17 4075887 4075887 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:4075887A>G uc002fxq.1 - 22 3141 c.3103T>C c.(3103-3105)TAT>CAT p.Y1035H ANKFY1_uc002fxn.2_Missense_Mutation_p.Y1077H|ANKFY1_uc002fxo.2_Missense_Mutation_p.Y1036H|ANKFY1_uc002fxp.2_Missense_Mutation_p.Y1034H|ANKFY1_uc010ckp.2_Missense_Mutation_p.Y977H NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1035 ANK 20. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 TCCAGAGGATACCCCGGCATG 0.532000 NLRP1 22861 broad.mit.edu 37 17 5462048 5462048 + Silent SNP C C T rs139136010 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:5462048C>T uc002gci.2 - 4 2523 c.1968G>A c.(1966-1968)ACG>ACA p.T656T NLRP1_uc002gcg.1_Silent_p.T656T|NLRP1_uc002gck.2_Silent_p.T656T|NLRP1_uc002gcj.2_Silent_p.T656T|NLRP1_uc002gcl.2_Silent_p.T656T|NLRP1_uc002gch.3_Silent_p.T656T|NLRP1_uc010clh.2_Silent_p.T656T NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 656 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) ATGCTTCTAGCGTCTTTTCCA 0.448000 RCVRN 5957 broad.mit.edu 37 17 9804342 9804342 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:9804342C>T uc002gme.1 - 2 644 c.457G>A c.(457-459)GAG>AAG p.E153K NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 153 EF-hand 4. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 CAGATCTTCTCGGCTCGCTTT 0.433000 MYH2 4620 broad.mit.edu 37 17 10428368 10428368 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:10428368A>G uc010coi.2 - 34 4805 c.4677T>C c.(4675-4677)CAT>CAC p.H1559H uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1559H|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1559 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTCCCTCTTCATGTTCAAGAG 0.408000 NCOR1 9611 broad.mit.edu 37 17 15971282 15971282 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:15971282G>A uc002gpo.2 - 32 4907 c.4667C>T c.(4666-4668)GCA>GTA p.A1556V NCOR1_uc002gpn.2_Missense_Mutation_p.A1572V|NCOR1_uc002gpm.2_Missense_Mutation_p.A77V|NCOR1_uc010vwb.1_Missense_Mutation_p.A140V|NCOR1_uc010coy.2_Missense_Mutation_p.A464V|NCOR1_uc010vwc.1_Missense_Mutation_p.A367V NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1556 Interaction with ETO.|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) AACCTCGCCTGCAGTGCTGCC 0.542000 RAI1 10743 broad.mit.edu 37 17 17698048 17698048 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:17698048C>T uc002grm.2 + 3 2255 c.1786C>T c.(1786-1788)CGG>TGG p.R596W RAI1_uc002grn.1_Missense_Mutation_p.R596W NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 596 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GGACTGTCCGCGGCTGCTGCT 0.637000 MYO15A 51168 broad.mit.edu 37 17 18022386 18022386 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:18022386G>A uc010vxh.1 + 2 610 c.272G>A c.(271-273)CGC>CAC p.R91H NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 91 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) ACGCAGATGCGCATGGGCAAG 0.662000 MYO15A 51168 broad.mit.edu 37 17 18054840 18054840 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:18054840A>G uc010vxh.1 + 39 8124 c.7786A>G c.(7786-7788)AGG>GGG p.R2596G MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2596 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGAGGCCCTCAGGTCAGCACT 0.632000 SMCR7 125170 broad.mit.edu 37 17 18167652 18167652 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:18167652C>T uc002gst.2 + 4 1150 c.939C>T c.(937-939)GAC>GAT p.D313D SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.D324D NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 313 integral to membrane protein binding 0 all_neural(463;0.228) TCGATGCTGACGACCGCCTCC 0.682000 KSR1 8844 broad.mit.edu 37 17 25909964 25909964 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:25909964G>A uc010crg.2 + 5 847 c.402G>A c.(400-402)CCG>CCA p.P134P KSR1_uc002gzj.1_RNA NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 269 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCATCACCCCGCCCACCACAC 0.697000 ERAL1 26284 broad.mit.edu 37 17 27182060 27182060 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:27182060C>T uc002hcy.1 + 1 18 c.8C>T c.(7-9)GCC>GTC p.A3V ERAL1_uc002hcx.1_Missense_Mutation_p.A3V|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank NM_005702 NP_005693 O75616 ERAL1_HUMAN Era-like 1 3 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding skin(1) 1 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GTAATGGCTGCCCCCAGCTGG 0.612000 ACACA 31 broad.mit.edu 37 17 35641758 35641758 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:35641758C>T uc002hnm.2 - 4 532 c.341G>A c.(340-342)GGA>GAA p.G114E ACACA_uc002hnk.2_Missense_Mutation_p.G36E|ACACA_uc002hnl.2_Missense_Mutation_p.G56E|ACACA_uc002hnn.2_Missense_Mutation_p.G114E|ACACA_uc002hno.2_Missense_Mutation_p.G151E|ACACA_uc010cuz.2_Missense_Mutation_p.G114E|ACACA_uc002hnq.2_Missense_Mutation_p.G36E|ACACA_uc002hnp.1_RNA NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 114 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CACTTTATTTCCCCCAAAGCG 0.398000 WIPF2 147179 broad.mit.edu 37 17 38412743 38412743 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:38412743C>T uc002hug.1 + 2 272 c.32C>T c.(31-33)CCT>CTT p.P11L WIPF2_uc010cwv.1_Missense_Mutation_p.P11L|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_Intron|WIPF2_uc002hui.1_Missense_Mutation_p.P11L|WIPF2_uc010cwx.1_Missense_Mutation_p.P11L|WIPF2_uc010cwy.1_Missense_Mutation_p.P11L NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 11 Poly-Pro. cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CCACCCCCACCTGGTCCTCCT 0.483000 HNSCC(43;0.11) FKBP10 60681 broad.mit.edu 37 17 39977935 39977935 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:39977935C>T uc002hxv.2 + 9 1754 c.1429C>T c.(1429-1431)CTG>TTG p.L477L FKBP10_uc002hxw.1_Silent_p.L241L NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 477 PPIase FKBP-type 4. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) TGCTGTGCTGCTGTTTGAGGT 0.632000 NBR1 4077 broad.mit.edu 37 17 41345516 41345516 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:41345516C>T uc010czd.2 + 12 1525 c.1385C>T c.(1384-1386)TCT>TTT p.S462F NBR1_uc010diz.2_Missense_Mutation_p.S462F|NBR1_uc010whu.1_Missense_Mutation_p.S462F|NBR1_uc010whv.1_Missense_Mutation_p.S462F|NBR1_uc010whw.1_Missense_Mutation_p.S441F|NBR1_uc010whx.1_Missense_Mutation_p.S271F NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 462 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TGGCGTCTTTCTCACAAAGGC 0.522000 ATXN7L3 56970 broad.mit.edu 37 17 42274991 42274991 + Silent SNP C C T rs142032853 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:42274991C>T uc002iga.2 - 2 250 c.159G>A c.(157-159)ACG>ACA p.T53T ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.T53T NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 53 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) TATCAGGGTCCGTGTCGTCCA 0.532000 TBX21 30009 broad.mit.edu 37 17 45822626 45822626 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:45822626G>A uc002ilv.1 + 6 1713 c.1502G>A c.(1501-1503)CGC>CAC p.R501H NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 501 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 AAGAGGAGGCGCGTGTCCCCC 0.572000 SGCA 6442 broad.mit.edu 37 17 48246578 48246578 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:48246578C>T uc002iqi.2 + 6 746 c.710C>T c.(709-711)GCA>GTA p.A237V SGCA_uc010wmh.1_Missense_Mutation_p.A135V|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 237 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 GACACCTTGGCACCCCACTTC 0.642000 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DYNLL2 140735 broad.mit.edu 37 17 56166533 56166533 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:56166533C>T uc010wnn.1 + 3 437 c.163C>T c.(163-165)CAT>TAT p.H55Y NM_080677 NP_542408 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 55 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity 0 CCCTACCTGGCATTGTATCGT 0.413000 MAP3K3 4215 broad.mit.edu 37 17 61769160 61769160 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:61769160G>A uc002jbg.2 + 14 1731 c.1412G>A c.(1411-1413)CGG>CAG p.R471Q MAP3K3_uc002jbe.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbf.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbh.2_Missense_Mutation_p.R498Q|MAP3K3_uc010wpo.1_Missense_Mutation_p.R386Q|MAP3K3_uc010wpp.1_Missense_Mutation_p.R467Q NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 471 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 AAGTACACGCGGCAGATCCTG 0.448000 SCN4A 6329 broad.mit.edu 37 17 62019107 62019107 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:62019107C>T uc002jds.1 - 24 4612 c.4535G>A c.(4534-4536)GGC>GAC p.G1512D NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1512 IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ATCATCGATGCCCGACTCCTT 0.557000 SCN4A 6329 broad.mit.edu 37 17 62038590 62038590 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:62038590G>A uc002jds.1 - 11 1885 c.1808C>T c.(1807-1809)ACG>ATG p.T603M NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 603 II. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AAAGTGCTCCGTCATGGGGTA 0.592000 RGS9 8787 broad.mit.edu 37 17 63221121 63221121 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:63221121C>T uc002jfe.2 + 18 1519 c.1409C>T c.(1408-1410)CCG>CTG p.P470L RGS9_uc010dem.2_Missense_Mutation_p.P467L|RGS9_uc002jfd.2_Missense_Mutation_p.P467L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P241L NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 470 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 TCTCTACAGCCGGGCCAGCAC 0.647000 CACNG1 786 broad.mit.edu 37 17 65052208 65052208 + Missense_Mutation SNP C C T rs143055819 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:65052208C>T uc002jfu.2 + 4 561 c.490C>T c.(490-492)CGC>TGC p.R164C NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 164 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) GTCGGTGAAGCGCATGATTGA 0.617000 ITGB4 3691 broad.mit.edu 37 17 73728294 73728294 + Silent SNP C C T rs149030156 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:73728294C>T uc002jpg.2 + 12 1615 c.1428C>T c.(1426-1428)TGC>TGT p.C476C ITGB4_uc002jph.2_Silent_p.C476C|ITGB4_uc010dgo.2_Silent_p.C476C|ITGB4_uc002jpi.3_Silent_p.C476C|ITGB4_uc010dgp.1_Silent_p.C476C|ITGB4_uc002jpj.2_Silent_p.C476C|ITGB4_uc010wsh.1_Silent_p.C31C NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 476 I.|Extracellular (Potential).|Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACTTCGTGTGCGGACAGTGTG 0.647000 ITGB4 3691 broad.mit.edu 37 17 73753610 73753610 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:73753610A>G uc002jpg.2 + 40 5630 c.5443A>G c.(5443-5445)ATG>GTG p.M1815V ITGB4_uc002jph.2_Missense_Mutation_p.M1745V|ITGB4_uc002jpi.3_Missense_Mutation_p.M1745V|ITGB4_uc002jpj.2_Missense_Mutation_p.M1798V|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1815 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGCACCCACATGGACCAACA 0.662000 EXOC7 23265 broad.mit.edu 37 17 74087253 74087253 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:74087253T>C uc002jqs.2 - 7 967 c.872A>G c.(871-873)AAG>AGG p.K291R EXOC7_uc010dgv.1_Missense_Mutation_p.K238R|EXOC7_uc002jqq.2_Missense_Mutation_p.K291R|EXOC7_uc010wsw.1_Missense_Mutation_p.K291R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.K250R NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 291 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) AGAGCCCCCCTTTTTCCCATC 0.542000 JMJD6 23210 broad.mit.edu 37 17 74714828 74714828 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:74714828G>A uc002jso.2 - 6 1519 c.1195C>T c.(1195-1197)CGC>TGC p.R399C JMJD6_uc002jsn.1_Missense_Mutation_p.R399C|JMJD6_uc010dgz.2_Silent_p.S352S NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 isoform 2 399 mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding skin(2)|ovary(1) 3 GAGGAGCTGCGCTCTTTGCTG 0.642000 CBX8 57332 broad.mit.edu 37 17 77769309 77769309 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:77769309C>G uc002jxd.1 - 5 388 c.295G>C c.(295-297)GCC>CCC p.A99P NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 99 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ATGCCCCTGGCTGAGTCACTT 0.652000 CCDC40 55036 broad.mit.edu 37 17 78039288 78039288 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:78039288G>A uc010dht.2 + 10 1472 c.1445G>A c.(1444-1446)TGC>TAC p.C482Y CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.C265Y NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 482 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CTGCAGGCCTGCACCGAGATC 0.607000 CARD14 79092 broad.mit.edu 37 17 78182049 78182049 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:78182049G>T uc002jxw.1 + 21 3115 c.2920G>T c.(2920-2922)GGC>TGC p.G974C CARD14_uc002jxt.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 974 Guanylate kinase-like. 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) GGCTCCTGACGGCTGGAGCGA 0.677000 AZI1 22994 broad.mit.edu 37 17 79173252 79173252 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:79173252C>T uc002jzp.1 - 10 1321 c.1121G>A c.(1120-1122)CGG>CAG p.R374Q AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R374Q|AZI1_uc002jzo.1_Missense_Mutation_p.R374Q|AZI1_uc010wum.1_Missense_Mutation_p.R374Q NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 374 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGCAGGCTGCCGCATTCCTGG 0.657000 C17orf70 80233 broad.mit.edu 37 17 79511074 79511074 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:79511074C>T uc002kaq.2 - 7 2438 c.2383G>A c.(2383-2385)GCC>ACC p.A795T C17orf70_uc002kao.1_Missense_Mutation_p.A444T|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A644T NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 795 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CAAATGTCGGCCAGAGAGGAG 0.632000 PYCR1 5831 broad.mit.edu 37 17 79893246 79893246 + Silent SNP G G A rs113491328 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:79893246G>A uc002kcr.1 - 3 563 c.285C>T c.(283-285)TGC>TGT p.C95C PYCR1_uc002kcq.1_Silent_p.C95C|PYCR1_uc002kcp.2_Silent_p.C95C|PYCR1_uc002kcs.1_Silent_p.C95C|PYCR1_uc010wvd.1_Silent_p.C122C|PYCR1_uc002kct.1_Silent_p.C95C|PYCR1_uc002kcu.1_Silent_p.C95C|PYCR1_uc010wve.1_Silent_p.C48C NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 95 NADP. cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) CGCCGGCCGCGCAGGACACCA 0.587000 FASN 2194 broad.mit.edu 37 17 80048771 80048771 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:80048771A>G uc002kdu.2 - 10 1784 c.1667T>C c.(1666-1668)CTG>CCG p.L556P FASN_uc002kdw.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 556 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GATGGCAGTCAGGCTCACAAA 0.607000 ANKRD12 23253 broad.mit.edu 37 18 9280973 9280973 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:9280973C>T uc002knv.2 + 13 6295 c.6038C>T c.(6037-6039)GCG>GTG p.A2013V ANKRD12_uc002knw.2_Missense_Mutation_p.A1990V|ANKRD12_uc002knx.2_Missense_Mutation_p.A1990V NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 2013 nucleus ovary(2)|central_nervous_system(1) 3 CATGAAGCTGCGGCTTTAAAT 0.363000 DSC3 1825 broad.mit.edu 37 18 28586948 28586948 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:28586948C>T uc002kwj.3 - 12 1968 c.1813G>A c.(1813-1815)GGA>AGA p.G605R DSC3_uc002kwi.3_Missense_Mutation_p.G605R NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 605 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) AATGGAGCTCCATGGACAGGT 0.348000 MCART2 147407 broad.mit.edu 37 18 29340010 29340010 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:29340010C>T uc002kxa.2 - 1 834 c.615G>A c.(613-615)ACG>ACA p.T205T NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN mitochondrial carrier triple repeat 2 205 transport integral to membrane|mitochondrial inner membrane skin(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.0539) CACTGTGAGTCGTTGCGGTAG 0.458000 RNF138 51444 broad.mit.edu 37 18 29693753 29693753 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:29693753T>C uc002kxg.2 + 4 761 c.322T>C c.(322-324)TAT>CAT p.Y108H RNF138_uc002kxh.2_Intron NM_016271 NP_057355 Q8WVD3 RN138_HUMAN ring finger protein 138 isoform 1 108 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding 0 TTGTAAGAAGTATCAGGATGA 0.289000 ASXL3 80816 broad.mit.edu 37 18 31319791 31319791 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:31319791C>T uc010dmg.1 + 11 2478 c.2423C>T c.(2422-2424)CCC>CTC p.P808L ASXL3_uc002kxq.2_Missense_Mutation_p.P515L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 808 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCTAATACTCCCGAACCCATC 0.473000 TCEB3B 51224 broad.mit.edu 37 18 44560469 44560469 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:44560469G>A uc002lcr.1 - 1 1520 c.1167C>T c.(1165-1167)TAC>TAT p.Y389Y KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 389 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCAACTGATCGTAGGTGAGGT 0.488000 MYO5B 4645 broad.mit.edu 37 18 47383217 47383217 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:47383217C>T uc002leb.2 - 30 4276 c.3988G>A c.(3988-3990)GGC>AGC p.G1330S MYO5B_uc002lea.2_Intron NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1330 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TAGGCCAAGCCGAGTTCTCCA 0.478000 CDH7 1005 broad.mit.edu 37 18 63530035 63530035 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:63530035G>A uc002ljz.2 + 11 2071 c.1746G>A c.(1744-1746)GTG>GTA p.V582V CDH7_uc002lka.2_Silent_p.V582V|CDH7_uc002lkb.2_Silent_p.V582V NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 582 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CCATCCGCGTGTGTGACTGTG 0.542000 ZNF407 55628 broad.mit.edu 37 18 72343856 72343856 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:72343856G>A uc002llw.2 + 1 938 c.881G>A c.(880-882)CGT>CAT p.R294H ZNF407_uc010xfc.1_Missense_Mutation_p.R294H|ZNF407_uc010dqu.1_Missense_Mutation_p.R294H|ZNF407_uc002llu.2_Missense_Mutation_p.R293H NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AAAAAATCACGTACAATGGCA 0.373000 NFATC1 4772 broad.mit.edu 37 18 77208862 77208862 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:77208862C>T uc010xfg.1 + 4 1920 c.1467C>T c.(1465-1467)CAC>CAT p.H489H NFATC1_uc002lnc.1_Silent_p.H489H|NFATC1_uc010xff.1_Silent_p.H489H|NFATC1_uc002lnd.2_Silent_p.H489H|NFATC1_uc002lne.2_Silent_p.H17H|NFATC1_uc010xfh.1_Silent_p.H489H|NFATC1_uc010xfi.1_Silent_p.H476H|NFATC1_uc010xfj.1_Silent_p.H17H|NFATC1_uc002lnf.2_Silent_p.H476H|NFATC1_uc002lng.2_Silent_p.H476H|NFATC1_uc010xfk.1_Silent_p.H476H NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 489 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TGCGCCCGCACGCCTTCTACC 0.607000 ELANE 1991 broad.mit.edu 37 19 853026 853026 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:853026C>T uc002lqb.2 + 2 256 c.218C>T c.(217-219)GCG>GTG p.A73V NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 73 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CACTGCGTGGCGAATGTGTGA 0.731000 Kostmann_syndrome ARID3A 1820 broad.mit.edu 37 19 971946 971946 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:971946G>A uc002lql.2 + 9 1953 c.1663G>A c.(1663-1665)GGC>AGC p.G555S NM_005224 NP_005215 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT- like) 555 Gly-rich.|Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) cggcggcggcggcggcagcag 0.547000 ARID3A 1820 broad.mit.edu 37 19 971952 971952 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:971952A>G uc002lql.2 + 9 1959 c.1669A>G c.(1669-1671)AGC>GGC p.S557G NM_005224 NP_005215 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT- like) 557 Gly-rich.|Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) cggcggcggcagcagcagcAA 0.532000 MEX3D 399664 broad.mit.edu 37 19 1556717 1556717 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:1556717C>T uc010dsn.2 - 2 801 c.801G>A c.(799-801)CCG>CCA p.P267P NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 267 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGGTTGGGCGGGCCCTGGG 0.711000 MBD3 53615 broad.mit.edu 37 19 1581217 1581217 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:1581217G>A uc002ltl.1 - 5 573 c.551C>T c.(550-552)GCC>GTC p.A184V MBD3_uc002ltj.2_Missense_Mutation_p.A184V|MBD3_uc002ltk.2_Missense_Mutation_p.A152V NM_003926 NP_003917 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 184 transcription, DNA-dependent NuRD complex DNA binding|protein binding ovary(1)|pancreas(1)|skin(1) 3 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) AGTGTGCAGGGCGCTGGCGAT 0.667000 SLC39A3 29985 broad.mit.edu 37 19 2733205 2733205 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:2733205C>T uc002lwg.2 - 3 743 c.489G>A c.(487-489)TCG>TCA p.S163S SLC39A3_uc010xgy.1_Silent_p.S163S NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 163 Cytoplasmic (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGGCGCGCGAGAGGCCCT 0.731000 S1PR4 8698 broad.mit.edu 37 19 3179829 3179829 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:3179829G>A uc002lxg.2 + 1 1064 c.1039G>A c.(1039-1041)GGA>AGA p.G347R NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 347 Cytoplasmic (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 GGCTCACTCCGGAGCTTCCAC 0.692000 PIP5K1C 23396 broad.mit.edu 37 19 3633441 3633441 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:3633441G>A uc002lyj.1 - 17 2055 c.1998C>T c.(1996-1998)AGC>AGT p.S666S PIP5K1C_uc010xhq.1_Intron NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 666 Mediates interaction with TLN2. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TTACTGTGTCGCTCTCGCCGT 0.692000 MPND 84954 broad.mit.edu 37 19 4355005 4355005 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:4355005C>T uc002mae.2 + 7 973 c.906C>T c.(904-906)GAC>GAT p.D302D MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Intron|MPND_uc002maf.2_Silent_p.D302D|MPND_uc002mah.2_Silent_p.D190D|MPND_uc002mai.2_Silent_p.D190D NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 302 MPN. peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGCTGGGACGTCAACAGCC 0.662000 RFX2 5990 broad.mit.edu 37 19 6040096 6040096 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:6040096G>A uc002meb.2 - 5 686 c.417C>T c.(415-417)GTC>GTT p.V139V RFX2_uc002mec.2_Silent_p.V139V|RFX2_uc010xiy.1_Silent_p.V94V NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 GGCTCCCCCCGACATCCATGG 0.687000 FBN3 84467 broad.mit.edu 37 19 8201136 8201136 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:8201136C>T uc002mjf.2 - 11 1424 c.1403G>A c.(1402-1404)GGC>GAC p.G468D NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 468 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GTGGTAGGTGCCGGGGATGTT 0.642000 PRAM1 84106 broad.mit.edu 37 19 8563446 8563446 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:8563446G>A uc002mkd.2 - 2 1266 c.1246C>T c.(1246-1248)CCC>TCC p.P416S PRAM1_uc002mkc.2_Missense_Mutation_p.P416S NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 464 Pro-rich. lipid binding|protein binding 0 CTCCAGCGGGGTGTCCCAGCC 0.721000 MYO1F 4542 broad.mit.edu 37 19 8601234 8601234 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:8601234C>T uc002mkg.2 - 19 2059 c.1945G>A c.(1945-1947)GAA>AAA p.E649K NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 649 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CCCTGGCGTTCGTCCCCACGC 0.652000 MUC16 94025 broad.mit.edu 37 19 9061788 9061788 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:9061788G>T uc002mkp.2 - 3 25862 c.25658C>A c.(25657-25659)CCC>CAC p.P8553H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8555 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCCACAGAGGGAAGGCTCGG 0.507000 ZNF317 57693 broad.mit.edu 37 19 9267982 9267982 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:9267982C>T uc002mku.2 + 4 476 c.201C>T c.(199-201)ACC>ACT p.T67T ZNF317_uc010xkm.1_Nonsense_Mutation_p.R109*|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Silent_p.T67T|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGACTTTACCGAGAAGGAGT 0.493000 S1PR5 53637 broad.mit.edu 37 19 10624718 10624718 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:10624718C>T uc002mot.1 - 2 1027 c.970G>A c.(970-972)GGA>AGA p.G324R S1PR5_uc002mou.1_Missense_Mutation_p.G324R NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 324 Cytoplasmic (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 GAGTGGCGTCCGCAGCAGACC 0.701000 PRKCSH 5589 broad.mit.edu 37 19 11558289 11558289 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:11558289T>C uc002mrt.2 + 11 1221 c.885T>C c.(883-885)CCT>CCC p.P295P PRKCSH_uc002mru.2_Silent_p.P295P|PRKCSH_uc010xlz.1_Silent_p.P295P|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Silent_p.P295P|PRKCSH_uc010dyb.2_Silent_p.P295P NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 295 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 CTTCTGCCCCTGACTTGACGG 0.507000 ZNF709 163051 broad.mit.edu 37 19 12576151 12576151 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:12576151A>G uc002mtv.3 - 4 746 c.585T>C c.(583-585)CCT>CCC p.P195P ZNF709_uc002mtw.3_Silent_p.P163P|ZNF709_uc002mtx.3_Silent_p.P195P NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACATTCATAAGGTTTCTCTC 0.403000 RNASEH2A 10535 broad.mit.edu 37 19 12918303 12918303 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:12918303G>A uc002mvg.1 + 4 454 c.394G>A c.(394-396)GGC>AGC p.G132S RNASEH2A_uc002mvf.1_Missense_Mutation_p.G50S NM_006397 NP_006388 O75792 RNH2A_HUMAN ribonuclease H2, large subunit 132 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(2)|central_nervous_system(1) 3 ATTGGACCAGGGCGTGAACGT 0.418000 LPHN1 22859 broad.mit.edu 37 19 14281586 14281586 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:14281586T>C uc010xnn.1 - 4 598 c.302A>G c.(301-303)CAG>CGG p.Q101R LPHN1_uc010xno.1_Missense_Mutation_p.Q101R|uc002myf.2_RNA|uc010dzk.1_5'Flank NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 101 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CACCACGCACTGGGTGCGGTT 0.597000 EPS15L1 58513 broad.mit.edu 37 19 16536014 16536014 + Silent SNP G G A rs141071663 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:16536014G>A uc002ndz.1 - 9 678 c.672C>T c.(670-672)CCC>CCT p.P224P EPS15L1_uc002ndx.2_Silent_p.P224P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P114P|EPS15L1_uc010xpf.1_Silent_p.P127P|EPS15L1_uc002nea.1_Silent_p.P224P|EPS15L1_uc010eah.1_Silent_p.P224P|EPS15L1_uc002neb.1_Silent_p.P70P|EPS15L1_uc002nec.1_Silent_p.P224P NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 224 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CAGGCAGGACGGGGACGGCGC 0.682000 MAST3 23031 broad.mit.edu 37 19 18245776 18245776 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:18245776C>T uc002nhz.3 + 16 1767 c.1767C>T c.(1765-1767)TTC>TTT p.F589F NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 589 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 AGGAACTCTTCGGTCAGGTGG 0.627000 ELL 8178 broad.mit.edu 37 19 18557573 18557573 + Missense_Mutation SNP G G A rs142055049 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:18557573G>A uc002njh.2 - 9 1589 c.1517C>T c.(1516-1518)ACG>ATG p.T506M ELL_uc010ebq.2_Missense_Mutation_p.T449M|ELL_uc002njg.2_Missense_Mutation_p.T373M NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 506 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) GTAGTCAGGCGTCTCCGACGT 0.587000 T MLL AL ATP13A1 57130 broad.mit.edu 37 19 19758333 19758333 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:19758333C>T uc002nnh.3 - 21 2826 c.2798G>A c.(2797-2799)CGC>CAC p.R933H ATP13A1_uc002nne.2_Missense_Mutation_p.R73H|ATP13A1_uc002nnf.3_Missense_Mutation_p.R301H|ATP13A1_uc002nng.2_Missense_Mutation_p.R815H NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 933 Cytoplasmic (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(3)|large_intestine(2)|central_nervous_system(1) 6 CTGGCTCAGGCGGTCCTGCAG 0.642000 ATP13A1 57130 broad.mit.edu 37 19 19766196 19766196 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:19766196A>G uc002nnh.3 - 11 1491 c.1463T>C c.(1462-1464)GTC>GCC p.V488A ATP13A1_uc002nnf.3_5'UTR|ATP13A1_uc002nng.2_Missense_Mutation_p.V370A NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 488 Cytoplasmic (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(3)|large_intestine(2)|central_nervous_system(1) 6 AGGAGGCACGACCGAGGTGAG 0.632000 ZNF429 353088 broad.mit.edu 37 19 21720332 21720332 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:21720332T>C uc002nqd.1 + 4 1614 c.1477T>C c.(1477-1479)TCC>CCC p.S493P ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 493 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTTTAAGCAGTCCTCAAACCT 0.398000 ZNF91 7644 broad.mit.edu 37 19 23557561 23557561 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:23557561C>T uc002nre.2 - 2 149 c.36G>A c.(34-36)CTG>CTA p.L12L ZNF91_uc010xrj.1_Silent_p.L12L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 12 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAAATGTCAACAGTCCCTGAA 0.403000 ZNF675 171392 broad.mit.edu 37 19 23836865 23836865 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:23836865G>A uc002nri.2 - 4 1052 c.870C>T c.(868-870)GGC>GGT p.G290G NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 290 C2H2-type 6. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TAAAGGCTTTGCCACATTCTT 0.378000 TSHZ3 57616 broad.mit.edu 37 19 31769253 31769253 + Missense_Mutation SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:31769253G>C uc002nsy.3 - 2 1511 c.1446C>G c.(1444-1446)GAC>GAG p.D482E NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 482 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TAGGTTTCTCGTCAGTGACCG 0.478000 ATP4A 495 broad.mit.edu 37 19 36046611 36046611 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:36046611C>T uc002oal.1 - 13 2002 c.1973G>A c.(1972-1974)CGC>CAC p.R658H ATP4A_uc010eee.1_5'UTR NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 658 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 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) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CACACGGAGGCGGGCAGCGAT 0.632000 ZNF568 374900 broad.mit.edu 37 19 37441358 37441358 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:37441358G>A uc002ofc.2 + 7 1818 c.1303G>A c.(1303-1305)GTA>ATA p.V435I ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V359I|ZNF568_uc010efe.2_Missense_Mutation_p.V359I|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 435 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATCCCTAACCGTACATATGCG 0.383000 ZNF793 390927 broad.mit.edu 37 19 38027860 38027860 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:38027860C>T uc010efm.2 + 8 742 c.300C>T c.(298-300)GGC>GGT p.G100G ZNF793_uc010xts.1_Silent_p.G100G|ZNF793_uc010efo.2_Silent_p.G100G NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN zinc finger protein 793 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGGCCAGGCGCAGCCATAA 0.403000 DLL3 10683 broad.mit.edu 37 19 39995901 39995901 + Silent SNP G G A rs148016836 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:39995901G>A uc002olx.2 + 6 961 c.903G>A c.(901-903)CCG>CCA p.P301P DLL3_uc010egq.2_Silent_p.P301P|DLL3_uc002olw.2_Silent_p.P301P NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 301 EGF-like 2.|Extracellular (Potential). Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCACCTGCCCGCGTGGGTTCT 0.597000 FCGBP 8857 broad.mit.edu 37 19 40398365 40398365 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:40398365G>A uc002omp.3 - 14 6610 c.6602C>T c.(6601-6603)GCG>GTG p.A2201V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2201 VWFD 5. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCGTACGCCGCCGGCACGCG 0.692000 LTBP4 8425 broad.mit.edu 37 19 41105349 41105349 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:41105349C>T uc002ooh.1 + 3 228 c.228C>T c.(226-228)TGC>TGT p.C76C LTBP4_uc002oog.1_Silent_p.C39C|LTBP4_uc002ooi.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 76 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCGAAGCTGCCAGCCCAAAA 0.607000 CYP2A6 1548 broad.mit.edu 37 19 41351354 41351354 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:41351354C>T uc002opl.3 - 7 1027 c.1006G>A c.(1006-1008)GGC>AGC p.G336S CYP2A6_uc010ehe.1_Missense_Mutation_p.G132S NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 336 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CGGTTCTTGCCGATCACTCTG 0.537000 CCDC97 90324 broad.mit.edu 37 19 41822685 41822685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:41822685G>A uc002oqg.2 + 2 565 c.443G>A c.(442-444)CGC>CAC p.R148H CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 148 0 GCCCGGCCCCGCACCCTGCGT 0.677000 PRR19 284338 broad.mit.edu 37 19 42813866 42813866 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:42813866G>A uc002oti.2 + 2 508 c.130G>A c.(130-132)GAT>AAT p.D44N PRR19_uc002oth.1_Missense_Mutation_p.D44N|PRR19_uc002otj.2_Missense_Mutation_p.D44N NM_199285 NP_954979 A6NJB7 PRR19_HUMAN proline rich 19 44 0 Prostate(69;0.00682) AGCCCACCACGATCCTCCTGT 0.632000 MEGF8 1954 broad.mit.edu 37 19 42856601 42856601 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:42856601A>G uc002otl.3 + 18 3777 c.3142A>G c.(3142-3144)AAC>GAC p.N1048D MEGF8_uc002otm.3_Missense_Mutation_p.N656D NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1115 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CTCACACTGCAACCGCACGTG 0.672000 ZNF221 7638 broad.mit.edu 37 19 44470960 44470960 + Nonsense_Mutation SNP C C T rs148293806 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:44470960C>T uc002oxx.2 + 6 1634 c.1306C>T c.(1306-1308)CGA>TGA p.R436* ZNF221_uc010ejb.1_Nonsense_Mutation_p.R436*|ZNF221_uc010xws.1_Nonsense_Mutation_p.R436* NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 436 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) TACAAATTCACGACGATCTTC 0.418000 BCAM 4059 broad.mit.edu 37 19 45317965 45317965 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:45317965C>T uc002ozu.2 + 8 1070 c.1026C>T c.(1024-1026)TAC>TAT p.Y342Y BCAM_uc002ozt.1_Silent_p.Y342Y NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 342 Extracellular (Potential).|Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGGAGGATTACGACGCGGCAG 0.642000 ZNF296 162979 broad.mit.edu 37 19 45575805 45575805 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:45575805C>T uc002pao.2 - 3 539 c.482G>A c.(481-483)CGC>CAC p.R161H NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 161 C2H2-type 1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTGCCACAGCGCAGGCAGCT 0.592000 PPP1R13L 10848 broad.mit.edu 37 19 45895174 45895174 + Silent SNP C C T rs148594569 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:45895174C>T uc002pbn.2 - 8 1856 c.1779G>A c.(1777-1779)CCG>CCA p.P593P PPP1R13L_uc002pbm.2_Silent_p.P172P|PPP1R13L_uc002pbo.2_Silent_p.P593P NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 593 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGCTCTGGGACGGGGCCGGGG 0.637000 CCDC8 83987 broad.mit.edu 37 19 46914615 46914615 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:46914615G>A uc002pep.2 - 1 2305 c.1453C>T c.(1453-1455)CGC>TGC p.R485C NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 485 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CACGAAAAGCGTCCAGGGGTC 0.622000 SLC8A2 6543 broad.mit.edu 37 19 47951139 47951139 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:47951139C>T uc002pgx.2 - 4 1968 c.1690G>A c.(1690-1692)GGC>AGC p.G564S SLC8A2_uc010xyq.1_Missense_Mutation_p.G320S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G27S|SLC8A2_uc010ele.2_Missense_Mutation_p.G564S NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 564 Calx-beta 2.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CGCGCCGTGCCGTCCACCGTG 0.736000 GRIN2D 2906 broad.mit.edu 37 19 48908240 48908240 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:48908240G>A uc002pjc.3 + 3 803 c.715G>A c.(715-717)GTC>ATC p.V239I NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 239 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCTCCGCAGTGTCAGCGCGCA 0.701000 NUCB1 4924 broad.mit.edu 37 19 49404120 49404120 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:49404120G>A uc002plb.3 + 2 139 c.67G>A c.(67-69)GCC>ACC p.A23T NUCB1_uc002pla.2_Missense_Mutation_p.A23T|NUCB1_uc002plc.2_Missense_Mutation_p.A23T|TULP2_uc002pkz.2_5'Flank NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 23 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) cctgctTCGCGCCGTGCTGGC 0.582000 PRR12 57479 broad.mit.edu 37 19 50099948 50099948 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:50099948G>A uc002poo.3 + 4 2356 c.2356G>A c.(2356-2358)GGG>AGG p.G786R NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 481 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TCTGGAGGCCGGGGGCCCTGA 0.706000 PRR12 57479 broad.mit.edu 37 19 50128792 50128792 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:50128792G>A uc002poo.3 + 14 6039 c.6039G>A c.(6037-6039)CCG>CCA p.P2013P NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 1192 DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGAACCAGCCGTGGCTGGAAC 0.687000 MYH14 79784 broad.mit.edu 37 19 50764826 50764826 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:50764826G>A uc002prr.1 + 19 2443 c.2396G>A c.(2395-2397)CGA>CAA p.R799Q MYH14_uc010enu.1_Missense_Mutation_p.R840Q|MYH14_uc002prq.1_Missense_Mutation_p.R807Q NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 799 Myosin head-like. 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) GAAGAGGAGCGAGACCTGAAG 0.642000 LRRC4B 94030 broad.mit.edu 37 19 51020885 51020885 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:51020885G>A uc002pss.2 - 3 2222 c.2085C>T c.(2083-2085)CAC>CAT p.H695H ASPDH_uc002psr.3_5'Flank NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 695 Cytoplasmic (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCAGAGGTTCGTGGATGGAGT 0.592000 KLK5 25818 broad.mit.edu 37 19 51453318 51453318 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:51453318G>T uc002pue.2 - 4 346 c.128C>A c.(127-129)CCC>CAC p.P43H KLK5_uc002puf.2_Missense_Mutation_p.P43H|KLK5_uc002pug.2_Missense_Mutation_p.P43H NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 43 Missing (in Ref. 3; AAG33358). epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GCTCCCAGAGGGCACGGTGTT 0.617000 FPR3 2359 broad.mit.edu 37 19 52327577 52327577 + Silent SNP C C T rs147264707 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:52327577C>T uc002pxt.1 + 2 760 c.576C>T c.(574-576)AAC>AAT p.N192N NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 192 Extracellular (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 AGAGGTTGAACGTGTTCATTA 0.443000 ZNF615 284370 broad.mit.edu 37 19 52497070 52497070 + Missense_Mutation SNP C C T rs142913953 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:52497070C>T uc002pye.1 - 6 1551 c.1259G>A c.(1258-1260)CGA>CAA p.R420Q ZNF615_uc002pyf.1_Missense_Mutation_p.R431Q|ZNF615_uc002pyg.1_Missense_Mutation_p.R312Q|ZNF615_uc002pyh.1_Missense_Mutation_p.R431Q|ZNF615_uc010epi.1_Missense_Mutation_p.R427Q|ZNF615_uc010ydg.1_Missense_Mutation_p.R425Q NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 420 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AGTATGAGTTCGTTGATGTAC 0.413000 ZNF432 9668 broad.mit.edu 37 19 52537843 52537843 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:52537843A>G uc002pyk.2 - 5 1407 c.1089T>C c.(1087-1089)CAT>CAC p.H363H NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 363 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GATTTCGTTGATGTATGATGA 0.413000 ZNF331 55422 broad.mit.edu 37 19 54080407 54080407 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:54080407G>T uc002qbx.1 + 7 2027 c.593G>T c.(592-594)TGG>TTG p.W198L ZNF331_uc002qby.1_Missense_Mutation_p.W198L|ZNF331_uc002qbz.1_Missense_Mutation_p.W198L|ZNF331_uc002qca.1_Missense_Mutation_p.W198L|ZNF331_uc010eqr.1_Missense_Mutation_p.W198L|ZNF331_uc002qcb.1_Missense_Mutation_p.W198L|ZNF331_uc002qcc.1_Missense_Mutation_p.W198L|ZNF331_uc002qcd.1_Missense_Mutation_p.W198L NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 198 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) GCTTTTCGATGGGGCTCAAGC 0.458000 T ? follicular thyroid adenoma NLRP9 338321 broad.mit.edu 37 19 56228095 56228095 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:56228095T>C uc002qly.2 - 5 2357 c.2329A>G c.(2329-2331)ATG>GTG p.M777V NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 777 LRR 2. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CCAACTTACATCAGCCTCTCC 0.542000 ZNF835 90485 broad.mit.edu 37 19 57176318 57176318 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:57176318G>A uc010ygo.1 - 2 315 c.315C>T c.(313-315)TGC>TGT p.C105C ZNF835_uc010ygn.1_Silent_p.C83C NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CAGGCGCGCTGCACCTCCGGG 0.642000 PEG3 5178 broad.mit.edu 37 19 57325147 57325147 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:57325147C>T uc002qnu.2 - 7 5014 c.4663G>A c.(4663-4665)GGT>AGT p.G1555S ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1526S|PEG3_uc002qnv.2_Missense_Mutation_p.G1555S|PEG3_uc002qnw.2_Missense_Mutation_p.G1431S|PEG3_uc002qnx.2_Missense_Mutation_p.G1429S|PEG3_uc010etr.2_Missense_Mutation_p.G1555S|PEG3AS_uc010ets.1_RNA NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1555 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGATTGGCACCACCTGTGCTG 0.522000 TPO 7173 broad.mit.edu 37 2 1491735 1491735 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:1491735G>A uc002qww.2 + 10 1831 c.1740G>A c.(1738-1740)CTG>CTA p.L580L TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.L580L|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.L407L|TPO_uc010yip.1_Silent_p.L580L|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 580 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCATCAACCTGCAGAGGGGCC 0.592000 TTC15 51112 broad.mit.edu 37 2 3469465 3469465 + Missense_Mutation SNP A A G rs149394434 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:3469465A>G uc002qxm.1 + 9 1981 c.1775A>G c.(1774-1776)CAG>CGG p.Q592R TTC15_uc002qxn.1_Missense_Mutation_p.Q592R|TTC15_uc010ewm.1_Missense_Mutation_p.Q598R NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 592 TPR 2. binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) ATTTCCCTGCAGGTACCTGTG 0.488000 PUM2 23369 broad.mit.edu 37 2 20463159 20463159 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:20463159G>A uc002rds.1 - 13 2043 c.2020C>T c.(2020-2022)CGA>TGA p.R674* PUM2_uc002rdq.1_Nonsense_Mutation_p.R51*|PUM2_uc002rdt.1_Nonsense_Mutation_p.R674*|PUM2_uc002rdr.2_Nonsense_Mutation_p.R534*|PUM2_uc010yjy.1_Nonsense_Mutation_p.R595*|PUM2_uc002rdu.1_Nonsense_Mutation_p.R674*|PUM2_uc010yjz.1_Nonsense_Mutation_p.R613* NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 674 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGCACTTCGATATTTTGCT 0.468000 PUM2 23369 broad.mit.edu 37 2 20494174 20494174 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:20494174T>C uc002rds.1 - 8 1138 c.1115A>G c.(1114-1116)CAG>CGG p.Q372R PUM2_uc002rdt.1_Missense_Mutation_p.Q372R|PUM2_uc002rdr.2_Missense_Mutation_p.Q311R|PUM2_uc010yjy.1_Missense_Mutation_p.Q372R|PUM2_uc002rdu.1_Missense_Mutation_p.Q372R|PUM2_uc010yjz.1_Missense_Mutation_p.Q311R NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 372 Ala-rich.|Gln-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGCTTGCTGACTGGCTGT 0.478000 C2orf39 92749 broad.mit.edu 37 2 26667583 26667583 + Splice_Site SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:26667583G>T uc002rhg.2 + 10 1238 c.1164_splice c.e10-1 p.R388_splice C2orf39_uc010eym.1_Splice_Site NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTTCACAGGCATTTTGCT 0.488000 PREB 10113 broad.mit.edu 37 2 27356049 27356049 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:27356049C>T uc002rix.1 - 3 735 c.482G>A c.(481-483)TGC>TAC p.C161Y PREB_uc002riy.1_Missense_Mutation_p.C89Y|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.C161Y NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 161 WD 1.|Cytoplasmic (Potential). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGTTGAAGCACACAACTTT 0.542000 WDR43 23160 broad.mit.edu 37 2 29136984 29136984 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:29136984T>C uc002rmo.2 + 5 688 c.656T>C c.(655-657)ATC>ACC p.I219T NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 219 WD 5. nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TTCACTACCATCAGACCTCCT 0.423000 EHD3 30845 broad.mit.edu 37 2 31483572 31483572 + Silent SNP C C T rs147844646 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:31483572C>T uc002rnu.2 + 4 1307 c.699C>T c.(697-699)TAC>TAT p.Y233Y EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 233 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) TGCGGGTGTACGGGGCCCTCA 0.577000 LTBP1 4052 broad.mit.edu 37 2 33589400 33589400 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:33589400G>A uc002ros.2 + 30 4520 c.4520G>A c.(4519-4521)TGT>TAT p.C1507Y LTBP1_uc002rot.2_Missense_Mutation_p.C1181Y|LTBP1_uc002rou.2_Missense_Mutation_p.C1180Y|LTBP1_uc002rov.2_Missense_Mutation_p.C1127Y|LTBP1_uc010ymz.1_Missense_Mutation_p.C1138Y|LTBP1_uc010yna.1_Missense_Mutation_p.C1085Y|LTBP1_uc010ynb.1_Missense_Mutation_p.C404Y NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1506 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAAAAAAGATGTATACGACCG 0.418000 PRKCE 5581 broad.mit.edu 37 2 46234741 46234741 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:46234741C>T uc002rut.2 + 9 1401 c.1204C>T c.(1204-1206)CGC>TGC p.R402C NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 402 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CCAGGCCAAGCGCCTGGGCCT 0.582000 SPTBN1 6711 broad.mit.edu 37 2 54856759 54856759 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:54856759C>T uc002rxu.2 + 14 2737 c.2488C>T c.(2488-2490)CGG>TGG p.R830W SPTBN1_uc002rxv.1_Missense_Mutation_p.R830W|SPTBN1_uc002rxx.2_Missense_Mutation_p.R817W NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 830 Spectrin 6. 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) CATCGAGGAGCGGTATAAGGA 0.642000 TET3 200424 broad.mit.edu 37 2 74326560 74326560 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:74326560T>C uc002skb.3 + 8 3020 c.3020T>C c.(3019-3021)CTC>CCC p.L1007P NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1007 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ATCCAGGTGCTCACCGCCTTC 0.627000 REG3G 130120 broad.mit.edu 37 2 79255050 79255050 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:79255050A>G uc002snw.2 + 5 536 c.451A>G c.(451-453)AGA>GGA p.R151G REG3G_uc002snx.2_Missense_Mutation_p.R151G|REG3G_uc010ffu.2_Missense_Mutation_p.R105G NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 151 C-type lectin. acute-phase response extracellular region sugar binding 0 GAGCCTGTCAAGAAGCACAGG 0.478000 SLC9A4 389015 broad.mit.edu 37 2 103124628 103124628 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:103124628G>A uc002tbz.3 + 5 1746 c.1289G>A c.(1288-1290)CGA>CAA p.R430Q NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 430 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 AGTGGTGTTCGAGGAGCTGGA 0.408000 NCK2 8440 broad.mit.edu 37 2 106498349 106498349 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:106498349G>A uc002tdg.2 + 4 1234 c.792G>A c.(790-792)GCG>GCA p.A264A NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A264A NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 264 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 TGCACCCTGCGCACGCCCCAC 0.667000 ST6GAL2 84620 broad.mit.edu 37 2 107423211 107423211 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:107423211G>A uc002tdq.2 - 6 1632 c.1513C>T c.(1513-1515)CGC>TGC p.R505C ST6GAL2_uc002tdr.2_Missense_Mutation_p.R505C NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 505 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TTGCCCTTGCGATGCAAATCC 0.577000 FOXD4L1 200350 broad.mit.edu 37 2 114257147 114257147 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:114257147C>T uc002tjw.3 + 1 487 c.314C>T c.(313-315)CCG>CTG p.P105L NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 105 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GCCCGGCAGCCGGCAAAGCCC 0.657000 NCKAP5 344148 broad.mit.edu 37 2 133540153 133540153 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:133540153G>A uc002ttp.2 - 14 4605 c.4231C>T c.(4231-4233)CGC>TGC p.R1411C NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1411 protein binding 0 CAACTGCGGCGGTCACTGCCT 0.597000 TMEM163 81615 broad.mit.edu 37 2 135215710 135215710 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:135215710G>T uc002ttx.2 - 7 768 c.702C>A c.(700-702)TTC>TTA p.F234L TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 234 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) GAAGAATGGAGAAGCCCATCA 0.542000 THSD7B 80731 broad.mit.edu 37 2 138000026 138000026 + Splice_Site SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:138000026G>T uc002tva.1 + 9 2058 c.2058_splice c.e9-1 p.R686_splice THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Splice_Site_p.R576_splice NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CACATTGACAGATGTCCAGAT 0.368000 NEB 4703 broad.mit.edu 37 2 152581448 152581448 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:152581448C>A uc010fnx.2 - 7 621 c.430G>T c.(430-432)GCT>TCT p.A144S NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 144 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATAGTCTTAGCAACATCACCA 0.378000 ACVR1C 130399 broad.mit.edu 37 2 158390496 158390496 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:158390496G>A uc002tzk.3 - 9 1659 c.1416C>T c.(1414-1416)CGC>CGT p.R472R ACVR1C_uc002tzl.3_Silent_p.R392R|ACVR1C_uc010fof.2_Silent_p.R315R|ACVR1C_uc010foe.2_Silent_p.R422R NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 472 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GAGCAGTTAGGCGGGCCGCTC 0.388000 CSRNP3 80034 broad.mit.edu 37 2 166535568 166535568 + Missense_Mutation SNP G G A rs139133187 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:166535568G>A uc002udf.2 + 7 1439 c.1063G>A c.(1063-1065)GGA>AGA p.G355R CSRNP3_uc002udg.2_Missense_Mutation_p.G355R NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 355 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CTTTTGCAGCGGAGTCACAGA 0.433000 PMS1 5378 broad.mit.edu 37 2 190718672 190718672 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:190718672G>A uc002urh.3 + 8 1359 c.830G>A c.(829-831)CGA>CAA p.R277Q PMS1_uc010zga.1_Missense_Mutation_p.R238Q|PMS1_uc010zgb.1_Missense_Mutation_p.R216Q|PMS1_uc002urk.3_Missense_Mutation_p.R238Q|PMS1_uc002uri.3_Missense_Mutation_p.R277Q|PMS1_uc010zgc.1_Missense_Mutation_p.R101Q|PMS1_uc010zgd.1_Missense_Mutation_p.R101Q|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.R238Q|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.R62Q|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 277 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TAGTTAATCCGACATCATTAC 0.274000 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR ANKRD44 91526 broad.mit.edu 37 2 197986076 197986076 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:197986076C>A uc002uuc.2 - 8 1053 c.886G>T c.(886-888)GGG>TGG p.G296W ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.G271W|ANKRD44_uc002uub.2_Missense_Mutation_p.G296W|ANKRD44_uc010zgw.1_Missense_Mutation_p.G224W NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 296 ANK 9. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) ACATCTGCCCCGTTGTTTACT 0.428000 KCTD18 130535 broad.mit.edu 37 2 201362476 201362476 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:201362476C>A uc002uvs.2 - 5 1178 c.661G>T c.(661-663)GGT>TGT p.G221C KCTD18_uc002uvt.2_Missense_Mutation_p.G221C|KCTD18_uc002uvu.1_Missense_Mutation_p.G221C NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 221 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 TGCACTGTACCTTTTCCTTCC 0.343000 CYP20A1 57404 broad.mit.edu 37 2 204150338 204150338 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:204150338G>A uc002uzv.3 + 9 1476 c.854G>A c.(853-855)TGT>TAT p.C285Y CYP20A1_uc002uzx.3_Missense_Mutation_p.C183Y|CYP20A1_uc010zif.1_Missense_Mutation_p.C293Y|CYP20A1_uc002uzy.3_Missense_Mutation_p.C183Y|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.C15Y NM_177538 NP_803882 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, 285 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 GACCTAGTGTGTACCTGGGCA 0.328000 PARD3B 117583 broad.mit.edu 37 2 205969158 205969158 + Silent SNP G G A rs115490230 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:205969158G>A uc002var.1 + 5 720 c.513G>A c.(511-513)ACG>ACA p.T171T PARD3B_uc010fub.1_Silent_p.T171T|PARD3B_uc002vao.1_Silent_p.T171T|PARD3B_uc002vap.1_Silent_p.T171T|PARD3B_uc002vaq.1_Silent_p.T171T NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 171 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGGATTCCACGCAGAACTTGG 0.368000 PARD3B 117583 broad.mit.edu 37 2 206364664 206364664 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:206364664G>A uc002var.1 + 21 3296 c.3089G>A c.(3088-3090)CGG>CAG p.R1030Q PARD3B_uc002vao.1_Missense_Mutation_p.R929Q|PARD3B_uc002vap.1_Missense_Mutation_p.R968Q|PARD3B_uc002vaq.1_Missense_Mutation_p.R961Q NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1030 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAGAAGTTGCGGAAAGAGTAT 0.463000 FN1 2335 broad.mit.edu 37 2 216232726 216232726 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:216232726G>A uc002vfa.2 - 42 7144 c.6878C>T c.(6877-6879)ACG>ATG p.T2293M FN1_uc002vfb.2_Missense_Mutation_p.T2081M|FN1_uc002vfc.2_Missense_Mutation_p.T2056M|FN1_uc002vfd.2_Missense_Mutation_p.T2237M|FN1_uc002vfe.2_Missense_Mutation_p.T2171M|FN1_uc002vff.2_Missense_Mutation_p.T2146M|FN1_uc002vfg.2_Missense_Mutation_p.T2112M|FN1_uc002vfh.2_Missense_Mutation_p.T1992M|FN1_uc002vfi.2_Missense_Mutation_p.T2262M|FN1_uc002vfj.2_Missense_Mutation_p.T2083M|FN1_uc002vez.2_Missense_Mutation_p.T456M|FN1_uc010zjp.1_Missense_Mutation_p.T830M|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2202 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGAGTCATCCGTAGGTTGGTT 0.418000 FN1 2335 broad.mit.edu 37 2 216240005 216240005 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:216240005T>G uc002vfa.2 - 38 6355 c.6089A>C c.(6088-6090)AAG>ACG p.K2030T FN1_uc002vfb.2_Missense_Mutation_p.K1849T|FN1_uc002vfc.2_Missense_Mutation_p.K1849T|FN1_uc002vfd.2_Missense_Mutation_p.K2030T|FN1_uc002vfe.2_Missense_Mutation_p.K1939T|FN1_uc002vff.2_Missense_Mutation_p.K1939T|FN1_uc002vfg.2_Missense_Mutation_p.K1849T|FN1_uc002vfh.2_Missense_Mutation_p.K1849T|FN1_uc002vfi.2_Missense_Mutation_p.K2030T|FN1_uc002vfj.2_Missense_Mutation_p.K1940T|FN1_uc002vez.2_Missense_Mutation_p.K224T|FN1_uc010zjp.1_Missense_Mutation_p.K567T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.K392T|FN1_uc010fvd.1_Missense_Mutation_p.K121T NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1939 Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGACCCAGGCTTCTCATACTT 0.557000 FAM124B 79843 broad.mit.edu 37 2 225266089 225266089 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:225266089A>C uc002vnx.2 - 1 623 c.397T>G c.(397-399)TGT>GGT p.C133G FAM124B_uc002vnw.2_Missense_Mutation_p.C133G NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 133 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TCGGAGCCACAGTGCACCTGC 0.547000 NMUR1 10316 broad.mit.edu 37 2 232393149 232393149 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:232393149G>A uc002vry.3 - 2 693 c.583C>T c.(583-585)CCC>TCC p.P195S NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 195 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CTGGTGTTGGGCAGGGAGCAG 0.697000 ALPP 250 broad.mit.edu 37 2 233246214 233246214 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:233246214C>T uc002vsq.2 + 11 1482 c.1317C>T c.(1315-1317)CCC>CCT p.P439P ALPP_uc002vsr.2_RNA NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 439 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CAGGGAGCCCCGAGTATCGGC 0.672000 AGAP1 116987 broad.mit.edu 37 2 236877175 236877175 + Missense_Mutation SNP C C T rs35347272 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:236877175C>T uc002vvs.2 + 13 2148 c.1553C>T c.(1552-1554)CCG>CTG p.P518L AGAP1_uc002vvt.2_Missense_Mutation_p.P465L NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 518 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AAGCTCGACCCGCCCCCCTCC 0.577000 COL6A3 1293 broad.mit.edu 37 2 238283516 238283516 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:238283516C>T uc002vwl.2 - 8 3503 c.3218G>A c.(3217-3219)AGC>AAC p.S1073N COL6A3_uc002vwo.2_Missense_Mutation_p.S867N|COL6A3_uc010znj.1_Missense_Mutation_p.S466N|COL6A3_uc002vwq.2_Missense_Mutation_p.S867N|COL6A3_uc002vwr.2_Missense_Mutation_p.S666N NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1073 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTCCGGTCGCTGTACTGCAC 0.622000 COL6A3 1293 broad.mit.edu 37 2 238296516 238296516 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:238296516G>A uc002vwl.2 - 4 1306 c.1021C>T c.(1021-1023)CGC>TGC p.R341C COL6A3_uc002vwo.2_Missense_Mutation_p.R135C|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.R135C|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R341C NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 341 VWFA 2.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCCTCCACGCGGCTGCCCCCT 0.617000 HDAC4 9759 broad.mit.edu 37 2 240002800 240002800 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:240002800G>A uc002vyk.3 - 22 3518 c.2726C>T c.(2725-2727)GCG>GTG p.A909V HDAC4_uc010fyy.2_Missense_Mutation_p.A866V NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 909 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCTGAAGGCCGCCAAGTACTC 0.597000 TGM3 7053 broad.mit.edu 37 20 2298001 2298001 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:2298001C>T uc002wfx.3 + 7 950 c.853C>T c.(853-855)CGG>TGG p.R285W NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 285 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) TGCAGCGCTGCGGTCTTTGGG 0.572000 PTPRA 5786 broad.mit.edu 37 20 3007386 3007386 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:3007386A>G uc010zqd.1 + 17 2018 c.1701A>G c.(1699-1701)CCA>CCG p.P567P PTPRA_uc002whj.2_Silent_p.P556P|PTPRA_uc002whk.2_Silent_p.P547P|PTPRA_uc002whl.2_Silent_p.P547P|PTPRA_uc002whm.2_Silent_p.P323P|PTPRA_uc002whn.2_Silent_p.P547P|PTPRA_uc002who.2_Silent_p.P219P NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 556 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 GAAACCTTCCAGCCAACATGA 0.473000 SIGLEC1 6614 broad.mit.edu 37 20 3675129 3675129 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:3675129G>A uc002wja.2 - 12 2995 c.2995C>T c.(2995-2997)CGA>TGA p.R999* SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Nonsense_Mutation_p.R999* NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 999 Ig-like C2-type 10.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 AGGCCCAGTCGTCCAGGGCCT 0.672000 SPTLC3 55304 broad.mit.edu 37 20 13071817 13071817 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:13071817G>A uc002wod.1 + 5 983 c.694G>A c.(694-696)GCA>ACA p.A232T NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 232 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) GATGGGATTCGCAACTAACTC 0.413000 PROCR 10544 broad.mit.edu 37 20 33764529 33764529 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:33764529G>A uc002xbt.2 + 4 814 c.630G>A c.(628-630)TCG>TCA p.S210S EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.S247S NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 210 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CCTACACTTCGCTGGTCCTGG 0.542000 DLGAP4 22839 broad.mit.edu 37 20 35060934 35060934 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:35060934G>A uc002xff.2 + 3 1249 c.814G>A c.(814-816)GCA>ACA p.A272T DLGAP4_uc010zvp.1_Missense_Mutation_p.A272T NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 272 Poly-Pro. cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCCCCGCCCGCACCCCCAGC 0.627000 SAMHD1 25939 broad.mit.edu 37 20 35521451 35521451 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:35521451G>T uc002xgh.1 - 16 1895 c.1765C>A c.(1765-1767)CCA>ACA p.P589T C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 589 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) GTTATGAGTGGGGCTATAACA 0.423000 SLC32A1 140679 broad.mit.edu 37 20 37357202 37357202 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:37357202G>A uc002xjc.2 + 2 1761 c.1498G>A c.(1498-1500)GGC>AGC p.G500S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 500 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTCGTCATCGGCGGCATCTG 0.647000 PLCG1 5335 broad.mit.edu 37 20 39801287 39801287 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:39801287T>C uc002xjp.1 + 26 3251 c.3130_splice c.e26+2 p.D1044_splice PLCG1_uc002xjo.1_Splice_Site_p.D1044_splice|PLCG1_uc010zwe.1_Splice_Site_p.D670_splice NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) AGACCCCTGGTGAGGAAGTCC 0.567000 PTPRT 11122 broad.mit.edu 37 20 41419958 41419958 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:41419958G>A uc002xkg.2 - 3 547 c.363C>T c.(361-363)AAC>AAT p.N121N PTPRT_uc010ggj.2_Silent_p.N121N NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 121 Extracellular (Potential).|MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCACGTAGACGTTCAAGGCCC 0.592000 MYBL2 4605 broad.mit.edu 37 20 42331253 42331253 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:42331253C>T uc002xlb.1 + 8 1290 c.1075C>T c.(1075-1077)CGC>TGC p.R359C MYBL2_uc010zwj.1_Missense_Mutation_p.R335C|MYBL2_uc002xla.1_Missense_Mutation_p.R359C NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 359 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCTGCCACCCCGCCAGCCTTC 0.607000 MMP9 4318 broad.mit.edu 37 20 44641175 44641175 + Silent SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:44641175G>C uc002xqz.2 + 8 1303 c.1284G>C c.(1282-1284)GGG>GGC p.G428G NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 428 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TCACTGAGGGGCCCCCCTTGC 0.627000 ZNFX1 57169 broad.mit.edu 37 20 47864574 47864574 + Missense_Mutation SNP G G A rs150988771 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:47864574G>A uc002xui.2 - 14 5234 c.4987C>T c.(4987-4989)CGG>TGG p.R1663W NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1663 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCTTAAGCCGTTCCTGGCTG 0.502000 B4GALT5 9334 broad.mit.edu 37 20 48252915 48252915 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:48252915G>A uc002xuu.3 - 9 1295 c.1101C>T c.(1099-1101)TAC>TAT p.Y367Y NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 367 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) ACAAGGCGTCGTATGTGATGT 0.493000 SALL4 57167 broad.mit.edu 37 20 50408073 50408073 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:50408073G>A uc002xwh.3 - 2 1050 c.949C>T c.(949-951)CCG>TCG p.P317S SALL4_uc010gii.2_Missense_Mutation_p.P317S|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 317 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTCCCATCCGGCTTCAGAGTG 0.632000 LAMA5 3911 broad.mit.edu 37 20 60886294 60886294 + Nonsense_Mutation SNP G G A rs150238261 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:60886294G>A uc002ycq.2 - 73 10079 c.10012C>T c.(10012-10014)CGA>TGA p.R3338* NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3338 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGGAGTCTCGGGTGGTCCTG 0.682000 SON 6651 broad.mit.edu 37 21 34925673 34925673 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:34925673C>T uc002yse.1 + 3 4185 c.4136C>T c.(4135-4137)TCG>TTG p.S1379L SON_uc002ysb.1_Missense_Mutation_p.S1379L|SON_uc002ysc.2_Missense_Mutation_p.S1379L|SON_uc002ysd.2_Missense_Mutation_p.S370L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S370L NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1379 4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CTGGAGTCTTCGACTGTAACT 0.577000 DOPEY2 9980 broad.mit.edu 37 21 37581040 37581040 + Silent SNP G G A rs143348611 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:37581040G>A uc002yvg.2 + 5 598 c.519G>A c.(517-519)TCG>TCA p.S173S DOPEY2_uc011aeb.1_Silent_p.S173S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 173 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TGAGACTGTCGCTGGTGGTTG 0.612000 DOPEY2 9980 broad.mit.edu 37 21 37605196 37605196 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:37605196C>A uc002yvg.2 + 15 2524 c.2445C>A c.(2443-2445)TCC>TCA p.S815S DOPEY2_uc011aeb.1_Silent_p.S815S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 815 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TGGCCATTTCCACTCTGCTGG 0.483000 HLCS 3141 broad.mit.edu 37 21 38309376 38309376 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:38309376C>T uc010gnb.2 - 4 1570 c.369G>A c.(367-369)GCG>GCA p.A123A HLCS_uc002yvs.2_Silent_p.A123A|HLCS_uc010gnc.1_Silent_p.A270A NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 123 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TCTCGGCAGACGCAAACTTGA 0.527000 KRTAP10-10 353333 broad.mit.edu 37 21 46057624 46057624 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:46057624C>A uc002zfq.2 + 1 352 c.290C>A c.(289-291)CCT>CAT p.P97H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 97 15 X 5 AA repeats of C-C-X(3).|5. keratin filament 0 tgctgtgtgcctgtctgctgt 0.328000 SUMO3 6612 broad.mit.edu 37 21 46226885 46226885 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:46226885A>G uc002zfz.1 - 4 454 c.293T>C c.(292-294)CTG>CCG p.L98P SUMO3_uc011afi.1_Missense_Mutation_p.L136P|SUMO3_uc002zga.1_Missense_Mutation_p.W115R NM_006936 NP_008867 P55854 SUMO3_HUMAN small ubiquitin-like modifier protein 3 98 protein sumoylation cytoplasm|kinetochore protein binding 0 Colorectal(79;0.058) GTGCCCTGCCAGGCTGCTCTC 0.617000 FTCD 10841 broad.mit.edu 37 21 47571482 47571482 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:47571482C>A uc002zif.2 - 5 670 c.626G>T c.(625-627)GGG>GTG p.G209V FTCD_uc002zig.2_Missense_Mutation_p.G209V|FTCD_uc002zih.2_Missense_Mutation_p.G209V|FTCD_uc010gqf.2_Missense_Mutation_p.G209V|FTCD_uc010gqg.1_Missense_Mutation_p.G78V NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 209 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGGTCCTTCCCGCGGCCCTG 0.652000 DIP2A 23181 broad.mit.edu 37 21 47952045 47952045 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:47952045G>A uc002zjo.2 + 10 1383 c.1200G>A c.(1198-1200)GCG>GCA p.A400A DIP2A_uc011afy.1_Silent_p.A336A|DIP2A_uc011afz.1_Silent_p.A396A|DIP2A_uc002zjl.2_Silent_p.A400A|DIP2A_uc002zjm.2_Silent_p.A400A|DIP2A_uc010gql.2_Silent_p.A357A|DIP2A_uc002zjn.2_Silent_p.A400A|DIP2A_uc002zjp.1_Silent_p.A145A NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 400 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGTAGGTGGCGCTCGTGTTTC 0.373000 IL17RA 23765 broad.mit.edu 37 22 17589282 17589282 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:17589282C>T uc002zly.2 + 13 1306 c.1173C>T c.(1171-1173)TAC>TAT p.Y391Y IL17RA_uc010gqt.2_Silent_p.Y339Y NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 391 Cytoplasmic (Potential).|SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACCCCCTCTACGTGGACGTGG 0.627000 CECR1 51816 broad.mit.edu 37 22 17662900 17662900 + Missense_Mutation SNP C C G rs142726959 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:17662900C>G uc002zmk.1 - 8 1464 c.1252G>C c.(1252-1254)GTG>CTG p.V418L CECR1_uc010gqu.1_Missense_Mutation_p.V418L|CECR1_uc011agi.1_Missense_Mutation_p.V376L|CECR1_uc002zmj.1_Missense_Mutation_p.V177L NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 418 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AAGTCAGACACCAGTTTCAGC 0.527000 CLTCL1 8218 broad.mit.edu 37 22 19175080 19175080 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:19175080T>C uc002zpb.2 - 30 4670 c.4595A>G c.(4594-4596)CAT>CGT p.H1532R CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.H1511R|CLTCL1_uc011agt.1_Missense_Mutation_p.H323R|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1532 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) CTTGTAGAGATGATCCTTCTT 0.557000 T ? ALCL ZDHHC8 29801 broad.mit.edu 37 22 20131091 20131091 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:20131091G>A uc002zrq.2 + 10 2044 c.1938G>A c.(1936-1938)CTG>CTA p.L646L ZDHHC8_uc002zrr.1_Silent_p.L646L|ZDHHC8_uc010gsa.2_Silent_p.L452L NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 646 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CCTCCTCCCTGCAGGCTGATC 0.736000 GNAZ 2781 broad.mit.edu 37 22 23438292 23438292 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:23438292C>T uc002zwu.1 + 2 947 c.410C>T c.(409-411)GCA>GTA p.A137V RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 137 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GACCCAGGGGCACAGGCCTGC 0.662000 AP1B1 162 broad.mit.edu 37 22 29747232 29747232 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:29747232G>A uc003afj.2 - 9 1267 c.1083C>T c.(1081-1083)TAC>TAT p.Y361Y AP1B1_uc003afi.2_Silent_p.Y361Y|AP1B1_uc003afk.2_Silent_p.Y361Y|AP1B1_uc003afl.2_Silent_p.Y361Y|AP1B1_uc011ako.1_5'Flank NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 361 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CTTCTGTTGCGTACTCTTTCA 0.562000 RNF215 200312 broad.mit.edu 37 22 30776328 30776328 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:30776328G>A uc003ahp.2 - 6 807 c.807C>T c.(805-807)CTC>CTT p.L269L RNF215_uc011akw.1_Silent_p.L174L NM_001017981 NP_001017981 Q9Y6U7 RN215_HUMAN ring finger protein 215 269 Helical; (Potential). integral to membrane zinc ion binding central_nervous_system(1) 1 CCTGGACCACGAGGCCTGTGC 0.701000 SEC14L4 284904 broad.mit.edu 37 22 30891933 30891933 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:30891933G>A uc003aid.2 - 3 256 c.156C>T c.(154-156)TCC>TCT p.S52S SEC14L4_uc011akz.1_Silent_p.S52S|SEC14L4_uc003aie.2_Missense_Mutation_p.P21L|SEC14L4_uc003aif.2_5'UTR NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 52 integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) GCATGTCTTCGGATTTCTGCA 0.498000 SMTN 6525 broad.mit.edu 37 22 31491333 31491333 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:31491333G>A uc003ajl.1 + 12 1895 c.1677G>A c.(1675-1677)GCG>GCA p.A559A SMTN_uc003ajk.1_Silent_p.A559A|SMTN_uc003ajm.1_Silent_p.A559A|SMTN_uc011ale.1_Silent_p.A644A|SMTN_uc011alf.1_Silent_p.A615A|SMTN_uc003ajn.1_Silent_p.A582A|SMTN_uc011alg.1_Silent_p.A15A|SMTN_uc003ajo.1_Silent_p.A158A|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Silent_p.A15A NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 559 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 CAGTGGAAGCGGCCAATGGGG 0.582000 MYH9 4627 broad.mit.edu 37 22 36698705 36698705 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:36698705T>C uc003apg.2 - 20 2639 c.2408A>G c.(2407-2409)CAG>CGG p.Q803R MYH9_uc003aph.1_Missense_Mutation_p.Q667R NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 803 IQ. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 AAGCTGCTGCTGCCGCTTGGC 0.597000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated GGA1 26088 broad.mit.edu 37 22 38021822 38021822 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:38021822T>C uc003atc.2 + 11 1324 c.959T>C c.(958-960)CTG>CCG p.L320P GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.L320P|GGA1_uc003atf.2_Missense_Mutation_p.L247P NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 320 Unstructured hinge. 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) TCGGCCCTGCTGGATCTCTCA 0.667000 PICK1 9463 broad.mit.edu 37 22 38470380 38470380 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:38470380C>T uc003auq.2 + 12 1291 c.901C>T c.(901-903)CGC>TGC p.R301C PICK1_uc003aur.2_Missense_Mutation_p.R301C|PICK1_uc003aus.2_Missense_Mutation_p.R301C|PICK1_uc003aut.2_Missense_Mutation_p.R301C NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 301 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) CCTGCGCTGCCGCCAGGAGGC 0.687000 OREG0026555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DNAL4 10126 broad.mit.edu 37 22 39175613 39175613 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:39175613G>A uc003awj.2 - 4 387 c.159C>T c.(157-159)GCC>GCT p.A53A SUN2_uc010gxr.1_Intron NM_005740 NP_005731 O96015 DNAL4_HUMAN dynein light chain 4, axonemal 53 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity 0 Melanoma(58;0.04) TCATCTTGGCGGCGCTCTGGA 0.587000 POLDIP3 84271 broad.mit.edu 37 22 43010846 43010846 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:43010846C>T uc003bcu.2 - 1 117 c.18G>A c.(16-18)CTG>CTA p.L6L POLDIP3_uc003bcv.2_Silent_p.L6L|POLDIP3_uc011apq.1_Silent_p.L6L|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Silent_p.L6L NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 6 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 TGAGTTCGTCCAGGGAGATGT 0.657000 SCUBE1 80274 broad.mit.edu 37 22 43735179 43735179 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:43735179G>A uc003bdt.1 - 2 239 c.151C>T c.(151-153)CAG>TAG p.Q51* SCUBE1_uc003bdu.1_Nonsense_Mutation_p.Q51* NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 51 EGF-like 1; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GGCGTGTTCTGACAGATGGCA 0.597000 CELSR1 9620 broad.mit.edu 37 22 46860057 46860057 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:46860057C>T uc003bhw.1 - 2 3730 c.3730G>A c.(3730-3732)GTC>ATC p.V1244I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1244 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACGTTGAAGACGAAGACGTCG 0.642000 TBC1D22A 25771 broad.mit.edu 37 22 47274558 47274558 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:47274558G>A uc003bib.2 + 5 782 c.647G>A c.(646-648)CGG>CAG p.R216Q TBC1D22A_uc010haf.2_Missense_Mutation_p.R186Q|TBC1D22A_uc003bic.2_Missense_Mutation_p.R157Q|TBC1D22A_uc003bie.2_Missense_Mutation_p.R138Q|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R169Q NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 216 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GAGGAATTACGGAGGTTGAGC 0.488000 TUBGCP6 85378 broad.mit.edu 37 22 50658779 50658779 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:50658779C>T uc003bkb.1 - 16 4521 c.4009G>A c.(4009-4011)GGG>AGG p.G1337R TUBGCP6_uc003bka.1_Missense_Mutation_p.G424R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1329R|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1337 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTCCCCTCCCCGCAGCCCGAG 0.652000 SBF1 6305 broad.mit.edu 37 22 50901738 50901738 + Missense_Mutation SNP C C T rs146850293 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:50901738C>T uc003blh.2 - 16 2068 c.1873G>A c.(1873-1875)GTC>ATC p.V625I SBF1_uc011arx.1_Missense_Mutation_p.V289I|SBF1_uc003bli.2_Missense_Mutation_p.V626I NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 625 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) ATCATACGGACGACAAAGTCA 0.627000 CPNE9 151835 broad.mit.edu 37 3 9767682 9767682 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:9767682A>G uc003bsd.2 + 17 1462 c.1291A>G c.(1291-1293)ATC>GTC p.I431V NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 431 VWFA. ovary(2) 2 Medulloblastoma(99;0.227) TCTGCTCATCATCACTGATGG 0.428000 NUP210 23225 broad.mit.edu 37 3 13461671 13461671 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:13461671G>A uc003bxv.1 - 1 139 c.56C>T c.(55-57)GCG>GTG p.A19V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 19 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGAGGGGCCCGCCGCCAACAG 0.473000 SLC6A6 6533 broad.mit.edu 37 3 14489115 14489115 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:14489115T>C uc010heg.2 + 12 681 c.390T>C c.(388-390)ATT>ATC p.I130I SLC6A6_uc003byp.2_Silent_p.I130I|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.I130I|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 130 Helical; Name=3; (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 CCGTTGTAATTGTGTCCCTCC 0.542000 PDCD6IP 10015 broad.mit.edu 37 3 33907950 33907950 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:33907950C>T uc003cfx.2 + 18 2695 c.2540C>T c.(2539-2541)CCG>CTG p.P847L PDCD6IP_uc003cfy.2_Missense_Mutation_p.P852L|PDCD6IP_uc011axw.1_Missense_Mutation_p.P628L NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 847 Pro-rich.|Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 GCTCCATACCCGGGACCCCAG 0.522000 DCLK3 85443 broad.mit.edu 37 3 36763063 36763063 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:36763063A>G uc003cgi.2 - 3 2031 c.1540T>C c.(1540-1542)TGT>CGT p.C514R NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 514 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 GGGGTCCCACACACAGTAAAT 0.418000 TRANK1 9881 broad.mit.edu 37 3 36872969 36872969 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:36872969C>T uc003cgj.2 - 12 6625 c.6323G>A c.(6322-6324)CGA>CAA p.R2108Q NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2658 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GACGTGGTCTCGGTCTTCTAA 0.532000 HHATL 57467 broad.mit.edu 37 3 42735292 42735292 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:42735292A>G uc003clw.2 - 11 1212 c.1065T>C c.(1063-1065)ATT>ATC p.I355I HHATL_uc003clx.2_Silent_p.I355I NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 355 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GCTCCCCACCAATGTGGTTAT 0.557000 PTH1R 5745 broad.mit.edu 37 3 46943283 46943283 + Missense_Mutation SNP G G A rs148778122 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:46943283G>A uc003cqm.2 + 13 1347 c.1144G>A c.(1144-1146)GTC>ATC p.V382I PTH1R_uc003cqn.2_Missense_Mutation_p.V382I NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 382 Helical; Name=5; (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 CATCAATATCGTCCGGGTGCT 0.667000 Ollier_disease_/_Maffuci_syndrome ARIH2 10425 broad.mit.edu 37 3 49004695 49004695 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:49004695C>T uc003cvb.2 + 6 837 c.525C>T c.(523-525)GAC>GAT p.D175D ARIH2_uc003cvc.2_Silent_p.D175D|ARIH2_uc003cvf.2_Silent_p.D93D|ARIH2_uc010hkl.2_Silent_p.D175D NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 175 RING-type 1; atypical. developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCGTCAAGGACGGCGTGGGCG 0.488000 DAG1 1605 broad.mit.edu 37 3 49548245 49548245 + Missense_Mutation SNP T T G rs149218670 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:49548245T>G uc003cxc.3 + 2 696 c.278T>G c.(277-279)ATC>AGC p.I93S NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 93 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AGTGGAGATATCATCAAGGTG 0.448000 CDHR4 389118 broad.mit.edu 37 3 49836474 49836474 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:49836474T>C uc010hkz.2 - 3 365 c.356A>G c.(355-357)CAG>CGG p.Q119R CDHR4_uc003cxp.2_Missense_Mutation_p.Q119R|CDHR4_uc011bcw.1_Missense_Mutation_p.Q119R NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN cadherin-like 29 precursor 119 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 AAGGTCCCGCTGCACATCCAC 0.592000 MST1R 4486 broad.mit.edu 37 3 49929015 49929015 + Splice_Site SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:49929015T>C uc003cxy.3 - 16 3617 c.3353_splice c.e16-1 p.R1118_splice MST1R_uc011bdc.1_Splice_Site NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CTGTGATGCCTGCAGAGCAGC 0.572000 ITIH4 3700 broad.mit.edu 37 3 52854794 52854794 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:52854794C>T uc003dfz.2 - 13 1723 c.1687G>A c.(1687-1689)GCA>ACA p.A563T ITIH4_uc011bel.1_Missense_Mutation_p.A293T|ITIH4_uc003dfy.2_Missense_Mutation_p.A427T|ITIH4_uc011bem.1_Missense_Mutation_p.A563T|ITIH4_uc011ben.1_Missense_Mutation_p.A563T NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 563 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GCATCGGATGCGGAGACACTG 0.532000 OREG0015616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IL17RD 54756 broad.mit.edu 37 3 57132299 57132299 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:57132299C>T uc003dil.2 - 12 1521 c.1432G>A c.(1432-1434)GTC>ATC p.V478I IL17RD_uc003dik.2_Missense_Mutation_p.V454I|IL17RD_uc010hna.2_Missense_Mutation_p.V334I|IL17RD_uc011bex.1_Missense_Mutation_p.V334I NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D precursor 478 SEFIR.|Cytoplasmic (Potential). Golgi membrane|integral to membrane|plasma membrane receptor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TCAAAGTAGACGGCGATAAAC 0.557000 PXK 54899 broad.mit.edu 37 3 58351616 58351616 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:58351616G>A uc003djz.1 + 2 217 c.118G>A c.(118-120)GTG>ATG p.V40M PXK_uc003djx.1_Missense_Mutation_p.V40M|PXK_uc003djy.1_Intron|PXK_uc003dka.1_Missense_Mutation_p.V40M|PXK_uc003dkb.1_Intron|PXK_uc003dkc.1_Intron|PXK_uc011bfe.1_Intron|PXK_uc010hnj.1_Intron|PXK_uc003dkd.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 40 PX. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TATTATTCGAGTGCAAAGAGG 0.303000 PXK 54899 broad.mit.edu 37 3 58376325 58376325 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:58376325G>A uc003djz.1 + 5 504 c.405G>A c.(403-405)CAG>CAA p.Q135Q PXK_uc003djx.1_Silent_p.Q135Q|PXK_uc003djy.1_Silent_p.Q118Q|PXK_uc003dka.1_Silent_p.Q135Q|PXK_uc003dkb.1_Silent_p.Q52Q|PXK_uc003dkc.1_Silent_p.Q118Q|PXK_uc011bfe.1_Silent_p.Q102Q|PXK_uc010hnj.1_Silent_p.Q102Q|PXK_uc003dkd.1_5'UTR|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 135 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) CCTTGCAACAGGTTTCCATGT 0.403000 ADAMTS9 56999 broad.mit.edu 37 3 64580100 64580100 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:64580100A>G uc003dmg.2 - 28 4222 c.4190T>C c.(4189-4191)CTG>CCG p.L1397P ADAMTS9_uc011bfo.1_Missense_Mutation_p.L1369P|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L1226P|ADAMTS9_uc011bfp.1_Missense_Mutation_p.L308P NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1397 TSP type-1 10. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCACCACACAGCTTAGTGCA 0.443000 LRIG1 26018 broad.mit.edu 37 3 66433766 66433766 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:66433766C>T uc003dmx.2 - 15 2145 c.2131G>A c.(2131-2133)GCC>ACC p.A711T SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A331T|LRIG1_uc003dmw.2_Missense_Mutation_p.A377T|LRIG1_uc010hnz.2_Missense_Mutation_p.A427T|LRIG1_uc010hoa.2_Missense_Mutation_p.A688T NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 711 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATTGGAGGGCCACTGTTTCT 0.597000 ROBO2 6092 broad.mit.edu 37 3 77617584 77617584 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:77617584C>T uc003dpy.3 + 13 2613 c.1970C>T c.(1969-1971)ACG>ATG p.T657M ROBO2_uc003dpz.2_Missense_Mutation_p.T661M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T661M NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 657 Fibronectin type-III 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTCACATGGACGGTAAGCTTT 0.438000 CRYBG3 131544 broad.mit.edu 37 3 97596423 97596423 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:97596423T>C uc003drx.2 + 1 605 c.541T>C c.(541-543)TCA>CCA p.S181P NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 CCTTCTCCAGTCAGTGTCAGA 0.458000 MYH15 22989 broad.mit.edu 37 3 108220694 108220694 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:108220694G>A uc003dxa.1 - 4 321 c.264C>T c.(262-264)AGC>AGT p.S88S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 88 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CCTCCTTTATGCTCAGACTCT 0.393000 ABHD10 55347 broad.mit.edu 37 3 111700631 111700631 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:111700631C>A uc003dyk.3 + 2 224 c.143C>A c.(142-144)GCT>GAT p.A48D ABHD10_uc011bhq.1_Intron NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 48 mitochondrion serine-type peptidase activity 0 CTTTGTTTAGCTTGTAGACAA 0.338000 CCDC80 151887 broad.mit.edu 37 3 112357944 112357944 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:112357944T>A uc003dzf.2 - 2 1027 c.809A>T c.(808-810)GAG>GTG p.E270V CCDC80_uc011bhv.1_Missense_Mutation_p.E270V|CCDC80_uc003dzg.2_Missense_Mutation_p.E270V|CCDC80_uc003dzh.1_Missense_Mutation_p.E270V NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 270 ovary(2) 2 CCTGATCTTCTCGATCCTACG 0.587000 SIDT1 54847 broad.mit.edu 37 3 113320472 113320472 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:113320472C>T uc003eak.2 + 11 1734 c.1083C>T c.(1081-1083)GCC>GCT p.A361A SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A361A|SIDT1_uc011big.1_Silent_p.A114A|SIDT1_uc011bih.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 361 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CCATTGCTGCCAGCACACCCG 0.413000 SIDT1 54847 broad.mit.edu 37 3 113329946 113329946 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:113329946C>A uc003eak.2 + 18 2463 c.1812C>A c.(1810-1812)GCC>GCA p.A604A SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A604A|SIDT1_uc011big.1_Silent_p.A357A|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Silent_p.A57A NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 604 Helical; (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CCTACTCTGCCTATGCCTCCT 0.577000 KIAA2018 205717 broad.mit.edu 37 3 113375167 113375167 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:113375167G>T uc003eam.2 - 7 5773 c.5362C>A c.(5362-5364)CGT>AGT p.R1788S KIAA2018_uc003eal.2_Missense_Mutation_p.R1732S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1788 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTCTTTTGACGGTCAATTGGT 0.428000 PDIA5 10954 broad.mit.edu 37 3 122808030 122808030 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:122808030T>C uc003egc.1 + 2 114 c.58T>C c.(58-60)TGG>CGG p.W20R PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 20 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) CCTGCCATCATGGCTGTCCTC 0.532000 ADCY5 111 broad.mit.edu 37 3 123022987 123022987 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:123022987C>T uc003egh.1 - 13 2486 c.2486G>A c.(2485-2487)CGG>CAG p.R829Q ADCY5_uc003egg.1_Missense_Mutation_p.R462Q|ADCY5_uc003egi.1_Missense_Mutation_p.R388Q NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 829 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CATCTTGGACCGCACGATCTT 0.408000 MYLK 4638 broad.mit.edu 37 3 123383021 123383021 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:123383021C>T uc003ego.2 - 23 4198 c.3916G>A c.(3916-3918)GGC>AGC p.G1306S MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.G106S|MYLK_uc011bjw.1_Missense_Mutation_p.G1306S|MYLK_uc003egp.2_Missense_Mutation_p.G1237S|MYLK_uc003egq.2_Missense_Mutation_p.G1306S|MYLK_uc003egr.2_Missense_Mutation_p.G1237S|MYLK_uc003egs.2_Missense_Mutation_p.G1130S NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1306 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. 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) GTGTAGCAGCCGCAGTGCTCC 0.622000 KALRN 8997 broad.mit.edu 37 3 124103833 124103833 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:124103833C>T uc003ehg.2 + 11 2033 c.1906C>T c.(1906-1908)CGG>TGG p.R636W KALRN_uc010hrv.1_Missense_Mutation_p.R636W|KALRN_uc003ehf.1_Missense_Mutation_p.R636W|KALRN_uc011bjy.1_Missense_Mutation_p.R636W|KALRN_uc003ehh.1_5'UTR NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 636 Spectrin 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGTGGAGCAGCGGAAGCTTCT 0.587000 MCM2 4171 broad.mit.edu 37 3 127339709 127339709 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:127339709C>T uc003ejp.2 + 14 2491 c.2434C>T c.(2434-2436)CGC>TGC p.R812C MCM2_uc011bkm.1_Missense_Mutation_p.R682C|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R765C NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 812 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CAGCGTCATGCGCAGCATGCG 0.597000 KBTBD12 166348 broad.mit.edu 37 3 127642066 127642066 + Silent SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:127642066T>A uc010hsr.2 + 1 165 c.162T>A c.(160-162)CCT>CCA p.P54P KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_5'Flank|KBTBD12_uc003ejz.2_Silent_p.P54P NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 54 BTB. ovary(1) 1 CATTTAGCCCTTATTTCAAAG 0.393000 COPG 22820 broad.mit.edu 37 3 128991652 128991652 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:128991652G>A uc003els.2 + 21 2261 c.2161G>A c.(2161-2163)GCC>ACC p.A721T COPG_uc010htb.2_Missense_Mutation_p.A627T NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 721 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 CCCCACAGTGGCCTGCACATT 0.567000 DNAJC13 23317 broad.mit.edu 37 3 132193882 132193882 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:132193882G>A uc003eor.2 + 22 2463 c.2398G>A c.(2398-2400)GAA>AAA p.E800K NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 800 heat shock protein binding ovary(1)|breast(1) 2 TATTGACAGAGAACTTGGAAG 0.338000 DZIP1L 199221 broad.mit.edu 37 3 137822381 137822381 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:137822381G>A uc003erq.2 - 2 796 c.433C>T c.(433-435)CGG>TGG p.R145W DZIP1L_uc003err.1_Missense_Mutation_p.R145W NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 145 intracellular zinc ion binding ovary(1)|pancreas(1) 2 TTGCGACGCCGGCGGCTCTCC 0.662000 DBR1 51163 broad.mit.edu 37 3 137886126 137886126 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:137886126A>C uc003erv.2 - 5 647 c.511T>G c.(511-513)TTC>GTC p.F171V DBR1_uc003eru.2_Missense_Mutation_p.F120V NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 171 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TGAGACAAGAATATATCTATA 0.333000 MRAS 22808 broad.mit.edu 37 3 138116242 138116242 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:138116242C>T uc003esh.3 + 3 831 c.270C>T c.(268-270)ATC>ATT p.I90I MRAS_uc011bmi.1_Silent_p.I14I|MRAS_uc003esi.3_Silent_p.I90I|MRAS_uc011bmj.1_Silent_p.I14I NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 90 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity p.I90M(1) lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCTTCCTCATCGTCTACTCCG 0.582000 XRN1 54464 broad.mit.edu 37 3 142142403 142142403 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:142142403G>A uc003eus.2 - 6 776 c.709C>T c.(709-711)CGG>TGG p.R237W XRN1_uc003eut.2_Missense_Mutation_p.R237W|XRN1_uc003euu.2_Missense_Mutation_p.R237W|XRN1_uc003euv.1_Missense_Mutation_p.R98W|XRN1_uc003euw.2_Missense_Mutation_p.R237W|XRN1_uc011bnh.1_Missense_Mutation_p.R27W NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 237 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ATAATTTACCGTTGTGTTTTT 0.229000 PAQR9 344838 broad.mit.edu 37 3 142681449 142681449 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:142681449T>C uc003evg.2 - 1 730 c.730A>G c.(730-732)ACC>GCC p.T244A PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 244 Helical; (Potential). integral to membrane receptor activity 0 AAGACGAAGGTGCGCAGCGCG 0.637000 SIAH2 6478 broad.mit.edu 37 3 150480304 150480304 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:150480304G>A uc003eyi.2 - 1 960 c.333C>T c.(331-333)TGC>TGT p.C111C NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 111 RING-type. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGCACGTCGGGCAGCAGCTCA 0.612000 AADACL2 344752 broad.mit.edu 37 3 151463416 151463416 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:151463416G>A uc003ezc.2 + 4 671 c.551G>A c.(550-552)TGC>TAC p.C184Y AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 184 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACCCGAATCTGCATTGCGGGA 0.368000 GMPS 8833 broad.mit.edu 37 3 155652794 155652794 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:155652794G>A uc003faq.2 + 14 2101 c.1766G>A c.(1765-1767)CGC>CAC p.R589H GMPS_uc011bom.1_Missense_Mutation_p.R490H NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 589 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGTACTTTACGCCAAGCTGAT 0.408000 T MLL AML TIPARP 25976 broad.mit.edu 37 3 156413783 156413783 + Missense_Mutation SNP C C T rs17854621 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:156413783C>T uc003fav.2 + 4 1464 c.1216C>T c.(1216-1218)CGC>TGC p.R406C TIPARP_uc003faw.2_Missense_Mutation_p.R406C NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 406 WWE. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACCCCTCTTCCGCTCCTGTTT 0.388000 SLC2A2 6514 broad.mit.edu 37 3 170725022 170725022 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:170725022A>G uc003fhe.1 - 5 836 c.527T>C c.(526-528)ATC>ACC p.I176T SLC2A2_uc003fhf.1_Missense_Mutation_p.I3T|SLC2A2_uc011bpu.1_Missense_Mutation_p.I49T NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 176 Helical; Name=4; (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AATTTCACCGATATACATAGG 0.423000 ATP11B 23200 broad.mit.edu 37 3 182597414 182597414 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:182597414A>G uc003flb.2 + 20 2640 c.2383A>G c.(2383-2385)ATG>GTG p.M795V ATP11B_uc003flc.2_Missense_Mutation_p.M379V|ATP11B_uc011bqm.1_Missense_Mutation_p.M99V|ATP11B_uc010hxf.1_5'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 795 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATGCTGTCGTATGGCTCCACT 0.353000 HTR3D 200909 broad.mit.edu 37 3 183756689 183756689 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:183756689G>A uc011bqv.1 + 8 1291 c.1291G>A c.(1291-1293)GCC>ACC p.A431T HTR3D_uc003fmj.2_Missense_Mutation_p.A256T|HTR3D_uc011bqu.1_Missense_Mutation_p.A381T|HTR3D_uc010hxp.2_Missense_Mutation_p.A210T NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 431 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGCGATGGACGCCCTGCTCTT 0.607000 FAM131A 131408 broad.mit.edu 37 3 184062665 184062665 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:184062665G>A uc003fog.2 + 3 2279 c.915G>A c.(913-915)ACG>ACA p.T305T FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.T251T|FAM131A_uc003foe.2_Silent_p.T251T NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 305 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACCACTAACGGGCAGCTGGG 0.627000 KNG1 3827 broad.mit.edu 37 3 186456939 186456939 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:186456939T>C uc011bsa.1 + 8 1194 c.982T>C c.(982-984)TGT>CGT p.C328R KNG1_uc003fqr.2_Missense_Mutation_p.C328R NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 328 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) GGAAACCACATGTTCCAAGGA 0.383000 LRRC15 131578 broad.mit.edu 37 3 194080702 194080702 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:194080702G>A uc003ftu.2 - 2 1157 c.1071C>T c.(1069-1071)GAC>GAT p.D357D LRRC15_uc003ftt.2_Silent_p.D363D NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 357 LRR 13.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGACGTTCCCGTCCAGGTCCT 0.587000 GP5 2814 broad.mit.edu 37 3 194118269 194118269 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:194118269G>A uc003ftv.1 - 2 774 c.743C>T c.(742-744)ACG>ATG p.T248M NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 248 Extracellular (Potential).|LRR 8. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TCTCGAAAGCGTCAAAGAACT 0.572000 LSG1 55341 broad.mit.edu 37 3 194366916 194366916 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:194366916A>G uc003fui.2 - 12 1915 c.1600T>C c.(1600-1602)TAC>CAC p.Y534H NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 534 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TTCAGGATGTAGCGCGCAGAT 0.453000 FAM43A 131583 broad.mit.edu 37 3 194407806 194407806 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:194407806G>A uc003fuj.2 + 1 1185 c.251G>A c.(250-252)CGC>CAC p.R84H NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 84 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) ATCCAGGCGCGCGGCGACGGC 0.632000 FGFRL1 53834 broad.mit.edu 37 4 1018193 1018193 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:1018193C>T uc003gce.2 + 6 974 c.813C>T c.(811-813)CGC>CGT p.R271R FGFRL1_uc003gcf.2_Silent_p.R271R|FGFRL1_uc003gcg.2_Silent_p.R271R|FGFRL1_uc010ibo.2_Silent_p.R271R NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 271 Ig-like C2-type 3.|Extracellular (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCAAGGTGCGCAGCGACGTGA 0.662000 FAM193A 8603 broad.mit.edu 37 4 2698298 2698298 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:2698298G>A uc010icl.2 + 16 2963 c.2612G>A c.(2611-2613)CGA>CAA p.R871Q FAM193A_uc010ick.2_Missense_Mutation_p.R1071Q|FAM193A_uc003gfd.2_Missense_Mutation_p.R871Q|FAM193A_uc011bvm.1_Missense_Mutation_p.R893Q|FAM193A_uc011bvn.1_Missense_Mutation_p.R871Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R725Q NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 871 ovary(3) 3 GCAGCGAAGCGAGCAAGGCAT 0.552000 HTT 3064 broad.mit.edu 37 4 3189409 3189409 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:3189409C>T uc011bvq.1 + 40 5172 c.5027C>T c.(5026-5028)TCG>TTG p.S1676L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1674 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTGTGGATATCGGGAATTCTG 0.403000 HGFAC 3083 broad.mit.edu 37 4 3449696 3449696 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:3449696G>A uc003ghc.2 + 12 1573 c.1570G>A c.(1570-1572)GAG>AAG p.E524K HGFAC_uc010icw.2_Missense_Mutation_p.E531K NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 524 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGCCTGCCCGAGCCCGGCAG 0.662000 ZNF518B 85460 broad.mit.edu 37 4 10445986 10445986 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:10445986G>A uc003gmn.2 - 3 2454 c.1967C>T c.(1966-1968)ACG>ATG p.T656M NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 656 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TATTTTAGACGTTGAGCTATT 0.428000 BOD1L 259282 broad.mit.edu 37 4 13601959 13601959 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:13601959C>T uc003gmz.1 - 10 6682 c.6565G>A c.(6565-6567)GAC>AAC p.D2189N BOD1L_uc010idr.1_Missense_Mutation_p.D1526N NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2189 DNA binding ovary(5)|breast(1) 6 CCCTCAAAGTCGGCGGTGCTT 0.532000 SLIT2 9353 broad.mit.edu 37 4 20597371 20597371 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:20597371C>T uc003gpr.1 + 31 3438 c.3234C>T c.(3232-3234)GAC>GAT p.D1078D SLIT2_uc003gps.1_Silent_p.D1070D NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1078 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.D1078D(1) central_nervous_system(4)|skin(4)|ovary(3) 11 TCGATTTTGACGACTGCCAAG 0.468000 PCDH7 5099 broad.mit.edu 37 4 30723127 30723127 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:30723127C>T uc003gsk.1 + 1 1091 c.83C>T c.(82-84)GCG>GTG p.A28V PCDH7_uc011bxw.1_Missense_Mutation_p.A28V|PCDH7_uc011bxx.1_Missense_Mutation_p.A28V NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 28 homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CTCAGCCTGGCGGCCGCCAAG 0.711000 KCTD8 386617 broad.mit.edu 37 4 44449851 44449851 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:44449851C>T uc003gwu.2 - 1 974 c.690G>A c.(688-690)CGG>CGA p.R230R NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 230 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GCGCCACACGCCGGAATTTGG 0.657000 HNSCC(17;0.042) ATP10D 57205 broad.mit.edu 37 4 47525167 47525167 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:47525167G>A uc003gxk.1 + 4 788 c.624G>A c.(622-624)GAG>GAA p.E208E ATP10D_uc003gxj.3_Silent_p.E208E NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 208 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GTCACATTGAGACTTCTGGTC 0.448000 CNGA1 1259 broad.mit.edu 37 4 47954605 47954605 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:47954605T>C uc003gxt.3 - 4 380 c.114A>G c.(112-114)GCA>GCG p.A38A uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.A107A|CNGA1_uc003gxv.1_Silent_p.A38A NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 38 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TTTACCTGCATGCTCCATTTT 0.303000 KIT 3815 broad.mit.edu 37 4 55524194 55524194 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:55524194C>T uc010igr.2 + 1 100 c.13C>T c.(13-15)CGC>TGC p.R5C KIT_uc010igs.2_Missense_Mutation_p.R5C NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 5 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAGAGGCGCTCGCGGCGCCTG 0.667000 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors PPAT 5471 broad.mit.edu 37 4 57267591 57267591 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:57267591T>C uc003hbr.2 - 7 993 c.791A>G c.(790-792)CAA>CGA p.Q264R NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 264 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) ATCAAGAGTTTGGACATTGTG 0.348000 ART3 419 broad.mit.edu 37 4 77003516 77003516 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:77003516C>T uc003hjo.2 + 3 728 c.609C>T c.(607-609)ATC>ATT p.I203I ART3_uc003hji.2_Silent_p.I203I|ART3_uc003hjj.2_Silent_p.I203I|ART3_uc003hjk.2_Silent_p.I203I|ART3_uc010ija.1_Silent_p.I203I|ART3_uc003hjn.2_Silent_p.I203I|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.I173I|ART3_uc010ijc.2_Silent_p.I173I|ART3_uc010ijd.2_Silent_p.I173I NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 203 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGTTATCCATCTACACATGCC 0.403000 SHROOM3 57619 broad.mit.edu 37 4 77662485 77662485 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:77662485C>T uc011cbx.1 + 5 4112 c.3159C>T c.(3157-3159)AGC>AGT p.S1053S SHROOM3_uc011cbz.1_Silent_p.S877S|SHROOM3_uc003hkf.1_Silent_p.S928S|SHROOM3_uc003hkg.2_Silent_p.S831S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1053 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CGGAGAGCAGCGTGGCCGACC 0.682000 FRAS1 80144 broad.mit.edu 37 4 79188036 79188036 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:79188036C>T uc003hlb.2 + 8 1176 c.736C>T c.(736-738)CGG>TGG p.R246W FRAS1_uc003hkw.2_Missense_Mutation_p.R246W|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 246 VWFC 4.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TATATGTGACCGGGGTGAGGT 0.488000 MMRN1 22915 broad.mit.edu 37 4 90872776 90872776 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:90872776C>T uc003hst.2 + 7 3210 c.3139C>T c.(3139-3141)CGG>TGG p.R1047W MMRN1_uc010iku.2_Missense_Mutation_p.R350W|MMRN1_uc011cds.1_Missense_Mutation_p.R789W NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1047 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AAGCTGTAGTCGGCATCCGTG 0.398000 MTTP 4547 broad.mit.edu 37 4 100543904 100543904 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:100543904G>A uc003hvc.3 + 19 2840 c.2584G>A c.(2584-2586)GTA>ATA p.V862I MTTP_uc011cej.1_Missense_Mutation_p.V889I NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 862 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AAAAGAAAGCGTATTAGCAGG 0.443000 MANBA 4126 broad.mit.edu 37 4 103635670 103635670 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:103635670C>T uc003hwg.2 - 5 698 c.598G>A c.(598-600)GGA>AGA p.G200R MANBA_uc011ces.1_Missense_Mutation_p.G143R NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 200 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TTCCAGATTCCCTGGGTAGGA 0.363000 LEF1 51176 broad.mit.edu 37 4 108999528 108999528 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:108999528G>A uc003hyt.1 - 8 1511 c.856C>T c.(856-858)CAT>TAT p.H286Y LEF1_uc011cfj.1_Missense_Mutation_p.H143Y|LEF1_uc011cfk.1_Missense_Mutation_p.H190Y|LEF1_uc003hyu.1_Missense_Mutation_p.H258Y|LEF1_uc003hyv.1_Missense_Mutation_p.H258Y|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 286 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CTCTGTTCATGCTGAGGCTTC 0.478000 PRDM5 11107 broad.mit.edu 37 4 121843685 121843685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:121843685G>A uc003idn.2 - 1 329 c.79C>T c.(79-81)CGC>TGC p.R27C PRDM5_uc003ido.2_Missense_Mutation_p.R27C|PRDM5_uc010ine.2_Missense_Mutation_p.R27C|PRDM5_uc010inf.2_Missense_Mutation_p.R27C|PRDM5_uc003idp.1_Missense_Mutation_p.R27C NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 27 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CGCACTCTGCGGGCCGTGTAG 0.652000 ANKRD50 57182 broad.mit.edu 37 4 125592251 125592251 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:125592251G>A uc003ifg.3 - 3 2447 c.2181C>T c.(2179-2181)CAC>CAT p.H727H ANKRD50_uc011cgo.1_Silent_p.H548H|ANKRD50_uc010inw.2_Silent_p.H727H NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 727 ANK 8. central_nervous_system(1) 1 CAACTGATGCGTGCCCTTTAC 0.468000 PHF17 79960 broad.mit.edu 37 4 129773352 129773352 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:129773352T>C uc003igk.2 + 6 905 c.625T>C c.(625-627)TGC>CGC p.C209R PHF17_uc003igj.2_Missense_Mutation_p.C209R|PHF17_uc003igl.2_Missense_Mutation_p.C197R|PHF17_uc011cgy.1_Missense_Mutation_p.C209R|PHF17_uc003igm.2_Missense_Mutation_p.C209R NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 209 PHD-type 1. apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 CTGTGATGTCTGCCAGTCTCC 0.493000 TBC1D9 23158 broad.mit.edu 37 4 141590817 141590817 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:141590817G>A uc010ioj.2 - 8 1680 c.1408C>T c.(1408-1410)CGG>TGG p.R470W NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 470 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TCGGGAGACCGCCGCCGATAC 0.488000 USP38 84640 broad.mit.edu 37 4 144106875 144106875 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:144106875A>G uc003ijb.2 + 1 806 c.272A>G c.(271-273)CAG>CGG p.Q91R USP38_uc003ija.3_Missense_Mutation_p.Q91R|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 91 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) CTCCTTCATCAGGGCTACCAC 0.567000 MAB21L2 10586 broad.mit.edu 37 4 151505070 151505070 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:151505070G>T uc003ilw.2 + 1 1994 c.889G>T c.(889-891)GGC>TGC p.G297C LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 297 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GTCGTGCCTGGGCGACCGGCT 0.617000 DCHS2 54798 broad.mit.edu 37 4 155254527 155254527 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:155254527C>T uc003inw.2 - 9 1336 c.1336G>A c.(1336-1338)GTG>ATG p.V446M DCHS2_uc003inx.2_Missense_Mutation_p.V945M NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 446 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGCACAACCACGGGCTGCGTC 0.602000 DDX60 55601 broad.mit.edu 37 4 169227858 169227858 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:169227858G>A uc003irp.2 - 5 570 c.278C>T c.(277-279)GCG>GTG p.A93V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 93 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GTTGAAATACGCATACTCGGC 0.368000 SLC12A7 10723 broad.mit.edu 37 5 1057726 1057726 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:1057726G>A uc003jbu.2 - 22 2952 c.2886C>T c.(2884-2886)ACC>ACT p.T962T NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 962 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CTGCCGCCGCGGTGTGGGACG 0.652000 ITGA1 3672 broad.mit.edu 37 5 52214676 52214676 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:52214676A>G uc003jou.2 + 16 2155 c.2103A>G c.(2101-2103)ACA>ACG p.T701T ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.T232T NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 701 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TAAATGCTACAGTGTGTTTTG 0.328000 MARVELD2 153562 broad.mit.edu 37 5 68716104 68716104 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:68716104G>A uc003jwq.2 + 2 951 c.892G>A c.(892-894)GTT>ATT p.V298I MARVELD2_uc010ixf.2_Missense_Mutation_p.V298I|MARVELD2_uc003jwr.1_Missense_Mutation_p.V298I|MARVELD2_uc003jws.1_Intron NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 298 MARVEL.|Helical; (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) TGGAATTAACGTTGCCTTGTT 0.423000 VCAN 1462 broad.mit.edu 37 5 82816265 82816265 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:82816265G>A uc003kii.3 + 7 2496 c.2140G>A c.(2140-2142)GGA>AGA p.G714R VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G714R|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 714 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCCATTTATGGGAAAAACAGA 0.368000 NR2F1 7025 broad.mit.edu 37 5 92924138 92924138 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:92924138C>T uc003kkj.2 + 2 2666 c.979C>T c.(979-981)CTG>TTG p.L327L NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 327 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AGCCATCGTGCTGTTCACGTC 0.428000 SLCO4C1 353189 broad.mit.edu 37 5 101606375 101606375 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:101606375G>A uc003knm.2 - 3 1042 c.755C>T c.(754-756)GCC>GTC p.A252V NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 252 Helical; Name=4; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATCAAGAAAGGCTGTTCCCAG 0.388000 HSD17B4 3295 broad.mit.edu 37 5 118829515 118829515 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:118829515C>T uc003ksj.2 + 11 865 c.742C>T c.(742-744)CGC>TGC p.R248C HSD17B4_uc011cwg.1_Missense_Mutation_p.R224C|HSD17B4_uc011cwh.1_Missense_Mutation_p.R230C|HSD17B4_uc011cwi.1_Missense_Mutation_p.R273C|HSD17B4_uc003ksk.3_Missense_Mutation_p.R101C|HSD17B4_uc011cwj.1_Missense_Mutation_p.R101C|HSD17B4_uc010jcn.1_Translation_Start_Site NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 248 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) ATAACCAGTACGCTGGGAGCG 0.398000 ADAMTS19 171019 broad.mit.edu 37 5 128797351 128797351 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:128797351G>A uc003kvb.1 + 2 630 c.630G>A c.(628-630)CCG>CCA p.P210P ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 210 Pro-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CATCCGCCCCGCAACCTCCCG 0.711000 CHSY3 337876 broad.mit.edu 37 5 129241306 129241306 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:129241306G>A uc003kvd.2 + 1 784 c.784G>A c.(784-786)GAC>AAC p.D262N NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 262 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GCGCGCCGACGACGATGTCTA 0.567000 IL13 3596 broad.mit.edu 37 5 131993886 131993886 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:131993886C>T uc003kxj.1 + 1 22 c.8C>T c.(7-9)CCG>CTG p.P3L NM_002188 NP_002179 P35225 IL13_HUMAN interleukin 13 precursor 3 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity ovary(1)|skin(1) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTATGCATCCGCTCCTCAAT 0.582000 OREG0003464 type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay PCDHA7 56141 broad.mit.edu 37 5 140215251 140215251 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:140215251G>A uc003lhq.2 + 1 1283 c.1283G>A c.(1282-1284)CGG>CAG p.R428Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428Q NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTACCGCGCGGGACGGGGGC 0.617000 PCDH1 5097 broad.mit.edu 37 5 141242842 141242842 + Silent SNP G G A rs149883982 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:141242842G>A uc003llq.2 - 3 3171 c.3054C>T c.(3052-3054)TCC>TCT p.S1018S PCDH1_uc003llp.2_Silent_p.S1018S|PCDH1_uc011dbf.1_Silent_p.S996S NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 1018 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AGCTGTAGTCGGAGTACTGCT 0.632000 POU4F3 5459 broad.mit.edu 37 5 145719765 145719765 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:145719765T>C uc003loa.2 + 2 864 c.775T>C c.(775-777)TAC>CAC p.Y259H NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 259 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGAGGCCGCCTACCGAGAGAA 0.607000 CSF1R 1436 broad.mit.edu 37 5 149447865 149447865 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:149447865G>T uc003lrl.2 - 10 1734 c.1539C>A c.(1537-1539)TTC>TTA p.F513L CSF1R_uc011dcd.1_Missense_Mutation_p.F365L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.F513L NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 513 Helical; (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GTGTGAAGAGGAACTCATCCG 0.498000 PDGFRB 5159 broad.mit.edu 37 5 149513265 149513265 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:149513265C>T uc003lro.2 - 6 1287 c.818G>A c.(817-819)CGC>CAC p.R273H PDGFRB_uc010jhd.2_Missense_Mutation_p.R112H|PDGFRB_uc011dcg.1_Missense_Mutation_p.R273H NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 273 Extracellular (Potential).|Ig-like C2-type 3. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAGGATGGAGCGGATGTGGTA 0.582000 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML SLC6A7 6534 broad.mit.edu 37 5 149576672 149576672 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:149576672C>T uc003lrr.2 + 4 788 c.417C>T c.(415-417)TAC>TAT p.Y139Y NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 139 Extracellular (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCATCGCCTACGTGCTCTTCT 0.617000 ITK 3702 broad.mit.edu 37 5 156668718 156668718 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:156668718G>T uc003lwo.1 + 11 1130 c.1048G>T c.(1048-1050)GGG>TGG p.G350W NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 350 cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTTACAGCAGGGCTGAGATA 0.502000 T SYK peripheral T-cell lymphoma LCP2 3937 broad.mit.edu 37 5 169714973 169714973 + Splice_Site SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:169714973C>T uc003man.1 - 3 395 c.188_splice c.e3+1 p.P63_splice LCP2_uc011det.1_Splice_Site NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GGAGTACTTACGGCACCCGGA 0.522000 TLX3 30012 broad.mit.edu 37 5 170737354 170737354 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:170737354G>A uc003mbf.2 + 2 704 c.622G>A c.(622-624)GCG>ACG p.A208T uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 208 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AATGACGGACGCGCAGGTCAA 0.642000 T BCL11B T-ALL BNIP1 662 broad.mit.edu 37 5 172590743 172590743 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:172590743C>T uc003mcj.3 + 6 610 c.506C>T c.(505-507)ACG>ATG p.T169M BNIP1_uc003mci.3_Missense_Mutation_p.T212M|BNIP1_uc003mck.3_Missense_Mutation_p.T178M|BNIP1_uc003mcl.3_Missense_Mutation_p.T135M NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 169 Cytoplasmic (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTTCACGAACGATCCTGGAT 0.507000 GPRIN1 114787 broad.mit.edu 37 5 176025207 176025207 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:176025207G>A uc003meo.1 - 2 1804 c.1629C>T c.(1627-1629)GCC>GCT p.A543A NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 543 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGAGGGGCTCGGCCTTCCCTG 0.637000 GRK6 2870 broad.mit.edu 37 5 176863243 176863243 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:176863243C>T uc011dfz.1 + 12 1387 c.1227C>T c.(1225-1227)TCC>TCT p.S409S GRK6_uc003mgp.2_Silent_p.S409S|GRK6_uc003mgq.2_Silent_p.S409S|GRK6_uc003mgs.1_Silent_p.S379S NM_002082 NP_002073 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 isoform B 409 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1)|stomach(1)|breast(1) 3 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) AGGAGTATTCCGAGCGCTTTT 0.627000 ZNF354A 6940 broad.mit.edu 37 5 178152470 178152470 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:178152470G>A uc003mjj.2 - 4 361 c.163C>T c.(163-165)CTC>TTC p.L55F NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 55 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) GTAAATGGGAGCCCTGCACAT 0.433000 ZNF454 285676 broad.mit.edu 37 5 178373922 178373922 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:178373922C>T uc003mjo.1 + 4 456 c.185C>T c.(184-186)ACG>ATG p.T62M ZNF454_uc010jkz.1_Missense_Mutation_p.T62M|ZNF454_uc003mjp.2_Silent_p.Y97Y NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) AAACCAGATACGTTTTCCCAG 0.463000 BPHL 670 broad.mit.edu 37 6 3140675 3140675 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:3140675C>T uc003mva.2 + 6 769 c.720C>T c.(718-720)CAC>CAT p.H240H BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.H223H NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 240 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) TGATTGTGCACGGTGAGAAGG 0.572000 RREB1 6239 broad.mit.edu 37 6 7230385 7230385 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:7230385G>A uc003mxc.2 + 10 2443 c.2053G>A c.(2053-2055)GCG>ACG p.A685T RREB1_uc003mxb.2_Missense_Mutation_p.A685T|RREB1_uc010jnx.2_Missense_Mutation_p.A685T NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 685 C2H2-type 8. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CGACAAGGCCGCGCTCATCCG 0.632000 CAGE1 285782 broad.mit.edu 37 6 7365800 7365800 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:7365800G>T uc003mxi.2 - 7 2326 c.1605C>A c.(1603-1605)GAC>GAA p.D535E CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.D453E|CAGE1_uc003mxk.1_Missense_Mutation_p.D453E NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 671 0 Ovarian(93;0.0418) CTGAATCACAGTCTATGACCT 0.353000 KIAA0319 9856 broad.mit.edu 37 6 24596335 24596335 + Silent SNP C C T rs148257977 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:24596335C>T uc011djo.1 - 3 804 c.567G>A c.(565-567)CCG>CCA p.P189P KIAA0319_uc011djp.1_Silent_p.P144P|KIAA0319_uc003neh.1_Silent_p.P189P|KIAA0319_uc011djq.1_Silent_p.P180P|KIAA0319_uc011djr.1_Silent_p.P189P NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 189 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CCTCGCTGCCCGGCAGTAGGC 0.622000 HIST1H2BO 8348 broad.mit.edu 37 6 27861423 27861423 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:27861423C>T uc003nkc.1 + 1 221 c.183C>T c.(181-183)GGC>GGT p.G61G HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 61 nucleosome assembly nucleosome|nucleus DNA binding 0 AGGCCATGGGCATCATGAACT 0.562000 BRD2 6046 broad.mit.edu 37 6 32947706 32947706 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:32947706G>A uc003ocn.3 + 11 3644 c.1943G>A c.(1942-1944)CGG>CAG p.R648Q BRD2_uc003ocq.3_Missense_Mutation_p.R648Q|BRD2_uc003ocp.3_Missense_Mutation_p.R528Q|BRD2_uc010juh.2_Missense_Mutation_p.R683Q NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 648 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GATGAGAAGCGGCAGCTGAGC 0.537000 CDKN1A 1026 broad.mit.edu 37 6 36652259 36652259 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:36652259T>C uc003omm.3 + 2 503 c.381T>C c.(379-381)GCT>GCC p.A127A CDKN1A_uc011dtq.1_Silent_p.A161A|CDKN1A_uc003oml.2_Silent_p.A127A|CDKN1A_uc003omn.2_Silent_p.A127A NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 127 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GGGAGCAGGCTGAAGGGTCCC 0.612000 Multiple_Endocrine_Neoplasia_type_1 FOXP4 116113 broad.mit.edu 37 6 41553174 41553174 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:41553174G>A uc003oql.2 + 5 887 c.429G>A c.(427-429)CAG>CAA p.Q143Q FOXP4_uc003oqm.2_Splice_Site_p.E142_splice|FOXP4_uc003oqn.2_Silent_p.Q143Q NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 143 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCAGCTACAGGAGTACTACA 0.632000 PPP2R5D 5528 broad.mit.edu 37 6 42974387 42974387 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:42974387C>T uc003oth.2 + 3 378 c.292C>T c.(292-294)CGG>TGG p.R98W MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 98 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAGCAAGAATCGGGAGCTGCA 0.562000 KLHDC3 116138 broad.mit.edu 37 6 42985381 42985381 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:42985381C>T uc003otl.2 + 3 448 c.279C>T c.(277-279)GGC>GGT p.G93G KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.G93G|KLHDC3_uc003otn.2_Missense_Mutation_p.A16V|KLHDC3_uc003oto.2_Intron NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 93 Kelch 2. reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding upper_aerodigestive_tract(1) 1 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TCCTTTGGGGCGGGCGGAATG 0.572000 TTBK1 84630 broad.mit.edu 37 6 43252016 43252016 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:43252016G>A uc003ouq.1 + 14 3817 c.3538G>A c.(3538-3540)GCG>ACG p.A1180T NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1180 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ATCCCATGGCGCGGCCCCAGC 0.701000 CLIC5 53405 broad.mit.edu 37 6 45922903 45922903 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:45922903C>T uc003oxv.3 - 2 725 c.619G>A c.(619-621)GTG>ATG p.V207M CLIC5_uc003oxu.3_Missense_Mutation_p.V48M|CLIC5_uc003oxx.2_Missense_Mutation_p.V48M NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 207 Helical; Note=After insertion into the membrane; (Potential). female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 ACATTGAACACGACTCCTTTC 0.478000 MEP1A 4224 broad.mit.edu 37 6 46806746 46806746 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:46806746C>T uc010jzh.1 + 14 2156 c.2114C>T c.(2113-2115)ACG>ATG p.T705M MEP1A_uc011dwg.1_Missense_Mutation_p.T427M|MEP1A_uc011dwh.1_Missense_Mutation_p.T733M|MEP1A_uc011dwi.1_Missense_Mutation_p.T605M NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 705 EGF-like.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TTCTTCTACACGGGGGAGCGC 0.587000 MUT 4594 broad.mit.edu 37 6 49426894 49426894 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:49426894A>G uc003ozg.3 - 2 541 c.286T>C c.(286-288)TAT>CAT p.Y96H NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 96 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) ATGGTAGGATATGGTCCACGT 0.448000 KCNQ5 56479 broad.mit.edu 37 6 73843172 73843172 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:73843172C>T uc003pgk.2 + 10 1623 c.1276C>T c.(1276-1278)CGC>TGC p.R426C KCNQ5_uc011dyh.1_Missense_Mutation_p.R445C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436C|KCNQ5_uc010kat.2_Missense_Mutation_p.R417C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176C NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 426 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGAGCGAGTGCGCATGGCTAG 0.507000 CASP8AP2 9994 broad.mit.edu 37 6 90573828 90573828 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:90573828G>A uc003pnr.2 + 7 2596 c.2400G>A c.(2398-2400)TCG>TCA p.S800S CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S800S|CASP8AP2_uc011dzz.1_Silent_p.S800S NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 800 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AGAGTAAGTCGTGTCATCTGG 0.403000 MANEA 79694 broad.mit.edu 37 6 96034484 96034484 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:96034484A>G uc003poo.1 + 2 309 c.169A>G c.(169-171)AAA>GAA p.K57E MANEA_uc003pon.2_Missense_Mutation_p.K57E NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 57 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TCATTTGGGGAAAAATTTTGA 0.358000 MANEA 79694 broad.mit.edu 37 6 96034832 96034832 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:96034832A>G uc003poo.1 + 2 657 c.517A>G c.(517-519)ATG>GTG p.M173V MANEA_uc003pon.2_Missense_Mutation_p.M173V NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 173 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AGAAACTCACATGAGACAAAT 0.318000 KIAA0776 23376 broad.mit.edu 37 6 96986656 96986656 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:96986656C>T uc003por.2 + 10 1176 c.1128C>T c.(1126-1128)TTC>TTT p.F376F KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 376 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) CAGAACTGTTCCGTGAGCTGA 0.373000 SFRS18 25957 broad.mit.edu 37 6 99848925 99848925 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:99848925G>A uc003ppo.3 - 12 2137 c.1909C>T c.(1909-1911)CGA>TGA p.R637* SFRS18_uc003ppl.2_Nonsense_Mutation_p.R183*|SFRS18_uc003ppp.3_Nonsense_Mutation_p.R637*|SFRS18_uc011eag.1_Nonsense_Mutation_p.R637* NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 637 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) CGCCTATCTCGACTCCTACTG 0.403000 SFRS18 25957 broad.mit.edu 37 6 99857094 99857094 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:99857094G>A uc003ppo.3 - 6 856 c.628C>T c.(628-630)CGT>TGT p.R210C SFRS18_uc003ppp.3_Missense_Mutation_p.R210C|SFRS18_uc011eag.1_Missense_Mutation_p.R210C|SFRS18_uc003ppr.2_Missense_Mutation_p.R210C NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 210 Pro-rich. nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) ATAGGTGAACGCTGACGATCC 0.463000 PRDM13 59336 broad.mit.edu 37 6 100054917 100054917 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:100054917G>A uc003pqg.1 + 1 268 c.7G>A c.(7-9)GGA>AGA p.G3R NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 3 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) AACAATGCACGGAGCCGCCAG 0.692000 FAM184A 79632 broad.mit.edu 37 6 119288105 119288105 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:119288105C>T uc003pyj.2 - 15 3276 c.2928G>A c.(2926-2928)ATG>ATA p.M976I FAM184A_uc003pyk.3_Missense_Mutation_p.M807I|FAM184A_uc003pyl.3_Missense_Mutation_p.M807I|FAM184A_uc003pyi.2_RNA NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 976 ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 ATTTTTCTTCCATTTCTTCTA 0.299000 ENPP1 5167 broad.mit.edu 37 6 132179844 132179844 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:132179844T>C uc011ecf.1 + 7 772 c.752T>C c.(751-753)GTA>GCA p.V251A ENPP1_uc003qcy.2_5'Flank NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 251 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ATGAGACCGGTATATCCAACA 0.343000 TAAR1 134864 broad.mit.edu 37 6 132966154 132966154 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:132966154C>A uc003qdm.1 - 1 989 c.989G>T c.(988-990)AGG>ATG p.R330M NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 330 Cytoplasmic (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TAATTTACACCTGGATGAATC 0.294000 HECA 51696 broad.mit.edu 37 6 139488396 139488396 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:139488396G>A uc003qin.2 + 2 1532 c.1247G>A c.(1246-1248)GGA>GAA p.G416E NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 416 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CTGGTGGATGGAACTTTGTTC 0.517000 GRM1 2911 broad.mit.edu 37 6 146351103 146351103 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:146351103C>A uc010khw.1 + 2 920 c.450C>A c.(448-450)GGC>GGA p.G150G GRM1_uc010khu.1_Silent_p.G150G|GRM1_uc010khv.1_Silent_p.G150G|GRM1_uc003qll.2_Silent_p.G150G|GRM1_uc011edz.1_Silent_p.G150G|GRM1_uc011eea.1_Silent_p.G150G NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 150 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCCCCCCAGGCAGGACTAAGA 0.562000 LATS1 9113 broad.mit.edu 37 6 150023031 150023031 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:150023031A>G uc003qmu.1 - 2 780 c.232T>C c.(232-234)TTG>CTG p.L78L LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Silent_p.L78L|LATS1_uc003qmw.2_Silent_p.L78L|LATS1_uc010kig.1_5'UTR NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 78 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATTTCCTGCAAGGCTTTATGA 0.413000 TIAM2 26230 broad.mit.edu 37 6 155451082 155451082 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:155451082C>T uc003qqb.2 + 6 1998 c.725C>T c.(724-726)TCC>TTC p.S242F TIAM2_uc003qqe.2_Missense_Mutation_p.S242F NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 242 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AAAGGCAGCTCCCTGAGTTCT 0.672000 IQCE 23288 broad.mit.edu 37 7 2645582 2645582 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:2645582G>A uc003smo.3 + 20 2000 c.1816G>A c.(1816-1818)GTC>ATC p.V606I IQCE_uc003sml.1_Missense_Mutation_p.V606I|IQCE_uc011jvy.1_Missense_Mutation_p.V590I|IQCE_uc011jvz.1_Missense_Mutation_p.V541I|IQCE_uc003smk.3_Missense_Mutation_p.V590I|IQCE_uc003smn.3_Missense_Mutation_p.V541I NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 606 IQ 2. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGAGGCCATCGTCATCATCCA 0.687000 CARD11 84433 broad.mit.edu 37 7 2959065 2959065 + Silent SNP C C T rs141131560 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:2959065C>T uc003smv.2 - 18 2855 c.2451G>A c.(2449-2451)GCG>GCA p.A817A NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 817 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGTCGACCCGCGCGCACAGCC 0.612000 Mis DLBCL MMD2 221938 broad.mit.edu 37 7 4947221 4947221 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:4947221C>T uc003sno.3 - 7 815 c.619G>A c.(619-621)GAG>AAG p.E207K MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.E183K|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 207 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CAGATGCCCTCGGTGTTGGGC 0.612000 TNRC18 84629 broad.mit.edu 37 7 5347890 5347890 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:5347890C>T uc003soi.3 - 30 9103 c.8754G>A c.(8752-8754)TCG>TCA p.S2918S NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2918 BAH. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCACTTGTGCGACACCGTCT 0.622000 TNRC18 84629 broad.mit.edu 37 7 5348943 5348943 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:5348943G>A uc003soi.3 - 28 8794 c.8445C>T c.(8443-8445)GGC>GGT p.G2815G NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2815 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCATCTCCTTGCCGCGCACGA 0.662000 PMS2 5395 broad.mit.edu 37 7 6026915 6026915 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:6026915G>A uc003spl.2 - 11 1568 c.1481C>T c.(1480-1482)TCG>TTG p.S494L PMS2_uc003spj.2_Missense_Mutation_p.S388L|PMS2_uc003spk.2_Missense_Mutation_p.S359L|PMS2_uc011jwl.1_Missense_Mutation_p.S359L|PMS2_uc010ktg.2_Missense_Mutation_p.S183L|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.S494L NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 494 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GCCGTGCCCCGAGTCCTTCTC 0.622000 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome ABCB5 340273 broad.mit.edu 37 7 20682989 20682989 + Missense_Mutation SNP G G A rs117477399 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:20682989G>A uc010kuh.2 + 6 734 c.497G>A c.(496-498)CGC>CAC p.R166H NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CTTAACACTCGCATGACAGAG 0.393000 HERPUD2 64224 broad.mit.edu 37 7 35678044 35678044 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:35678044G>T uc003tet.2 - 5 1338 c.533C>A c.(532-534)CCT>CAT p.P178H HERPUD2_uc003tes.3_Missense_Mutation_p.P178H NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 178 response to unfolded protein integral to membrane ovary(3) 3 TGGGAATCCAGGTGGAGCAGC 0.398000 AEBP1 165 broad.mit.edu 37 7 44144463 44144463 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:44144463C>T uc003tkb.2 + 1 504 c.199C>T c.(199-201)CGA>TGA p.R67* NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 67 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCGCGGGTCCGAAAAGCCCA 0.716000 POLD2 5425 broad.mit.edu 37 7 44157558 44157558 + Missense_Mutation SNP C C T rs149066641 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:44157558C>T uc010kxz.2 - 4 976 c.326G>A c.(325-327)CGG>CAG p.R109Q POLD2_uc003tke.3_Missense_Mutation_p.R109Q|POLD2_uc010kya.2_Missense_Mutation_p.R109Q|POLD2_uc003tkf.3_Missense_Mutation_p.R109Q NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 109 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 GCTGACCTCCCGCAGGATGGA 0.637000 PKD1L1 168507 broad.mit.edu 37 7 47925507 47925507 + Silent SNP G G A rs144656414 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:47925507G>A uc003tny.1 - 18 2982 c.2982C>T c.(2980-2982)CCC>CCT p.P994P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 994 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CAAGGGTCACGGGTGAAGGTT 0.582000 ABCA13 154664 broad.mit.edu 37 7 48563978 48563978 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:48563978G>A uc003toq.2 + 54 14211 c.14186G>A c.(14185-14187)CGC>CAC p.R4729H ABCA13_uc010kys.1_Missense_Mutation_p.R1804H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R459H NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4729 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CATTATCGACGCTTTTTCCAG 0.353000 IKZF1 10320 broad.mit.edu 37 7 50459497 50459497 + Silent SNP C C T rs150385329 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:50459497C>T uc003tow.3 + 8 954 c.786C>T c.(784-786)CTC>CTT p.L262L IKZF1_uc003tox.3_Silent_p.L220L|IKZF1_uc003toy.3_Silent_p.L220L|IKZF1_uc011kck.1_Silent_p.L175L|IKZF1_uc003toz.3_Silent_p.L232L|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.L14L NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 262 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AGAGATCTCTCGTGCTGGACA 0.398000 D ALL FIGNL1 63979 broad.mit.edu 37 7 50514212 50514212 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:50514212C>T uc003tpc.2 - 4 1151 c.774G>A c.(772-774)AAG>AAA p.K258K FIGNL1_uc003tpb.2_Silent_p.K147K|FIGNL1_uc003tpd.2_Silent_p.K258K|FIGNL1_uc003tpe.2_Silent_p.K258K|FIGNL1_uc010kyy.2_Silent_p.K258K NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 258 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) CATAAAAAGACTTCCTCTGTG 0.398000 CLIP2 7461 broad.mit.edu 37 7 73771801 73771801 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:73771801T>C uc003uam.2 + 6 1536 c.1209T>C c.(1207-1209)CAT>CAC p.H403H CLIP2_uc003uan.2_Silent_p.H403H NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 403 Potential. microtubule associated complex skin(3) 3 AGGCACAGCATGAGCAGGTGA 0.622000 RHBDD2 57414 broad.mit.edu 37 7 75511206 75511206 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:75511206G>A uc003udw.1 + 2 322 c.238G>A c.(238-240)GCT>ACT p.A80T RHBDD2_uc003udv.1_5'UTR NM_001040456 NP_001035546 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 isoform a 80 Helical; (Potential). integral to membrane serine-type endopeptidase activity 0 GCTCTGCGGCGCTATCATCAT 0.562000 PCLO 27445 broad.mit.edu 37 7 82578874 82578874 + Missense_Mutation SNP C C T rs139066156 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:82578874C>T uc003uhx.2 - 6 11319 c.11030G>A c.(11029-11031)CGT>CAT p.R3677H PCLO_uc003uhv.2_Missense_Mutation_p.R3677H|PCLO_uc010lec.2_Missense_Mutation_p.R642H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3608 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGACATAGAACGCTGCATCAT 0.478000 ABCB1 5243 broad.mit.edu 37 7 87214926 87214926 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:87214926G>T uc003uiz.1 - 5 606 c.188C>A c.(187-189)GCT>GAT p.A63D ABCB1_uc011khc.1_Missense_Mutation_p.A63D NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 63 ABC transmembrane type-1 1.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGGAAGTCCAGCCCCATGGAT 0.398000 AKAP9 10142 broad.mit.edu 37 7 91645529 91645529 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:91645529C>T uc003ulg.2 + 11 3924 c.3699C>T c.(3697-3699)TAC>TAT p.Y1233Y AKAP9_uc003ule.2_Silent_p.Y1245Y|AKAP9_uc003ulf.2_Silent_p.Y1233Y|AKAP9_uc003uli.2_Silent_p.Y858Y NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1245 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGGTGATTACATTTCTGAAA 0.294000 T BRAF papillary thyroid PEX1 5189 broad.mit.edu 37 7 92147285 92147285 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:92147285G>A uc003uly.2 - 5 640 c.544C>T c.(544-546)CGC>TGC p.R182C PEX1_uc011khr.1_Translation_Start_Site|PEX1_uc010ley.2_Missense_Mutation_p.R182C|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 182 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTGGCTCGGCGTGTCTTTGGC 0.388000 SGCE 8910 broad.mit.edu 37 7 94285328 94285328 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:94285328G>A uc003unl.2 - 1 194 c.83C>T c.(82-84)GCG>GTG p.A28V SGCE_uc003unm.2_Missense_Mutation_p.A28V|SGCE_uc003unn.2_Missense_Mutation_p.A28V|SGCE_uc011kic.1_Missense_Mutation_p.A28V|SGCE_uc011kid.1_Missense_Mutation_p.A28V|PEG10_uc011kie.1_5'Flank NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 28 Extracellular (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GCCAGTGGTCGCGGGGCTCAT 0.697000 OREG0018170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PPP1R9A 55607 broad.mit.edu 37 7 94540617 94540617 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:94540617C>T uc003unp.2 + 2 1474 c.1192C>T c.(1192-1194)CAC>TAC p.H398Y PPP1R9A_uc010lfj.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kif.1_Missense_Mutation_p.H398Y|PPP1R9A_uc003unq.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kig.1_Missense_Mutation_p.H398Y NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 398 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGTGTACATGCACAGTGACTA 0.443000 HNSCC(28;0.073) TRRAP 8295 broad.mit.edu 37 7 98556979 98556979 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:98556979A>G uc003upp.2 + 44 6543 c.6334A>G c.(6334-6336)ACC>GCC p.T2112A TRRAP_uc011kis.1_Missense_Mutation_p.T2094A|TRRAP_uc003upr.2_Missense_Mutation_p.T1811A NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2112 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAATGACAACACCAACACAGC 0.552000 TRRAP 8295 broad.mit.edu 37 7 98609104 98609104 + Silent SNP G G A rs140449855 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:98609104G>A uc003upp.2 + 71 11450 c.11241G>A c.(11239-11241)CCG>CCA p.P3747P TRRAP_uc011kis.1_Silent_p.P3718P|TRRAP_uc003upr.2_Silent_p.P3453P|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3747 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTCCGGCCCGTTGACAGCGT 0.592000 CPSF4 10898 broad.mit.edu 37 7 99051685 99051685 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:99051685G>A uc003uqj.2 + 7 810 c.667G>A c.(667-669)GGG>AGG p.G223R PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.G198R|CPSF4_uc003uqk.2_Missense_Mutation_p.G197R|CPSF4_uc011kix.1_Missense_Mutation_p.G145R NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 223 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAGGTCATCGGGGTCATGCA 0.582000 ZAN 7455 broad.mit.edu 37 7 100357453 100357453 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:100357453G>A uc003uwj.2 + 18 3846 c.3681G>A c.(3679-3681)AAG>AAA p.K1227K ZAN_uc003uwk.2_Silent_p.K1227K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1227 VWFD 1.|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) CCCTGCTTAAGGGCAGACGCA 0.602000 CUX1 1523 broad.mit.edu 37 7 101845115 101845115 + Silent SNP G G A rs115507543 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:101845115G>A uc003uyx.3 + 18 2576 c.2538G>A c.(2536-2538)ACG>ACA p.T846T CUX1_uc003uys.3_Silent_p.T857T|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 846 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 CCGAAGAAACGGGCGGCGGGA 0.687000 RELN 5649 broad.mit.edu 37 7 103368593 103368593 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:103368593C>T uc003vca.2 - 7 878 c.718G>A c.(718-720)GTC>ATC p.V240I RELN_uc010liz.2_Missense_Mutation_p.V240I NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 240 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGAAGGTGACGGCATTGCCA 0.433000 CDHR3 222256 broad.mit.edu 37 7 105635244 105635244 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:105635244C>T uc003vdl.3 + 5 669 c.561C>T c.(559-561)GGC>GGT p.G187G CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Silent_p.G174G|CDHR3_uc011klt.1_Silent_p.G99G NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 187 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CTGCTAATGGCACCCTCTTCT 0.438000 LAMB1 3912 broad.mit.edu 37 7 107615542 107615542 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:107615542A>G uc003vew.2 - 12 1706 c.1371T>C c.(1369-1371)TCT>TCC p.S457S LAMB1_uc003vev.2_Silent_p.S481S|LAMB1_uc003vex.2_Silent_p.S457S|LAMB1_uc010ljn.1_Silent_p.S543S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 457 Laminin EGF-like 3. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCAAGCACAAGCTGTATTAA 0.423000 DOCK4 9732 broad.mit.edu 37 7 111368616 111368616 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:111368616T>C uc003vfx.2 - 52 5884 c.5615A>G c.(5614-5616)CAG>CGG p.Q1872R DOCK4_uc011kml.1_Missense_Mutation_p.Q753R|DOCK4_uc011kmm.1_Missense_Mutation_p.Q741R|DOCK4_uc003vfw.2_Missense_Mutation_p.Q1284R|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1917R|DOCK4_uc003vfv.2_Missense_Mutation_p.Q185R NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1872 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GGGGGCCGACTGTTCATTCAC 0.632000 PTPRZ1 5803 broad.mit.edu 37 7 121651137 121651137 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:121651137T>C uc003vjy.2 + 12 2432 c.2037T>C c.(2035-2037)ACT>ACC p.T679T PTPRZ1_uc003vjz.2_Silent_p.T679T|PTPRZ1_uc011knt.1_Silent_p.T129T NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 679 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CTAATTACACTGAGATACGTG 0.468000 FAM40B 57464 broad.mit.edu 37 7 129096402 129096402 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:129096402G>A uc011koy.1 + 9 997 c.957G>A c.(955-957)CCG>CCA p.P319P FAM40B_uc003vow.2_Silent_p.P319P|FAM40B_uc011koz.1_5'Flank NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 319 0 CTGCCTCCCCGCCCTCTTACA 0.597000 C7orf49 78996 broad.mit.edu 37 7 134851386 134851386 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:134851386C>T uc003vsl.2 - 4 718 c.451G>A c.(451-453)GTC>ATC p.V151I C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.V122I|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.V150I|C7orf49_uc003vso.2_Missense_Mutation_p.V96I NM_024033 NP_076938 Q9BWK5 MRI_HUMAN modulator of retrovirus infection 151 cytoplasm large_intestine(1)|ovary(1) 2 ATCTCCCGGACGTATTTCAGC 0.607000 NUP205 23165 broad.mit.edu 37 7 135322803 135322803 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:135322803A>G uc003vsw.2 + 37 5292 c.5261A>G c.(5260-5262)CAG>CGG p.Q1754R NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1754 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CTGGCTATGCAGCAGGTAAGA 0.328000 BRAF 673 broad.mit.edu 37 7 140476719 140476719 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:140476719C>A uc003vwc.3 - 13 1748 c.1687G>T c.(1687-1689)GGC>TGC p.G563C NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 563 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TACTCCATGCCCTGTGCAGTC 0.388000 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome TRPV6 55503 broad.mit.edu 37 7 142571332 142571332 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:142571332A>C uc003wbx.1 - 13 1873 c.1657T>G c.(1657-1659)TTC>GTC p.F553V TRPV6_uc003wbw.1_Missense_Mutation_p.F339V|TRPV6_uc010lou.1_Missense_Mutation_p.F424V NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 553 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CTGTACATGAAGGGCAGGTCC 0.562000 SSPO 23145 broad.mit.edu 37 7 149499038 149499038 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:149499038G>T uc010lpk.2 + 51 7490 c.7490G>T c.(7489-7491)GGC>GTC p.G2497V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2497 LDL-receptor class A 10. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACGAGGATGGCTGTGGTATG 0.692000 ZNF862 643641 broad.mit.edu 37 7 149557637 149557637 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:149557637G>A uc010lpn.2 + 7 1580 c.1388G>A c.(1387-1389)CGT>CAT p.R463H ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 463 TTF-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 TACAGGCCCCGTTCCATTCAG 0.527000 ACCN3 9311 broad.mit.edu 37 7 150749150 150749150 + Splice_Site SNP G G C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:150749150G>C uc003win.2 + 8 1754 c.1386_splice c.e8+1 p.E462_splice ACCN3_uc003wio.2_Splice_Site_p.E462_splice|ACCN3_uc003wip.2_Splice_Site_p.E462_splice|ACCN3_uc003wiq.2_Splice_Site NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCTGTGAGGTGGGCCAGGG 0.652000 RBM33 155435 broad.mit.edu 37 7 155493520 155493520 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:155493520A>T uc010lqk.1 + 6 989 c.621A>T c.(619-621)GAA>GAT p.E207D RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 207 Glu-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) aatcagatgaagaagaagaag 0.299000 FBXO25 26260 broad.mit.edu 37 8 413102 413102 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:413102C>T uc003wox.2 + 9 1205 c.939C>T c.(937-939)TAC>TAT p.Y313Y FBXO25_uc003woy.2_Silent_p.Y313Y|FBXO25_uc003woz.2_Silent_p.Y246Y|FBXO25_uc003wpa.2_Silent_p.Y96Y NM_183421 NP_904357 Q8TCJ0 FBX25_HUMAN F-box only protein 25 isoform 1 313 nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity lung(1) 1 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) AGGAGCAGTACGGAGACACAC 0.383000 CSMD1 64478 broad.mit.edu 37 8 3141799 3141799 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:3141799G>T uc011kwk.1 - 26 4413 c.4023C>A c.(4021-4023)GAC>GAA p.D1341E CSMD1_uc011kwj.1_Missense_Mutation_p.D733E|CSMD1_uc003wqe.2_Missense_Mutation_p.D497E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1341 Extracellular (Potential).|CUB 8. 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) GGATGTCACTGTCCACCGGCC 0.562000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SGK223 157285 broad.mit.edu 37 8 8233764 8233764 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:8233764G>A uc003wsh.3 - 2 2155 c.2155C>T c.(2155-2157)CGG>TGG p.R719W NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 719 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGTACTCACCGCGACTTTGGA 0.552000 RP1L1 94137 broad.mit.edu 37 8 10470587 10470587 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:10470587G>A uc003wtc.2 - 4 1250 c.1021C>T c.(1021-1023)CGG>TGG p.R341W NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 341 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCCATCCTCCGGGACCATAGG 0.637000 SOX7 83595 broad.mit.edu 37 8 10683722 10683722 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:10683722T>C uc011kwz.1 - 5 367 c.334A>G c.(334-336)AGC>GGC p.S112G PINX1_uc003wth.2_Missense_Mutation_p.S112G|PINX1_uc003wti.2_Missense_Mutation_p.S112G|MIR1322_hsa-mir-1322|MI0006653_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) TCCTCAAGGCTAAAAGATTTC 0.303000 DLC1 10395 broad.mit.edu 37 8 12957761 12957761 + Silent SNP G G A rs148579135 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:12957761G>A uc003wwm.2 - 9 2529 c.2085C>T c.(2083-2085)AGC>AGT p.S695S DLC1_uc003wwk.1_Silent_p.S258S|DLC1_uc003wwl.1_Silent_p.S292S|DLC1_uc011kxx.1_Silent_p.S184S NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 695 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AGATGGGCCCGCTGATGATCA 0.577000 SLC7A2 6542 broad.mit.edu 37 8 17417858 17417858 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:17417858C>T uc011kyc.1 + 9 1489 c.1320C>T c.(1318-1320)TAC>TAT p.Y440Y SLC7A2_uc011kyd.1_Silent_p.Y479Y|SLC7A2_uc011kye.1_Silent_p.Y480Y|SLC7A2_uc011kyf.1_Silent_p.Y440Y NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 440 Cytoplasmic (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) GCTTATCTTACGACCAGCCCA 0.473000 NAT2 10 broad.mit.edu 37 8 18257855 18257855 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:18257855T>C uc003wyw.1 + 2 449 c.342T>C c.(340-342)ATT>ATC p.I114I NM_000015 NP_000006 P11245 ARY2_HUMAN N-acetyltransferase 2 114 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity ovary(1)|skin(1) 2 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AGGTGACCATTGACGGCAGGA 0.483000 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of NPM2 10361 broad.mit.edu 37 8 21883281 21883281 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:21883281A>G uc003xab.2 + 4 926 c.268A>G c.(268-270)ATG>GTG p.M90V NPM2_uc003xac.2_Missense_Mutation_p.M90V|NPM2_uc003xad.2_Missense_Mutation_p.M90V|NPM2_uc003xae.2_Missense_Mutation_p.M90V|NPM2_uc003xaf.2_Missense_Mutation_p.M90V NM_182795 NP_877724 Q86SE8 NPM2_HUMAN nucleoplasmin 2 90 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) AGTCCTCCCCATGGTGCGCAT 0.592000 C8orf58 541565 broad.mit.edu 37 8 22459825 22459825 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:22459825G>A uc003xce.2 + 5 991 c.879G>A c.(877-879)AAG>AAA p.K293K C8orf58_uc011kzl.1_Silent_p.K293K|C8orf58_uc003xcf.2_Silent_p.K293K|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 293 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) AGGGACACAAGGTAGGGGACA 0.647000 TNFRSF10C 8794 broad.mit.edu 37 8 22974326 22974326 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:22974326G>T uc003xcy.2 + 5 763 c.562G>T c.(562-564)GGG>TGG p.G188W TNFRSF10C_uc011kzr.1_RNA NM_003841 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, 188 TAPE 2. apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CACCAGCCCGGGGACTCCTGC 0.622000 STC1 6781 broad.mit.edu 37 8 23709860 23709860 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:23709860G>A uc003xdw.1 - 2 440 c.156C>T c.(154-156)GTC>GTT p.V52V NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 52 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CCCCGCAGCCGACCTGTAGAG 0.488000 EXTL3 2137 broad.mit.edu 37 8 28574480 28574480 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:28574480A>G uc003xgz.1 + 3 1497 c.904A>G c.(904-906)ACC>GCC p.T302A NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 302 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GGCCCAGTCCACCTTCTACAC 0.512000 NRG1 3084 broad.mit.edu 37 8 32621538 32621538 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:32621538C>T uc003xiv.2 + 12 2058 c.1541C>T c.(1540-1542)GCT>GTT p.A514V NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.A519V|NRG1_uc003xiw.2_Missense_Mutation_p.A511V|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.A256V|NRG1_uc010lvs.2_Missense_Mutation_p.A256V|NRG1_uc010lvp.2_Missense_Mutation_p.A468V|NRG1_uc010lvq.2_Missense_Mutation_p.A451V|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.A357V|NRG1_uc003xja.2_Missense_Mutation_p.A325V NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 514 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AGCCTCCCTGCTAGCCCCTTG 0.572000 MAK16 84549 broad.mit.edu 37 8 33346315 33346315 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:33346315G>A uc003xjj.2 + 4 279 c.239G>A c.(238-240)CGG>CAG p.R80Q C8orf41_uc010lvu.1_Intron NM_032509 NP_115898 Q9BXY0 MAK16_HUMAN MAK16 homolog 80 nucleolus ovary(1) 1 CTCTGGGAACGGGTAAGCCTT 0.428000 BAG4 9530 broad.mit.edu 37 8 38034594 38034594 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:38034594C>T uc003xky.1 + 1 489 c.207C>T c.(205-207)GGC>GGT p.G69G LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Silent_p.G69G NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 69 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GCGGAGGAGGCGATGGCTACT 0.677000 ADAM9 8754 broad.mit.edu 37 8 38873652 38873652 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:38873652C>T uc003xmr.2 + 5 427 c.349C>T c.(349-351)CGG>TGG p.R117W ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 117 Extracellular (Potential). Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTGTCATTATCGGGGCTATGT 0.338000 MYST3 7994 broad.mit.edu 37 8 41794882 41794882 + Silent SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:41794882T>G uc010lxb.2 - 17 3788 c.3244A>C c.(3244-3246)AGA>CGA p.R1082R MYST3_uc010lxc.2_Silent_p.R1082R|MYST3_uc003xon.3_Silent_p.R1082R NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1082 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) AAGTATTCTCTAGGGAAAAGT 0.428000 AP3M2 10947 broad.mit.edu 37 8 42012282 42012282 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:42012282G>A uc003xop.2 + 3 368 c.77G>A c.(76-78)CGT>CAT p.R26H AP3M2_uc003xoo.2_Missense_Mutation_p.R26H|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.R26H NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 26 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GTGGTCAGCCGTTCTGTTTGT 0.453000 SOX17 64321 broad.mit.edu 37 8 55371735 55371735 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:55371735G>A uc003xsb.3 + 2 629 c.425G>A c.(424-426)CGC>CAC p.R142H NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 142 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CCGCGGCGGCGCAAGCAGGTG 0.741000 NSMAF 8439 broad.mit.edu 37 8 59510450 59510450 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:59510450G>T uc003xtt.2 - 20 1811 c.1597C>A c.(1597-1599)CTG>ATG p.L533M NSMAF_uc011lee.1_Missense_Mutation_p.L564M NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 533 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TCATAGGTCAGGGGATGAAAT 0.299000 TOX 9760 broad.mit.edu 37 8 59764296 59764296 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:59764296T>C uc003xtw.1 - 4 701 c.480A>G c.(478-480)CCA>CCG p.P160P NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 160 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GCTGGCCCCTTGGTCTCATGG 0.448000 SULF1 23213 broad.mit.edu 37 8 70488321 70488321 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:70488321G>A uc010lza.1 + 6 1006 c.289G>A c.(289-291)GGG>AGG p.G97R SULF1_uc003xyd.2_Missense_Mutation_p.G97R|SULF1_uc003xye.2_Missense_Mutation_p.G97R|SULF1_uc003xyf.2_Missense_Mutation_p.G97R|SULF1_uc003xyg.2_Missense_Mutation_p.G97R NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 97 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CATGCTCACCGGGAAGTATGT 0.517000 ZFHX4 79776 broad.mit.edu 37 8 77766597 77766597 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:77766597G>A uc003yav.2 + 10 7692 c.7305G>A c.(7303-7305)ACG>ACA p.T2435T ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2435 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTCCATGACGTCTCTCCAGA 0.458000 HNSCC(33;0.089) ZNF704 619279 broad.mit.edu 37 8 81553607 81553607 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:81553607G>A uc003yby.1 - 9 1465 c.1233C>T c.(1231-1233)CTC>CTT p.L411L NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 411 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) TCTCTCAGTCGAGGAACCTCT 0.602000 CA3 761 broad.mit.edu 37 8 86354335 86354335 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:86354335G>A uc003ydj.2 + 3 349 c.266G>A c.(265-267)CGA>CAA p.R89Q CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 89 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 GGACCCTACCGACTTCGCCAG 0.507000 PSKH2 85481 broad.mit.edu 37 8 87060713 87060713 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:87060713G>A uc011lfy.1 - 3 1136 c.1136C>T c.(1135-1137)TCG>TTG p.S379L NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 379 ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) AGACAGTGGCGATTCTACTAT 0.433000 PSKH2 85481 broad.mit.edu 37 8 87076599 87076599 + Silent SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:87076599G>T uc011lfy.1 - 2 447 c.447C>A c.(445-447)CTC>CTA p.L149L NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 149 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CCTGAGCAATGAGTCGATCAA 0.498000 RBM12B 389677 broad.mit.edu 37 8 94745759 94745759 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:94745759A>G uc003yfz.2 - 3 3073 c.2880T>C c.(2878-2880)AAT>AAC p.N960N NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 960 RRM 4. nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGCCTTGCTCATTATACTGTA 0.358000 YWHAZ 7534 broad.mit.edu 37 8 101960825 101960825 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:101960825A>G uc011lhe.1 - 2 470 c.293T>C c.(292-294)CTG>CCG p.L98P YWHAZ_uc003yjv.2_Missense_Mutation_p.L98P|YWHAZ_uc011lhf.1_Missense_Mutation_p.L98P|YWHAZ_uc003yjw.2_Missense_Mutation_p.L98P|YWHAZ_uc010mbq.2_Missense_Mutation_p.L21P|YWHAZ_uc011lhg.1_Intron|YWHAZ_uc010mbr.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjx.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjy.2_Missense_Mutation_p.L98P NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 98 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GATTCTCACCAGTACATCATT 0.378000 FZD6 8323 broad.mit.edu 37 8 104342230 104342230 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:104342230G>T uc003ylh.2 + 6 2173 c.1889G>T c.(1888-1890)GGG>GTG p.G630V FZD6_uc003ylj.2_Missense_Mutation_p.G630V|FZD6_uc011lhn.1_Missense_Mutation_p.G596V|FZD6_uc011lho.1_Missense_Mutation_p.G325V|FZD6_uc011lhp.1_Missense_Mutation_p.G575V NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 630 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AGACTCTCTGGGGAACAGGTC 0.517000 DPYS 1807 broad.mit.edu 37 8 105405032 105405032 + Nonsense_Mutation SNP G G A rs61758444 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:105405032G>A uc003yly.3 - 8 1552 c.1423C>T c.(1423-1425)CGA>TGA p.R475* DPYS_uc010mcf.1_Nonsense_Mutation_p.R45* NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 475 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGCTTTATTCGTTTGTAAATA 0.473000 PKHD1L1 93035 broad.mit.edu 37 8 110477051 110477051 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:110477051A>G uc003yne.2 + 49 8094 c.7990A>G c.(7990-7992)AAT>GAT p.N2664D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2664 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) TGAATGGGTCAATGGAGGTGC 0.453000 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113277738 113277738 + Missense_Mutation SNP T T A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:113277738T>A uc003ynu.2 - 60 9749 c.9590A>T c.(9589-9591)TAC>TTC p.Y3197F CSMD3_uc003yns.2_Missense_Mutation_p.Y2399F|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3157F|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3028F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3197 Extracellular (Potential).|Sushi 24. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGGCACATGTAAGAAACATT 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113301691 113301691 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:113301691A>G uc003ynu.2 - 57 9210 c.9051T>C c.(9049-9051)GTT>GTC p.V3017V CSMD3_uc003yns.2_Silent_p.V2219V|CSMD3_uc003ynt.2_Silent_p.V2977V|CSMD3_uc011lhx.1_Silent_p.V2848V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3017 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGAATAGTGAACAGTAGACC 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113694730 113694730 + Missense_Mutation SNP A A T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:113694730A>T uc003ynu.2 - 16 2777 c.2618T>A c.(2617-2619)ATT>AAT p.I873N CSMD3_uc003yns.2_Missense_Mutation_p.I145N|CSMD3_uc003ynt.2_Missense_Mutation_p.I833N|CSMD3_uc011lhx.1_Missense_Mutation_p.I769N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 873 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AATACATGTAATTGTTTCTGT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TG 7038 broad.mit.edu 37 8 134034244 134034244 + Silent SNP C C T rs149348416 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:134034244C>T uc003ytw.2 + 40 6926 c.6885C>T c.(6883-6885)AAC>AAT p.N2295N TG_uc010mdw.2_Silent_p.N1054N|TG_uc011ljb.1_Silent_p.N664N|TG_uc011ljc.1_Silent_p.N428N NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2295 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGCCCCTAACGCGTCTGTGC 0.557000 COL22A1 169044 broad.mit.edu 37 8 139790595 139790595 + Splice_Site SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:139790595C>T uc003yvd.2 - 15 2205 c.1758_splice c.e15+1 p.P586_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTTCACTTACAGGAGCTCCG 0.527000 HNSCC(7;0.00092) SLC45A4 57210 broad.mit.edu 37 8 142222373 142222373 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:142222373C>T uc003ywd.1 - 7 2379 c.2071G>A c.(2071-2073)GGG>AGG p.G691R SLC45A4_uc003ywc.1_Missense_Mutation_p.G691R|SLC45A4_uc010meq.1_Missense_Mutation_p.G689R NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 742 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TCGCTGTTCCCACCGGCCCTG 0.637000 SLC45A4 57210 broad.mit.edu 37 8 142228485 142228485 + Silent SNP C C T rs150882337 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:142228485C>T uc003ywd.1 - 4 1409 c.1101G>A c.(1099-1101)GCG>GCA p.A367A SLC45A4_uc003ywc.1_Silent_p.A367A|SLC45A4_uc010meq.1_Silent_p.A365A NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 418 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GCCTGCGGAACGCGTGCCGCC 0.682000 LY6E 4061 broad.mit.edu 37 8 144102851 144102851 + Splice_Site SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144102851G>A uc003yxn.2 + 3 326 c.172_splice c.e3+1 p.G58_splice LY6E_uc003yxm.2_Splice_Site_p.G58_splice|LY6E_uc003yxo.2_Splice_Site NM_001127213 NP_001120685 Q16553 LY6E_HUMAN lymphocyte antigen 6 complex, locus E precursor cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane 0 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCCGGCATTGGTGAGTGCCAG 0.612000 RHPN1 114822 broad.mit.edu 37 8 144464012 144464012 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144464012A>G uc003yyb.2 + 14 1804 c.1671A>G c.(1669-1671)TCA>TCG p.S557S NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 582 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) ACATTGTGTCAGTGAATGGGC 0.662000 PLEC 5339 broad.mit.edu 37 8 144991489 144991489 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144991489G>A uc003zaf.1 - 32 13081 c.12911C>T c.(12910-12912)ACG>ATG p.T4304M PLEC_uc003zab.1_Missense_Mutation_p.T4167M|PLEC_uc003zac.1_Missense_Mutation_p.T4171M|PLEC_uc003zad.2_Missense_Mutation_p.T4167M|PLEC_uc003zae.1_Missense_Mutation_p.T4135M|PLEC_uc003zag.1_Missense_Mutation_p.T4145M|PLEC_uc003zah.2_Missense_Mutation_p.T4153M|PLEC_uc003zaj.2_Missense_Mutation_p.T4194M NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4304 Globular 2.|Plectin 27. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTCCAGGTACGTCTGGTGGTC 0.637000 PLEC 5339 broad.mit.edu 37 8 144995573 144995573 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144995573G>A uc003zaf.1 - 32 8997 c.8827C>T c.(8827-8829)CTG>TTG p.L2943L PLEC_uc003zab.1_Silent_p.L2806L|PLEC_uc003zac.1_Silent_p.L2810L|PLEC_uc003zad.2_Silent_p.L2806L|PLEC_uc003zae.1_Silent_p.L2774L|PLEC_uc003zag.1_Silent_p.L2784L|PLEC_uc003zah.2_Silent_p.L2792L|PLEC_uc003zaj.2_Silent_p.L2833L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2943 Plectin 4.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGGGCCTCCAGCAGGCGGATG 0.667000 PLEC 5339 broad.mit.edu 37 8 144996166 144996166 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144996166G>A uc003zaf.1 - 32 8404 c.8234C>T c.(8233-8235)GCG>GTG p.A2745V PLEC_uc003zab.1_Missense_Mutation_p.A2608V|PLEC_uc003zac.1_Missense_Mutation_p.A2612V|PLEC_uc003zad.2_Missense_Mutation_p.A2608V|PLEC_uc003zae.1_Missense_Mutation_p.A2576V|PLEC_uc003zag.1_Missense_Mutation_p.A2586V|PLEC_uc003zah.2_Missense_Mutation_p.A2594V|PLEC_uc003zaj.2_Missense_Mutation_p.A2635V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2745 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GTGCGCCAGCGCGGCCCGGTG 0.587000 PLEC 5339 broad.mit.edu 37 8 144997128 144997128 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144997128C>T uc003zaf.1 - 31 7550 c.7380G>A c.(7378-7380)ACG>ACA p.T2460T PLEC_uc003zab.1_Silent_p.T2323T|PLEC_uc003zac.1_Silent_p.T2327T|PLEC_uc003zad.2_Silent_p.T2323T|PLEC_uc003zae.1_Silent_p.T2291T|PLEC_uc003zag.1_Silent_p.T2301T|PLEC_uc003zah.2_Silent_p.T2309T|PLEC_uc003zaj.2_Silent_p.T2350T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2460 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTTGAGTCGCGTGGCCTCCT 0.667000 SPATC1 375686 broad.mit.edu 37 8 145094872 145094872 + Missense_Mutation SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145094872A>C uc011lkw.1 + 2 376 c.274A>C c.(274-276)ATG>CTG p.M92L SPATC1_uc011lkx.1_Missense_Mutation_p.M92L NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 92 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) AGTGGGGATCATGGCCTTGGC 0.637000 GPR172A 79581 broad.mit.edu 37 8 145583901 145583901 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145583901T>C uc003zcc.1 + 3 906 c.749T>C c.(748-750)CTG>CCG p.L250P FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L250P|GPR172A_uc003zce.1_Missense_Mutation_p.L250P|GPR172A_uc010mfy.1_Missense_Mutation_p.L250P|GPR172A_uc003zcf.1_Missense_Mutation_p.L250P|GPR172A_uc011llc.1_Missense_Mutation_p.L162P NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 250 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TCCTCACCACTGCAAGAGCCA 0.627000 NFKBIL2 4796 broad.mit.edu 37 8 145657756 145657756 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145657756C>A uc011llg.1 - 23 3662 c.3647G>T c.(3646-3648)GGC>GTC p.G1216V uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1216 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CAGGAGGGTGCCGGCGGGCAG 0.662000 RECQL4 9401 broad.mit.edu 37 8 145742065 145742065 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145742065C>T uc003zdj.2 - 5 470 c.438G>A c.(436-438)GGG>GGA p.G146G LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 146 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGGGGACAGGCCCTGTACCTG 0.637000 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome LRRC24 441381 broad.mit.edu 37 8 145748716 145748716 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145748716A>G uc003zdm.2 - 5 817 c.685T>C c.(685-687)TCC>CCC p.S229P LRRC24_uc003zdn.2_Missense_Mutation_p.S226P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA NM_001024678 NP_001019849 Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 precursor 229 LRRCT. integral to membrane 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGTCCCTGGAGGTGAGCAGC 0.647000 ZNF7 7553 broad.mit.edu 37 8 146066746 146066746 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:146066746C>T uc003zeg.3 + 5 391 c.254C>T c.(253-255)ACG>ATG p.T85M ZNF7_uc010mge.2_Missense_Mutation_p.T96M|ZNF7_uc011lln.1_Translation_Start_Site|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Translation_Start_Site|COMMD5_uc003zel.1_RNA NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 85 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TCAGATTCTACGATTAGGACT 0.488000 C8orf33 65265 broad.mit.edu 37 8 146278738 146278738 + Silent SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:146278738C>A uc003zfc.3 + 4 513 c.459C>A c.(457-459)CCC>CCA p.P153P C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 153 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) CGCCCTTGCCCCGGAAGAGGC 0.542000 FOXD4 2298 broad.mit.edu 37 9 117504 117504 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:117504T>C uc003zfz.2 - 1 914 c.616A>G c.(616-618)ACC>GCC p.T206A NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 206 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCTCCCGGGGTCGGTTGGTGG 0.692000 PPAPDC2 403313 broad.mit.edu 37 9 4662738 4662738 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:4662738G>A uc003zin.2 + 1 441 c.363G>A c.(361-363)GCG>GCA p.A121A C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron NM_203453 NP_982278 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain 121 integral to membrane hydrolase activity 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) GGGTGTGCGCGGGAGAGAGCT 0.657000 OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIAA2026 158358 broad.mit.edu 37 9 5920290 5920290 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:5920290T>G uc003zjq.3 - 8 5922 c.5706A>C c.(5704-5706)CAA>CAC p.Q1902H KIAA2026_uc010mht.2_Missense_Mutation_p.Q1077H NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1902 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTCCAAGACCTTGTGGTGGAA 0.423000 PLIN2 123 broad.mit.edu 37 9 19116373 19116373 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:19116373G>A uc003zno.2 - 8 1366 c.1187C>T c.(1186-1188)ACG>ATG p.T396M PLIN2_uc011lna.1_Missense_Mutation_p.T368M NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 396 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle p.T396K(1) ovary(2) 2 GTTGAGGGGCGTGTTGTTAAC 0.488000 TEK 7010 broad.mit.edu 37 9 27228229 27228229 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:27228229C>T uc003zqi.3 + 22 3668 c.3226C>T c.(3226-3228)CGG>TGG p.R1076W TEK_uc011lno.1_Missense_Mutation_p.R1033W|TEK_uc011lnp.1_Missense_Mutation_p.R928W NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1076 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACAATGCTGGCGGGAGAAGCC 0.433000 NOL6 65083 broad.mit.edu 37 9 33465880 33465880 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:33465880G>A uc003zsz.2 - 19 2481 c.2380C>T c.(2380-2382)CGG>TGG p.R794W SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R791W|NOL6_uc011lob.1_Missense_Mutation_p.R742W|NOL6_uc003ztb.1_Missense_Mutation_p.R794W NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 794 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ACGCGAATCCGAAACACAAAT 0.582000 CNTFR 1271 broad.mit.edu 37 9 34552676 34552676 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:34552676A>G uc003zup.1 - 8 1226 c.945T>C c.(943-945)GCT>GCC p.A315A CNTFR_uc003zuq.1_Silent_p.A315A NM_147164 NP_671693 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 315 nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding ovary(3)|central_nervous_system(1)|skin(1) 5 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) GCTCACCCGCAGCCTGGGCCT 0.642000 ARID3C 138715 broad.mit.edu 37 9 34623868 34623868 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:34623868G>A uc011lon.1 - 3 568 c.568C>T c.(568-570)CGC>TGC p.R190C NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 190 ARID. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CACTGGGTGCGTAGAGTGAAG 0.721000 UNC13B 10497 broad.mit.edu 37 9 35399003 35399003 + Missense_Mutation SNP C C T rs141208447 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:35399003C>T uc003zwq.2 + 32 4091 c.3799C>T c.(3799-3801)CGG>TGG p.R1267W UNC13B_uc003zwr.2_Missense_Mutation_p.R1267W NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1267 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TAGCGTACTCCGGCCTCTCAT 0.587000 TESK1 7016 broad.mit.edu 37 9 35605979 35605979 + Splice_Site SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:35605979A>G uc003zxa.2 + 2 556 c.220_splice c.e2-2 p.V74_splice TESK1_uc003zwz.1_Splice_Site|TESK1_uc010mks.2_Splice_Site NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTGCCCCCAGGTTCGGCAC 0.662000 RECK 8434 broad.mit.edu 37 9 36118778 36118778 + Missense_Mutation SNP G G A rs141528795 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:36118778G>A uc003zyv.2 + 18 2364 c.2278G>A c.(2278-2280)GTA>ATA p.V760I RECK_uc003zyw.2_Missense_Mutation_p.V632I|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 760 Kazal-like 3. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AACCGAGCCCGTATGTGGGCA 0.537000 ZBTB5 9925 broad.mit.edu 37 9 37440993 37440993 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:37440993C>A uc003zzx.2 - 2 1756 c.1556G>T c.(1555-1557)AGG>ATG p.R519M NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TATCATTACCCTGGAGAAGGA 0.542000 TLE4 7091 broad.mit.edu 37 9 82323650 82323650 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:82323650C>T uc004ald.2 + 14 2136 c.1287C>T c.(1285-1287)AGC>AGT p.S429S TLE4_uc004alc.2_Silent_p.S404S|TLE4_uc010mpr.2_Silent_p.S283S|TLE4_uc004ale.2_Silent_p.S41S|TLE4_uc011lsq.1_Silent_p.S372S|TLE4_uc010mps.2_Silent_p.S328S|TLE4_uc004alf.2_Silent_p.S343S NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CTCAGATGAGCGCAgctgctg 0.463000 DAPK1 1612 broad.mit.edu 37 9 90254270 90254270 + Missense_Mutation SNP C C A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:90254270C>A uc004apc.2 + 5 563 c.425C>A c.(424-426)CCT>CAT p.P142H DAPK1_uc004ape.2_Missense_Mutation_p.P142H|DAPK1_uc004apd.2_Missense_Mutation_p.P142H|DAPK1_uc011ltg.1_Missense_Mutation_p.P142H|DAPK1_uc011lth.1_Translation_Start_Site NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 142 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TTTTTCAAGCCTGAGAACATA 0.343000 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of KIAA1529 57653 broad.mit.edu 37 9 100070318 100070318 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:100070318C>T uc011lut.1 + 14 1295 c.522C>T c.(520-522)CCC>CCT p.P174P KIAA1529_uc004axe.1_Silent_p.P174P|KIAA1529_uc004axg.1_Silent_p.P35P|KIAA1529_uc011lus.1_Silent_p.P35P|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Silent_p.P35P|KIAA1529_uc011luv.1_Silent_p.P35P NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GACGGCTTCCCGGCAGGGGCA 0.587000 KIAA1529 57653 broad.mit.edu 37 9 100092974 100092974 + Missense_Mutation SNP G G T rs34176734 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:100092974G>T uc011lut.1 + 30 3521 c.2748G>T c.(2746-2748)GAG>GAT p.E916D KIAA1529_uc004axe.1_Missense_Mutation_p.E916D|KIAA1529_uc004axg.1_Missense_Mutation_p.E777D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E101D|KIAA1529_uc011lus.1_Missense_Mutation_p.E734D|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E777D|KIAA1529_uc011luv.1_Missense_Mutation_p.E774D NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) aggaagaggaggaggaggaga 0.274000 TDRD7 23424 broad.mit.edu 37 9 100227190 100227190 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:100227190T>C uc004axj.2 + 8 1734 c.1509T>C c.(1507-1509)AGT>AGC p.S503S TDRD7_uc011lux.1_Silent_p.S429S NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 503 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) AATATTACAGTAAGAATCCTA 0.453000 TMEM38B 55151 broad.mit.edu 37 9 108483839 108483839 + Silent SNP G G A rs141978983 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:108483839G>A uc004bcu.1 + 3 408 c.291G>A c.(289-291)CCG>CCA p.P97P TMEM38B_uc010mtn.1_Intron NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 97 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 TTTTTTGCCCGCATGACCTAG 0.353000 ZNF462 58499 broad.mit.edu 37 9 109690562 109690562 + Nonsense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:109690562C>T uc004bcz.2 + 3 4658 c.4369C>T c.(4369-4371)CAG>TAG p.Q1457* ZNF462_uc010mto.2_Nonsense_Mutation_p.Q1305*|ZNF462_uc004bda.2_Nonsense_Mutation_p.Q1305* NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1457 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GAAAAGCCTGCAGCTAGCTTC 0.532000 MUSK 4593 broad.mit.edu 37 9 113547894 113547894 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:113547894G>A uc004bey.2 + 12 1772 c.1674G>A c.(1672-1674)CCG>CCA p.P558P MUSK_uc004bez.1_Silent_p.P138P NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 558 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 AGAGGATGCCGCTCCTTCTGA 0.498000 GAPVD1 26130 broad.mit.edu 37 9 128099537 128099537 + Silent SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:128099537T>C uc010mwx.2 + 17 2870 c.2544T>C c.(2542-2544)GCT>GCC p.A848A GAPVD1_uc011lzs.1_Silent_p.A848A|GAPVD1_uc004bpp.2_Silent_p.A875A|GAPVD1_uc004bpq.2_Silent_p.A848A|GAPVD1_uc004bpr.2_Silent_p.A827A|GAPVD1_uc004bps.2_Silent_p.A848A|GAPVD1_uc010mwy.1_Silent_p.A681A NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 848 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TTCACTATGCTAGGCCATCGC 0.313000 LAMC3 10319 broad.mit.edu 37 9 133928328 133928328 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:133928328G>A uc004caa.1 + 11 2013 c.1915G>A c.(1915-1917)GTC>ATC p.V639I NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 639 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCGCCTCCGCGTCAGTCCCGG 0.682000 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C9orf98 158067 broad.mit.edu 37 9 135750575 135750575 + Missense_Mutation SNP C C G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:135750575C>G uc004cbu.1 - 2 652 c.96G>C c.(94-96)GAG>GAC p.E32D C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Intron NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 32 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) TCAGGAGTTGCTCCAGCATGT 0.547000 RALGDS 5900 broad.mit.edu 37 9 136037753 136037753 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:136037753G>A uc011mcw.1 - 2 328 c.47C>T c.(46-48)GCG>GTG p.A16V GBGT1_uc004ccx.2_5'UTR|GBGT1_uc010nab.2_Missense_Mutation_p.A16V|GBGT1_uc011mcx.1_Missense_Mutation_p.A16V|GBGT1_uc004ccw.2_Missense_Mutation_p.A16V|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.A16V NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:Variant_position_missing_in_Q12967_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GCTTGTGCCCGCCAACAGGCA 0.488000 T CIITA PMBL|Hodgkin Lymphona| SNAPC4 6621 broad.mit.edu 37 9 139272401 139272401 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:139272401C>T uc004chh.2 - 21 3887 c.3878G>A c.(3877-3879)CGT>CAT p.R1293H NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 1293 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AAGAGGCACACGCACCCCCCG 0.706000 NOTCH1 4851 broad.mit.edu 37 9 139418408 139418408 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:139418408G>A uc004chz.2 - 3 164 c.164C>T c.(163-165)CCG>CTG p.P55L NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 55 Extracellular (Potential).|EGF-like 1. 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) CTGGCATCGCGGGCCCACGAA 0.682000 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) ABCA2 20 broad.mit.edu 37 9 139908775 139908775 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:139908775C>T uc011mem.1 - 26 4230 c.4082G>A c.(4081-4083)CGG>CAG p.R1361Q ABCA2_uc011mel.1_Missense_Mutation_p.R1362Q|ABCA2_uc004ckl.1_Missense_Mutation_p.R1292Q|ABCA2_uc004ckm.1_Missense_Mutation_p.R1392Q|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1361 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTCCGAGCACCGGGCCAGATT 0.682000 ENTPD2 954 broad.mit.edu 37 9 139943197 139943197 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:139943197A>G uc004ckw.1 - 9 1456 c.1400T>C c.(1399-1401)CTC>CCC p.L467P NPDC1_uc004ckr.2_5'Flank|NPDC1_uc004ckt.2_5'Flank|NPDC1_uc004cku.2_5'Flank|ENTPD2_uc004ckv.1_Missense_Mutation_p.L156P|ENTPD2_uc004ckx.1_Missense_Mutation_p.L444P NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 467 Helical; (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GAGCAGCAGGAGGACGACCCA 0.682000 TPRN 286262 broad.mit.edu 37 9 140086686 140086686 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:140086686A>G uc004clt.2 - 3 1915 c.1915T>C c.(1915-1917)TGG>CGG p.W639R TPRN_uc004clu.2_Intron NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment sensory perception of sound stereocilium 0 GACTCCCCCCAGCGCTCCACT 0.667000 NOXA1 10811 broad.mit.edu 37 9 140325259 140325259 + Silent SNP C C T rs142901709 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:140325259C>T uc004cmv.2 + 6 771 c.636C>T c.(634-636)GAC>GAT p.D212D C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.D212D|NOXA1_uc010nch.2_Intron NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 212 Mediates interaction with RAC1. regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) CCATCCCCGACGACCAGGGCT 0.697000 CSF2RA 1438 broad.mit.edu 37 X 1409308 1409308 + Silent SNP A A G rs144461474 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:1409308A>G uc010nct.2 + 8 874 c.552A>G c.(550-552)TCA>TCG p.S184S CSF2RA_uc011mhb.1_Silent_p.S184S|CSF2RA_uc004cpq.2_Silent_p.S184S|CSF2RA_uc004cpn.2_Silent_p.S184S|CSF2RA_uc004cpo.2_Silent_p.S184S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.S51S|CSF2RA_uc004cpp.2_Silent_p.S184S|CSF2RA_uc010ncv.2_Silent_p.S184S|CSF2RA_uc004cpr.2_Silent_p.S184S NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 184 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 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) Sargramostim(DB00020) ATAACCTGTCAGGATTAACGT 0.398000 ZBED1 9189 broad.mit.edu 37 X 2406990 2406990 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:2406990A>G uc004cqg.2 - 2 1972 c.1771T>C c.(1771-1773)TGG>CGG p.W591R DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.W591R NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 591 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGTCTGACCACCACTTGAGG 0.637000 ZBED1 9189 broad.mit.edu 37 X 2408297 2408297 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:2408297G>A uc004cqg.2 - 2 665 c.464C>T c.(463-465)ACG>ATG p.T155M DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T155M NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 155 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGTCGGCCGTCTTCAGCAG 0.647000 PHEX 5251 broad.mit.edu 37 X 22095682 22095682 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:22095682C>T uc004dah.2 + 5 728 c.525C>T c.(523-525)GGC>GGT p.G175G PHEX_uc011mjr.1_Silent_p.G175G|PHEX_uc011mjs.1_Silent_p.G78G NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 175 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CTAATATTGGCCCTGAAGGGG 0.483000 PHEX 5251 broad.mit.edu 37 X 22129611 22129611 + Missense_Mutation SNP G G T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:22129611G>T uc004dah.2 + 10 1309 c.1106G>T c.(1105-1107)AGA>ATA p.R369I PHEX_uc011mjr.1_Missense_Mutation_p.R369I|PHEX_uc011mjs.1_Missense_Mutation_p.R272I NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 369 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TTGGTGTGGAGAATGGTTTAT 0.403000 PTCHD1 139411 broad.mit.edu 37 X 23411237 23411237 + Silent SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:23411237C>T uc004dal.3 + 3 1610 c.1602C>T c.(1600-1602)ACC>ACT p.T534T NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 534 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 TTGTAGCAACCGCGACACAAA 0.403000 MED14 9282 broad.mit.edu 37 X 40542144 40542144 + Missense_Mutation SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:40542144A>G uc004dex.3 - 17 2302 c.2162T>C c.(2161-2163)GTA>GCA p.V721A NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 721 Interaction with SREBF1. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 TAACTCTGCTACCCAAGTGCG 0.428000 NYX 60506 broad.mit.edu 37 X 41333037 41333037 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:41333037C>T uc004dfh.2 + 2 761 c.331C>T c.(331-333)CGC>TGC p.R111C NYX_uc011mku.1_Missense_Mutation_p.R106C NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 111 LRR 3. response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 GGGCCTGCCGCGCCTGGCTGA 0.726000 EFHC2 80258 broad.mit.edu 37 X 44035573 44035573 + Silent SNP A A C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:44035573A>C uc004dgb.3 - 14 2097 c.2007T>G c.(2005-2007)CCT>CCG p.P669P NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 669 calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 CATCACTCAAAGGTAATCTGG 0.363000 CXorf36 79742 broad.mit.edu 37 X 45051247 45051247 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:45051247G>A uc004dgg.2 - 2 322 c.247C>T c.(247-249)CTG>TTG p.L83L CXorf36_uc004dgi.3_Silent_p.L83L NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 83 extracellular region lung(1) 1 TGGGAAGCCAGCCAGTTGTCA 0.517000 HDAC6 10013 broad.mit.edu 37 X 48673431 48673431 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:48673431A>G uc011mmi.1 + 14 1217 c.1122A>G c.(1120-1122)GCA>GCG p.A374A HDAC6_uc004dks.1_Silent_p.A374A|HDAC6_uc010nig.1_Silent_p.A222A|HDAC6_uc004dkt.1_Silent_p.A374A|HDAC6_uc011mmk.1_Silent_p.A355A|HDAC6_uc004dkv.1_5'UTR|HDAC6_uc004dkw.1_5'UTR NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 374 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) TGGGTCTGGCAGGAGGCAAGC 0.552000 KCND1 3750 broad.mit.edu 37 X 48826286 48826286 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:48826286G>A uc004dlx.1 - 1 1966 c.393C>T c.(391-393)TGC>TGT p.C131C KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 131 Cytoplasmic (Potential). Zinc (By similarity). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 CTTCAAGGCAGCAGTCACCGA 0.647000 FOXP3 50943 broad.mit.edu 37 X 49107881 49107881 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:49107881C>T uc004dnf.3 - 12 1398 c.1210G>A c.(1210-1212)GCT>ACT p.A404T FOXP3_uc011mnb.1_Missense_Mutation_p.A427T|FOXP3_uc011mnc.1_Missense_Mutation_p.A377T|FOXP3_uc004dne.3_Missense_Mutation_p.A369T|FOXP3_uc010niq.1_Missense_Mutation_p.A429T NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN forkhead box P3 isoform a 404 Fork-head. B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding 0 Ovarian(276;0.236) GTCCACACAGCCCCCTTCTCG 0.622000 SMC1A 8243 broad.mit.edu 37 X 53410093 53410093 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:53410093G>A uc004dsg.2 - 20 3124 c.3055C>T c.(3055-3057)CGT>TGT p.R1019C SMC1A_uc011moe.1_Missense_Mutation_p.R997C NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 1019 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 GCGGCAATACGCTGAAGCACA 0.532000 ITIH5L 347365 broad.mit.edu 37 X 54776525 54776525 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:54776525C>T uc004dtj.2 - 13 3775 c.3745G>A c.(3745-3747)GCA>ACA p.A1249T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1249 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CGGATGTCTGCGTGCTGGAAC 0.587000 STARD8 9754 broad.mit.edu 37 X 67940212 67940212 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:67940212C>T uc004dxa.2 + 7 2128 c.1756C>T c.(1756-1758)CCA>TCA p.P586S STARD8_uc004dxb.2_Missense_Mutation_p.P666S|STARD8_uc004dxc.3_Missense_Mutation_p.P586S NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 586 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CCAGCCACTGCCACAGAGCAT 0.642000 DGAT2L6 347516 broad.mit.edu 37 X 69420151 69420151 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:69420151C>T uc004dxx.1 + 4 411 c.314C>T c.(313-315)GCC>GTC p.A105V NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 105 Helical; (Potential). lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 TACATCATTGCCAATCACCCC 0.463000 TGIF2LX 90316 broad.mit.edu 37 X 89177504 89177504 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:89177504G>A uc004efe.2 + 2 469 c.420G>A c.(418-420)GCG>GCA p.A140A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 140 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCACCGAGGCGTCTGTGCCGG 0.582000 SYTL4 94121 broad.mit.edu 37 X 99936233 99936233 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:99936233G>A uc004egd.3 - 16 1905 c.1549C>T c.(1549-1551)CGG>TGG p.R517W SYTL4_uc004egc.2_5'Flank|SYTL4_uc010nnb.2_Missense_Mutation_p.R189W|SYTL4_uc010nnc.2_Missense_Mutation_p.R517W|SYTL4_uc004ege.3_Missense_Mutation_p.R517W|SYTL4_uc004egf.3_Missense_Mutation_p.R517W NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 517 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCTTTTTCCGGTCACCTCCA 0.517000 ARMCX1 51309 broad.mit.edu 37 X 100808097 100808097 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:100808097G>A uc004ehv.2 + 4 555 c.184G>A c.(184-186)GCT>ACT p.A62T ARMCX1_uc004ehw.2_Missense_Mutation_p.A62T NM_016608 NP_057692 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 62 integral to membrane binding ovary(3)|pancreas(1) 4 TAAAACTAACGCTGGGGCAGG 0.532000 BEX2 84707 broad.mit.edu 37 X 102564886 102564886 + Nonsense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:102564886G>A uc004ekb.2 - 3 258 c.19C>T c.(19-21)CGA>TGA p.R7* BEX2_uc004eka.2_Nonsense_Mutation_p.R36* NM_032621 NP_116010 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 7 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus ovary(1) 1 TTTAACGCTCGTTCCTCTTTG 0.468000 COL4A6 1288 broad.mit.edu 37 X 107406166 107406166 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:107406166C>T uc004enw.3 - 41 4278 c.4175G>A c.(4174-4176)GGC>GAC p.G1392D COL4A6_uc004env.3_Missense_Mutation_p.G1391D|COL4A6_uc011msn.1_Missense_Mutation_p.G1367D|COL4A6_uc010npk.2_Missense_Mutation_p.G1334D|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_5'UTR NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1392 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCCAGTGAGGCCAGGGATGCC 0.572000 Alport_syndrome_with_Diffuse_Leiomyomatosis CHRDL1 91851 broad.mit.edu 37 X 109937511 109937511 + Missense_Mutation SNP C C T TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:109937511C>T uc004eou.3 - 8 1007 c.658G>A c.(658-660)GCT>ACT p.A220T CHRDL1_uc004eov.2_Missense_Mutation_p.A214T|CHRDL1_uc004eow.2_Missense_Mutation_p.A219T|CHRDL1_uc010nps.2_Missense_Mutation_p.A219T|CHRDL1_uc004eot.2_Missense_Mutation_p.A140T|CHRDL1_uc011mss.1_Missense_Mutation_p.A134T NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 213 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 AGACCTCCAGCCTGTCGGCTT 0.478000 AMOT 154796 broad.mit.edu 37 X 112033859 112033859 + Missense_Mutation SNP T T G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:112033859T>G uc004epr.2 - 7 2078 c.2078A>C c.(2077-2079)CAT>CCT p.H693P AMOT_uc004eps.2_Missense_Mutation_p.H284P NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 693 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 CAGAGCAAAATGTCTCATCAC 0.478000 DOCK11 139818 broad.mit.edu 37 X 117764371 117764371 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:117764371A>G uc004eqp.2 + 35 3867 c.3804A>G c.(3802-3804)GTA>GTG p.V1268V DOCK11_uc004eqq.2_Silent_p.V1047V NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1268 blood coagulation cytosol GTP binding ovary(3) 3 GGAGTAGTGTATCCCAGTATA 0.393000 SLC25A14 9016 broad.mit.edu 37 X 129505599 129505599 + Missense_Mutation SNP T T C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:129505599T>C uc004evn.1 + 10 1130 c.917T>C c.(916-918)CTT>CCT p.L306P SLC25A14_uc004evo.1_Missense_Mutation_p.L127P|SLC25A14_uc004evp.1_Missense_Mutation_p.L306P|SLC25A14_uc004evq.1_Missense_Mutation_p.L303P|SLC25A14_uc004evr.1_Missense_Mutation_p.L334P NM_003951 NP_003942 O95258 UCP5_HUMAN solute carrier family 25, member 14 isoform 306 Helical; Name=6; (Potential).|Solcar 3. aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding ovary(1) 1 TGGCTTCGGCTTGGACCCTGG 0.398000 SAGE1 55511 broad.mit.edu 37 X 134995056 134995056 + Silent SNP A A G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:134995056A>G uc004ezh.2 + 20 2882 c.2715A>G c.(2713-2715)TAA>TAG p.*905* SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.1_Silent_p.*529* NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 905 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAAAAAGATAATTGTGTTAGT 0.383000 CXorf40B 541578 broad.mit.edu 37 X 149102068 149102068 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:149102068G>A uc004fdy.2 - 4 541 c.25C>T c.(25-27)CGG>TGG p.R9W CXorf40B_uc011mxs.1_RNA NM_001013845 NP_001013867 Q96DE9 CX04B_HUMAN hypothetical protein LOC541578 9 0 Acute lymphoblastic leukemia(192;6.56e-05) TAAGGCTGCCGGAAGGAGAGG 0.597000 VMA21 203547 broad.mit.edu 37 X 150573447 150573447 + Missense_Mutation SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:150573447G>A uc004feu.2 + 3 299 c.223G>A c.(223-225)GCC>ACC p.A75T NM_001017980 NP_001017980 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog 75 Helical; (Potential). vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome 0 TGCAGTGGTCGCCGTCCATGT 0.458000 HCFC1 3054 broad.mit.edu 37 X 153219914 153219914 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:153219914G>A uc004fjp.2 - 17 4464 c.3936C>T c.(3934-3936)AGC>AGT p.S1312S NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1312 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCTCTGGGCGCTGCCTGCAT 0.672000 FLNA 2316 broad.mit.edu 37 X 153594462 153594462 + Silent SNP G G A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:153594462G>A uc004fkk.2 - 9 1608 c.1359C>T c.(1357-1359)GTC>GTT p.V453V FLNA_uc010nuu.1_Silent_p.V453V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 453 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCACGGTGTGGACGCCCTCCA 0.667000 PLXNA3 55558 broad.mit.edu 37 X 153689684 153689684 + Silent SNP C C T rs149751983 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:153689684C>T uc004flm.2 + 3 1013 c.840C>T c.(838-840)ATC>ATT p.I280I NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 280 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATTCCCCATCGGCTGCTCCT 0.637000 ACP2 53 broad.mit.edu 37 11 47266285 47266285 + Splice_Site DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:47266285delC uc001nei.2 - 7 889 c.772_splice c.e7+1 p.G258_splice ACP2_uc010rhe.1_Splice_Site_p.G230_splice|ACP2_uc009ylj.2_Splice_Site_p.G186_splice|ACP2_uc010rhf.1_Splice_Site_p.G226_splice|ACP2_uc010rhg.1_Splice_Site_p.G195_splice|ACP2_uc010rhh.1_Splice_Site_p.G71_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 TTGTCACTCACCCCCCTGAAG 0.562 EPPK1 83481 broad.mit.edu 37 8 144940074 144940081 + Splice_Site DEL AAAAAAAC AAAAAAAC - rs6558397 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144940074_144940081delAAAAAAAC uc003zaa.1 - 3 15358 c.15345_splice c.e3-1 NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 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) aatgacaaaaaaaaaaacaaaaaaaaaa 0.351 AKNAD1 254268 broad.mit.edu 37 1 109369927 109369927 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:109369926_109369926TA>T uc001dwa.3 - 11 2108 c.1839_splice c.e11-1 p.W613_splice AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 613 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTTTGCTTCCTAAAAAAAGGT 0.378 CEBPZ 10153 broad.mit.edu 37 2 37430154 37430154 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:37430153_37430153TA>T uc002rpz.3 - 14 2915 c.2885_splice c.e14-1 p.G962_splice LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR NM_005760 NP_005751 Q03701 CEBPZ_HUMAN Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA. 962 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding p.?(1) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTCTTGGCCCTAAAAAAAATT 0.269 C2orf42 54980 broad.mit.edu 37 2 70406777 70406777 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:70406776_70406776TA>T uc002sgh.3 - 4 1152 c.824_splice c.e4-1 p.G275_splice NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 275 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CTTTAAGACCTAAAAAAAAGA 0.353 TRANK1 9881 broad.mit.edu 37 3 36876253 36876253 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:36876252_36876252CT>C uc003cgj.3 - 20 5779 c.5531_splice c.e20+1 p.K1844_splice NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1844 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAACCACCTACTTTTCCACTG 0.478 GPR149 344758 broad.mit.edu 37 3 154145305 154145305 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:154145304_154145304CT>C uc003faa.3 - 2 1274 c.1174_splice c.e2+1 p.I392_splice NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 392 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGAGGACTTACTTTTTTTCCC 0.488 RNF145 153830 broad.mit.edu 37 5 158596066 158596066 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:158596065_158596065TA>T uc010jiq.2 - 8 1179 c.1029_splice c.e8-1 p.R343_splice RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron NM_001199380 NP_001186309 Q96MT1 RN145_HUMAN Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA. 313 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCATGCCCCTAAAAAAAGCA 0.363 MLL3 58508 broad.mit.edu 37 7 151836879 151836879 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:151836878_151836878TA>T uc003wla.3 - 56 14563 c.14344_splice c.e56-1 p.G4782_splice MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4782 SET. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCCCAGCCCCTAAAAAAAAGT 0.413 N medulloblastoma KIF5B 3799 broad.mit.edu 37 10 32307245 32307245 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:32307244_32307244CT>C uc001iwe.4 - 22 2909 c.2439_splice c.e22+1 p.K813_splice NM_004521 NP_004512 P33176 KINH_HUMAN Homo sapiens kinesin family member 5B (KIF5B), mRNA. 813 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) GTTACATTACCTTTTTAACTC 0.368 T """RET, ALK""" NSCLC ATL3 25923 broad.mit.edu 37 11 63420050 63420050 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:63420049_63420049TA>T uc001nxk.1 - 4 682 c.406_splice c.e4-1 p.V136_splice ATL3_uc010rms.1_Splice_Site_p.V118_splice NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN Homo sapiens atlastin GTPase 3 (ATL3), mRNA. 136 Golgi organization|endoplasmic reticulum organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AACTGCAACCTAAAAAAAAGG 0.373 PSTPIP2 9050 broad.mit.edu 37 18 43595906 43595906 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:43595905_43595905TA>T uc002lbp.4 - 4 309 c.213_splice c.e4-1 p.N71_splice PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 71 FCH. membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TTCAGGGTGCTAAAAAAAACA 0.383 YIPF2 78992 broad.mit.edu 37 19 11034678 11034678 + Splice_Site DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:11034677_11034677TG>T uc002mqc.3 - 7 612 c.485_splice c.e7-1 p.V162_splice DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Splice_Site_p.V162_splice NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA. 162 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CCACGGTCACTGGGGGGGGCA 0.672 PI4KA 5297 broad.mit.edu 37 22 21188946 21188947 + Splice_Site INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:21188945_21188946T>TA uc002zsz.4 - 3 361 c.100_splice c.e3-1 p.H34_splice PI4KA_uc010gsq.2_Splice_Site_p.H120_splice NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 34 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ATCTTTGTGCtaaaaaataata 0.356 HIVEP3 59269 broad.mit.edu 37 1 42048716 42048716 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:42048716delG uc001cgz.3 - 4 2966 c.1753delC c.(1753-1755)CGGfs p.R585fs HIVEP3_uc001cha.3_Frame_Shift_Del_p.R585fs|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 585 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCAGCATCCGGGGGTGGGAG 0.597 CLDN19 149461 broad.mit.edu 37 1 43204235 43204236 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:43204235_43204236insC uc001cht.1 - 2 435_436 c.244_245insG c.(244-246)GCCfs p.A82fs CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN claudin 19 isoform a 82 Helical; (Potential). calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CACCATCAGGGCCCGCGCTGAT 0.658 PTCH2 8643 broad.mit.edu 37 1 45288153 45288154 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:45288153_45288154insG uc010olf.1 - 22 3557_3558 c.3545_3546insC c.(3544-3546)CCTfs p.P1182fs PTCH2_uc010olg.1_Frame_Shift_Ins_p.P880fs NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 1182 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CAGGGGACCAAGGGGGCTCATC 0.629 Basal_Cell_Nevus_syndrome OSBPL9 114883 broad.mit.edu 37 1 52246930 52246930 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:52246930delA uc001cst.2 + 16 1370 c.1351delA c.(1351-1353)AAAfs p.K451fs OSBPL9_uc001css.2_Frame_Shift_Del_p.K456fs|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Frame_Shift_Del_p.K452fs|OSBPL9_uc001csu.2_Frame_Shift_Del_p.K461fs|OSBPL9_uc001csv.2_Frame_Shift_Del_p.K286fs|OSBPL9_uc001csw.2_Frame_Shift_Del_p.K438fs|OSBPL9_uc001csy.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001csz.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001cta.2_Frame_Shift_Del_p.K341fs|OSBPL9_uc001ctb.2_Frame_Shift_Del_p.K236fs NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 451 lipid transport lipid binding central_nervous_system(1) 1 ATCAGTTGCCAAAAAGCCATA 0.428 LHX8 431707 broad.mit.edu 37 1 75602895 75602896 + Frame_Shift_Del DEL GT GT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:75602895_75602896delGT uc001dgo.2 + 4 880_881 c.216_217delGT c.(214-219)AAGTGTfs p.K72fs LHX8_uc001dgq.2_Frame_Shift_Del_p.K11fs NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 72_73 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CTCCTGGCAAGTGTGTGTGCAA 0.678 KCNC4 3749 broad.mit.edu 37 1 110754518 110754519 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:110754518_110754519insG uc001dzh.2 + 1 454_455 c.397_398insG c.(397-399)TGGfs p.W133fs KCNC4_uc001dzf.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc009wfr.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzg.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 133 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GCTCACCTTCTGGGGCATCGAC 0.673 MAGI3 260425 broad.mit.edu 37 1 114185046 114185046 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:114185046delA uc001edk.2 + 10 2055 c.1874delA c.(1873-1875)CAAfs p.Q625fs MAGI3_uc001edh.3_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edi.3_Frame_Shift_Del_p.Q625fs|MAGI3_uc010owm.1_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edj.2_Frame_Shift_Del_p.Q346fs NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 650 PDZ 3. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATATACCATCAAAATGTGCAG 0.403 RPRD2 23248 broad.mit.edu 37 1 150418791 150418791 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:150418791delA uc009wlr.2 + 7 985 c.784delA c.(784-786)AAAfs p.K262fs RPRD2_uc010pcc.1_Frame_Shift_Del_p.K236fs|RPRD2_uc001eup.3_Frame_Shift_Del_p.K236fs NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 262 protein binding ovary(1) 1 TAAGCAGGTGAAAAACGGACC 0.363 IGSF9 57549 broad.mit.edu 37 1 159900598 159900599 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:159900598_159900599insC uc001fur.2 - 14 1894_1895 c.1696_1697insG c.(1696-1698)GCTfs p.A566fs IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 566 Fibronectin type-III 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAGGTGAGCAGCCCCCACAGGC 0.619 CR2 1380 broad.mit.edu 37 1 207644227 207644227 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:207644227delG uc001hfw.2 + 7 1462 c.1368delG c.(1366-1368)GAGfs p.E456fs CR2_uc001hfv.2_Frame_Shift_Del_p.E456fs|CR2_uc009xch.2_Frame_Shift_Del_p.E456fs|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 456 Sushi 7.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GTACCTCTGAGGGGGTGTGGA 0.448 EXOC8 149371 broad.mit.edu 37 1 231471450 231471450 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:231471450delA uc001huq.2 - 1 2129 c.2042delT c.(2041-2043)TTAfs p.L681fs NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 681 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TGTTTCATATAAAAAGGATGC 0.423 PCNXL2 80003 broad.mit.edu 37 1 233313614 233313614 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:233313614delT uc001hvl.2 - 17 3442 c.3207delA c.(3205-3207)AAAfs p.K1069fs PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1069 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GATGTAAAAATTTAGGAAACA 0.413 FMN2 56776 broad.mit.edu 37 1 240256111 240256112 + Frame_Shift_Ins INS - - C rs149103365 by1000genomes TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:240256111_240256112insC uc010pyd.1 + 1 927_928 c.702_703insC c.(700-705)GCGCCCfs p.A234fs FMN2_uc010pye.1_Frame_Shift_Ins_p.A234fs NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 234_235 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCCTGCAGCGCCCCCCACTGC 0.540 FMN2 56776 broad.mit.edu 37 1 240371335 240371335 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:240371335delC uc010pyd.1 + 5 3448 c.3223delC c.(3223-3225)CCCfs p.P1075fs FMN2_uc010pye.1_Frame_Shift_Del_p.P1079fs NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1075 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGGGCATACCCCCTCCGCC 0.731 ACP2 53 broad.mit.edu 37 11 47266285 47266285 + Splice_Site DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:47266285delC uc001nei.2 - 7 889 c.772_splice c.e7+1 p.G258_splice ACP2_uc010rhe.1_Splice_Site_p.G230_splice|ACP2_uc009ylj.2_Splice_Site_p.G186_splice|ACP2_uc010rhf.1_Splice_Site_p.G226_splice|ACP2_uc010rhg.1_Splice_Site_p.G195_splice|ACP2_uc010rhh.1_Splice_Site_p.G71_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 TTGTCACTCACCCCCCTGAAG 0.562 TNKS1BP1 85456 broad.mit.edu 37 11 57070273 57070273 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:57070273delG uc001njr.2 - 6 4655 c.4343delC c.(4342-4344)CCAfs p.P1448fs TNKS1BP1_uc001njp.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njq.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njs.2_Frame_Shift_Del_p.P1448fs NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1448 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GCCGGAGGGTGGGGGGCGGGC 0.682 OR4D9 390199 broad.mit.edu 37 11 59282706 59282706 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:59282706delG uc010rkv.1 + 1 321 c.321delG c.(319-321)CTGfs p.L107fs NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCACCTTCTGGGGGGAGCAG 0.488 C11orf48 79081 broad.mit.edu 37 11 62435132 62435134 + In_Frame_Del DEL TCT TCT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:62435132_62435134delTCT uc001nue.2 - 4 834_836 c.399_401delAGA c.(397-402)GAAGAT>GAT p.E133del C11orf48_uc001nuf.2_In_Frame_Del_p.E133del|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_In_Frame_Del_p.E133del NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 159 0 CCAACAAGCATCTTCTTCATCCT 0.537 MYEOV 26579 broad.mit.edu 37 11 69063724 69063724 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:69063724delG uc001oov.2 + 3 1257 c.807delG c.(805-807)CTGfs p.L269fs MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.L211fs NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 269 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TTGAGGCCCTGGGGGGGTGGC 0.597 SLC36A4 120103 broad.mit.edu 37 11 92887400 92887401 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:92887400_92887401insA uc001pdn.2 - 10 1177_1178 c.1080_1081insT c.(1078-1083)TTTGTGfs p.F360fs SLC36A4_uc001pdm.2_Frame_Shift_Ins_p.F225fs NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 360_361 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAATATGTCACAAAAATGCCAA 0.302 ADAMTS8 11095 broad.mit.edu 37 11 130278693 130278693 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:130278693delC uc001qgg.3 - 7 2251 c.1893delG c.(1891-1893)GGGfs p.G631fs ADAMTS8_uc001qgf.2_Frame_Shift_Del_p.G112fs NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 631 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ACTCGCTCCTCCCCCGGGCTC 0.622 RIMKLB 57494 broad.mit.edu 37 12 8926321 8926321 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:8926321delG uc001quu.2 + 6 1353 c.1102delG c.(1102-1104)GGGfs p.G368fs RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Frame_Shift_Del_p.G368fs|RIMKLB_uc010sgl.1_Frame_Shift_Del_p.G368fs|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 368 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CAAGCTCCCAGGGGGCCTGTT 0.512 GYS2 2998 broad.mit.edu 37 12 21712605 21712605 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:21712605delT uc001rfb.2 - 9 1464 c.1209delA c.(1207-1209)AAAfs p.K403fs NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 403 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 CATCATAGAGTTTTTTTCCAA 0.289 ZCRB1 85437 broad.mit.edu 37 12 42707703 42707703 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:42707703delT uc001rmz.2 - 6 628 c.419delA c.(418-420)AAGfs p.K140fs PPHLN1_uc001rmy.2_Intron NM_033114 NP_149105 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 140 Poly-Lys. mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding skin(1) 1 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) AGGAGCTTTCTTTTTTTTCTT 0.343 ENDOU 8909 broad.mit.edu 37 12 48106392 48106392 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:48106392delT uc001rpu.1 - 8 1033 c.879delA c.(877-879)AAAfs p.K293fs ENDOU_uc010sll.1_Frame_Shift_Del_p.K59fs|ENDOU_uc001rpt.1_Frame_Shift_Del_p.K252fs|ENDOU_uc010slm.1_Frame_Shift_Del_p.K230fs NM_006025 NP_006016 P21128 ENDOU_HUMAN placental protein 11 precursor 293 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity ovary(2)|pancreas(1) 3 TAACCTTGCCTTTTTTTACCT 0.502 UHRF1BP1L 23074 broad.mit.edu 37 12 100441791 100441791 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:100441791delA uc001tgq.2 - 18 4131 c.3902delT c.(3901-3903)TTGfs p.L1301fs UHRF1BP1L_uc001tgp.2_Frame_Shift_Del_p.L951fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1301 ovary(2) 2 TTCATCTTCCAAAAAATGTTG 0.274 PMCH 5367 broad.mit.edu 37 12 102591346 102591346 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:102591346delT uc001tjl.2 - 1 269 c.203delA c.(202-204)AATfs p.N68fs NM_002674 NP_002665 P20382 MCH_HUMAN pro-melanin-concentrating hormone 68 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity 0 GCTCTCATCATTTTTATATTG 0.343 ULK1 8408 broad.mit.edu 37 12 132402065 132402066 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:132402065_132402066insC uc001uje.2 + 22 2560_2561 c.2292_2293insC c.(2290-2295)ACGCCCfs p.T764fs NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 764_765 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) GCGGGAGCACGCCCCCCCAGGG 0.718 PDS5B 23047 broad.mit.edu 37 13 33344568 33344568 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:33344568delA uc010abf.2 + 32 4092 c.3934delA c.(3934-3936)AAAfs p.K1312fs PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1312 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GAAAACTTCTAAAAAAGGAAG 0.423 ZC3H13 23091 broad.mit.edu 37 13 46549602 46549603 + Frame_Shift_Ins INS - - CT TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:46549602_46549603insCT uc010tfw.1 - 11 2289_2290 c.2283_2284insAG c.(2281-2286)GAGCGAfs p.E761fs ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 761_762 Arg/Glu-rich.|Potential. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) tcccgttctcgctctctctccc 0.144 TDRD3 81550 broad.mit.edu 37 13 61084778 61084779 + Frame_Shift_Ins INS - - GG TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:61084778_61084779insGG uc001via.2 + 10 1539_1540 c.751_752insGG c.(751-753)AGGfs p.R251fs TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001vhz.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.2_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.3_Frame_Shift_Ins_p.R250fs NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 251 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AGGAAAAGGCAGGGGGCGAATA 0.347 TEP1 7011 broad.mit.edu 37 14 20852227 20852227 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:20852227delC uc001vxe.2 - 24 3544 c.3504delG c.(3502-3504)GGGfs p.G1168fs TEP1_uc010ahk.2_Frame_Shift_Del_p.G518fs|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Frame_Shift_Del_p.G1060fs|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1168 ATP (Potential).|NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTCCTGACTGCCCCGTCACCA 0.642 SALL2 6297 broad.mit.edu 37 14 21992285 21992285 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:21992285delT uc001wbe.2 - 2 1859 c.1577delA c.(1576-1578)AACfs p.N526fs SALL2_uc010tly.1_Frame_Shift_Del_p.N524fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.N389fs|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Frame_Shift_Del_p.N391fs|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 526 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGGGGGGGTGTTTTCATCAGC 0.527 NFATC4 4776 broad.mit.edu 37 14 24843554 24843563 + Frame_Shift_Del DEL GCCCCAGGTG GCCCCAGGTG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:24843554_24843563delGCCCCAGGTG uc001wpc.2 + 6 2076_2085 c.1755_1764delGCCCCAGGTG c.(1753-1764)CTGCCCCAGGTGfs p.L585fs NFATC4_uc010tok.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010tol.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010alr.2_Frame_Shift_Del_p.L648fs|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010ton.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010too.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010alt.2_Frame_Shift_Del_p.L617fs|NFATC4_uc010top.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010toq.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Frame_Shift_Del_p.L585fs|NFATC4_uc010tos.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tot.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tou.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tov.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tow.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010alv.2_Frame_Shift_Del_p.L573fs|NFATC4_uc010tox.1_Frame_Shift_Del_p.L515fs|NFATC4_uc001wpd.2_Frame_Shift_Del_p.L120fs|NFATC4_uc010toy.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010toz.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 585_588 IPT/TIG. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CCCAGGAGCTGCCCCAGGTGGAGGCCTACA 0.633 TTC9 23508 broad.mit.edu 37 14 71109123 71109123 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:71109123delC uc001xmi.2 + 1 620 c.277delC c.(277-279)CCCfs p.P93fs uc001xmh.1_5'Flank NM_015351 NP_056166 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 93 binding 0 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) GCTGCTGCCGCCCCCCGGGGA 0.667 SIPA1L1 26037 broad.mit.edu 37 14 72190553 72190554 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:72190553_72190554insA uc001xms.2 + 16 4809_4810 c.4461_4462insA c.(4459-4464)TGGAAAfs p.W1487fs SIPA1L1_uc001xmt.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.2_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.1_Frame_Shift_Ins_p.W941fs|SIPA1L1_uc001xmw.2_Frame_Shift_Ins_p.W252fs NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1487_1488 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGATTGGATGGAAAAAACCCGA 0.416 VASH1 22846 broad.mit.edu 37 14 77229171 77229171 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:77229171delG uc001xst.2 + 1 937 c.7delG c.(7-9)GGGfs p.G3fs VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 3 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AGGGATGCCAGGGGGGAAGAA 0.647 ASB2 51676 broad.mit.edu 37 14 94405856 94405857 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:94405856_94405857delGC uc001ycc.1 - 6 1559_1560 c.1070_1071delGC c.(1069-1071)CGCfs p.R357fs ASB2_uc001ycb.1_Frame_Shift_Del_p.R51fs|ASB2_uc001ycd.2_Frame_Shift_Del_p.R405fs|ASB2_uc001yce.1_Frame_Shift_Del_p.R303fs NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 357 intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTTCGTAGAGGCGCGCGCGCTC 0.708 C15orf2 23742 broad.mit.edu 37 15 24921326 24921326 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:24921326delC uc001ywo.2 + 1 786 c.312delC c.(310-312)AACfs p.N104fs NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 104 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGCTCGGAACCCCCCGAGGT 0.677 COPS2 9318 broad.mit.edu 37 15 49426244 49426244 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:49426244delA uc001zxf.2 - 8 856 c.777delT c.(775-777)TTTfs p.F259fs COPS2_uc001zxh.2_Frame_Shift_Del_p.F266fs|COPS2_uc010ufa.1_Frame_Shift_Del_p.F195fs NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 259 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TGAAGGCTTCAAAAAAATCAG 0.353 SEMA4B 10509 broad.mit.edu 37 15 90766838 90766841 + Frame_Shift_Del DEL CCTC CCTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:90766838_90766841delCCTC uc002boy.2 + 9 1192_1195 c.909_912delCCTC c.(907-912)TTCCTCfs p.F303fs SEMA4B_uc002boz.2_Frame_Shift_Del_p.F303fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F141fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F141fs|SEMA4B_uc010bnv.1_5'UTR NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GGACCTCCTTCCTCAAGGCCCAGC 0.652 CASKIN1 57524 broad.mit.edu 37 16 2231521 2231522 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:2231521_2231522insC uc010bsg.1 - 18 1879_1880 c.1847_1848insG c.(1846-1848)GGCfs p.G616fs NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 616 signal transduction cytoplasm skin(2) 2 GGCGCAGGGGGCCCCCCTCATA 0.653 TRAP1 10131 broad.mit.edu 37 16 3716059 3716059 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:3716059delT uc002cvt.3 - 12 1385 c.1296delA c.(1294-1296)AAAfs p.K432fs TRAP1_uc002cvs.2_Frame_Shift_Del_p.K223fs|TRAP1_uc010uxf.1_Frame_Shift_Del_p.K379fs NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 432 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) TCTCAGCATCTTTTTTACTCT 0.448 GPR139 124274 broad.mit.edu 37 16 20043085 20043085 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:20043085delT uc002dgu.1 - 2 1196 c.1034delA c.(1033-1035)AATfs p.N345fs GPR139_uc010vaw.1_Frame_Shift_Del_p.N252fs NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 345 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 AGGTTTTCCATTTTTGTCATA 0.458 SRCAP 10847 broad.mit.edu 37 16 30734923 30734923 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:30734923delC uc002dze.1 + 25 4563 c.4178delC c.(4177-4179)GCCfs p.A1393fs SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A1188fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.A963fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1393 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CCCGGAGCTGCCCCCTTGACC 0.572 FAM92B 339145 broad.mit.edu 37 16 85135924 85135924 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:85135924delA uc010vok.1 - 6 703 c.547delT c.(547-549)TGTfs p.C183fs NM_198491 NP_940893 Q6ZTR7 FA92B_HUMAN hypothetical protein LOC339145 183 central_nervous_system(1) 1 ACAAAGTCACAAAAAAATTTC 0.507 PELP1 27043 broad.mit.edu 37 17 4574987 4574987 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:4574987delT uc002fyi.3 - 16 3525 c.3299delA c.(3298-3300)AAGfs p.K1100fs PELP1_uc010vsf.1_Frame_Shift_Del_p.K876fs NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 1100 Glu-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 GCCTCTCACCTTTTCCTGGAG 0.602 KIAA0100 9703 broad.mit.edu 37 17 26961947 26961947 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:26961947delA uc002hbu.2 - 16 2757 c.2658delT c.(2656-2658)TTTfs p.F886fs NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 886 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GTTTCACCTCAAAAACATCAT 0.483 CUEDC1 404093 broad.mit.edu 37 17 55962835 55962835 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:55962835delG uc002ivd.1 - 2 810 c.91delC c.(91-93)CAGfs p.Q31fs CUEDC1_uc002ive.1_Frame_Shift_Del_p.Q31fs NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 31 skin(2) 2 TTGAGCTCCTggggggcggcc 0.443 TNRC6C 57690 broad.mit.edu 37 17 76047106 76047107 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:76047106_76047107insG uc002jud.2 + 4 2563_2564 c.1963_1964insG c.(1963-1965)TGGfs p.W655fs TNRC6C_uc002juf.2_Frame_Shift_Ins_p.W655fs|TNRC6C_uc002jue.2_Frame_Shift_Ins_p.W655fs NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 655 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) AGGTACAAACTGGGGGGAGACT 0.510 PSMG2 56984 broad.mit.edu 37 18 12720544 12720544 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:12720544delA uc002krk.2 + 5 486 c.443delA c.(442-444)CAAfs p.Q148fs PSMG2_uc002krg.2_Frame_Shift_Del_p.Q117fs|PSMG2_uc002krj.1_Frame_Shift_Del_p.Q148fs NM_020232 NP_064617 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly 148 proteasome assembly nucleus protein binding 0 CCTTCCATGCAAAAAAGTGTT 0.343 FHOD3 80206 broad.mit.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:34205516delC uc002kzt.1 + 10 1097 c.1000delC c.(1000-1002)CCCfs p.P334fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 334 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACGGAGCCACCCCCCAGTGG 0.677 ALPK2 115701 broad.mit.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:56246941delA uc002lhj.3 - 4 1281 c.1067delT c.(1066-1068)TTAfs p.L356fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 356 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GCTTTCTAATAAAAAAACATG 0.478 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NCLN 56926 broad.mit.edu 37 19 3204745 3204745 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:3204745delG uc002lxi.2 + 9 1358 c.1204delG c.(1204-1206)GTGfs p.V402fs NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Frame_Shift_Del_p.V47fs NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 402 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CATCATGGACGTGCGGTGAGC 0.701 ZNF626 199777 broad.mit.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:20808338delT uc002npb.1 - 4 495 c.345delA c.(343-345)AAAfs p.K115fs ZNF626_uc002npc.1_Frame_Shift_Del_p.K39fs NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTATACATCCTTTTTTTAACT 0.353 RYR1 6261 broad.mit.edu 37 19 39068674 39068675 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:39068674_39068675insG uc002oit.2 + 98 14419_14420 c.14289_14290insG c.(14287-14292)CCAGGGfs p.P4763fs RYR1_uc002oiu.2_Frame_Shift_Ins_p.P4758fs NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4763_4764 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCCGCCGCCAGGGCTGCTGAC 0.653 LTBP4 8425 broad.mit.edu 37 19 41117787 41117787 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:41117787delC uc002ooh.1 + 17 2277 c.2277delC c.(2275-2277)AGCfs p.S759fs LTBP4_uc002oog.1_Frame_Shift_Del_p.S722fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.S692fs|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Frame_Shift_Del_p.A50fs|LTBP4_uc010ehb.1_5'UTR|LTBP4_uc002ook.1_5'UTR|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 759 Cys-rich.|EGF-like 8; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGCCCGAAGCCCCCCACCCT 0.622 PVR 5817 broad.mit.edu 37 19 45153247 45153248 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:45153247_45153248delCA uc002ozm.2 + 3 893_894 c.594_595delCA c.(592-597)GGCACAfs p.G198fs PVR_uc010ejs.2_Frame_Shift_Del_p.G198fs|PVR_uc010xxb.1_Frame_Shift_Del_p.G198fs|PVR_uc010xxc.1_Frame_Shift_Del_p.G198fs|PVR_uc002ozn.2_Frame_Shift_Del_p.G143fs NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 198_199 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TCCTGTCTGGCACAGTCACTGT 0.614 SYNGR4 23546 broad.mit.edu 37 19 48879543 48879544 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:48879543_48879544insC uc002piz.2 + 5 918_919 c.673_674insC c.(673-675)TCCfs p.S225fs NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 225 integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CGCTCCAAAGTCCCCCCGGCTT 0.530 PRR12 57479 broad.mit.edu 37 19 50102880 50102880 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:50102880delG uc002poo.3 + 5 4030 c.4030delG c.(4030-4032)GGGfs p.G1344fs NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 523 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTTTGGGCTTGGGGGCGCCCT 0.677 LTBP1 4052 broad.mit.edu 37 2 33590553 33590554 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:33590553_33590554insC uc002ros.2 + 31 4697_4698 c.4697_4698insC c.(4696-4698)TGCfs p.C1566fs LTBP1_uc002rot.2_Frame_Shift_Ins_p.C1240fs|LTBP1_uc002rou.2_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.2_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.1_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.1_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.1_Frame_Shift_Ins_p.C463fs NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1565 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTGCCCTCTGCCCCCTGAAGG 0.540 ZFP36L2 678 broad.mit.edu 37 2 43452885 43452886 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:43452885_43452886delTC uc002rsv.3 - 2 348_349 c.57_58delGA c.(55-60)GAGAAAfs p.E19fs LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 19_20 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCAGGGATTTCTCTGTCTGCC 0.624 NRXN1 9378 broad.mit.edu 37 2 50574000 50574001 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:50574000_50574001insC uc010fbp.2 - 1 894_895 c.87_88insG c.(85-90)GGGCGCfs p.G29fs NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 29_30 angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGGGCCAGGCGCCCCCCTGcgc 0.579 VAX2 25806 broad.mit.edu 37 2 71160188 71160188 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:71160188delC uc002shh.2 + 3 759 c.727delC c.(727-729)CCCfs p.P243fs ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 243 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCCACTGCCGCCCCCTCTGCC 0.672 TTN 7273 broad.mit.edu 37 2 179395589 179395589 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:179395589delT uc010zfg.1 - 307 98273 c.98049delA c.(98047-98049)AAAfs p.K32683fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.K26378fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K26311fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K26186fs|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33610 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) ATTTCACTCGTTTTGGAGACT 0.502 SP100 6672 broad.mit.edu 37 2 231326044 231326044 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:231326044delA uc002vqt.2 + 9 1029 c.888delA c.(886-888)ATAfs p.I296fs SP100_uc002vqs.2_Frame_Shift_Del_p.I296fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I296fs|SP100_uc010zmb.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqq.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqr.1_Frame_Shift_Del_p.I271fs|SP100_uc010zmc.1_Frame_Shift_Del_p.I271fs|SP100_uc002vqv.1_Frame_Shift_Del_p.I260fs NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 296 PxVxL motif. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGGTGGATATAAAAAAGGAAA 0.398 TP53INP2 58476 broad.mit.edu 37 20 33296586 33296586 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:33296586delC uc002xau.1 + 3 378 c.43delC c.(43-45)CCCfs p.P15fs NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 15 nucleus 0 CACCCCCTCGCCCCCCGAAGA 0.662 CD40 958 broad.mit.edu 37 20 44757522 44757522 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:44757522delC uc002xrg.1 + 9 754 c.677delC c.(676-678)GCCfs p.A226fs CD40_uc002xrh.1_3'UTR|CD40_uc002xri.1_3'UTR|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 226 Cytoplasmic (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CCTCTCCAGGCCCCCCACCCC 0.627 Immune_Deficiency_with_Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PCK1 5105 broad.mit.edu 37 20 56140815 56140816 + Frame_Shift_Ins INS - - GA rs17847705 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:56140815_56140816insGA uc002xyn.3 + 10 1987_1988 c.1824_1825insGA c.(1822-1827)ATCGAGfs p.I608fs PCK1_uc010zzm.1_Frame_Shift_Ins_p.I291fs NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 608_609 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTGTGAAATCGAGAGAGAGAT 0.465 TTC3 7267 broad.mit.edu 37 21 38512963 38512963 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:38512963delA uc002yvz.2 + 20 1867 c.1762delA c.(1762-1764)AAAfs p.K588fs TTC3_uc011aee.1_Frame_Shift_Del_p.K278fs|TTC3_uc002ywa.2_Frame_Shift_Del_p.K588fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.K588fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.K353fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.K278fs|TTC3_uc011aed.1_Frame_Shift_Del_p.K278fs|TTC3_uc010gne.1_Frame_Shift_Del_p.K588fs NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 588 TPR 4. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AGTATATTTGAAAAAAAACAG 0.348 COL18A1 80781 broad.mit.edu 37 21 46916425 46916425 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:46916425delC uc011afs.1 + 29 3786 c.3765delC c.(3763-3765)GGCfs p.G1255fs COL18A1_uc002zhg.2_Frame_Shift_Del_p.G840fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G1020fs NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1255 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAATGCCCGGCCCCCCAGGAC 0.582 MICAL3 57553 broad.mit.edu 37 22 18300311 18300311 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:18300311delG uc002zng.3 - 26 5469 c.5116delC c.(5116-5118)CGCfs p.R1706fs MICAL3_uc011agl.1_Frame_Shift_Del_p.R1622fs|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1706 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TTGTTTCTGCGGGGGGAGAAG 0.622 L3MBTL2 83746 broad.mit.edu 37 22 41609902 41609903 + Frame_Shift_Del DEL TG TG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:41609902_41609903delTG uc003azo.2 + 3 322_323 c.268_269delTG c.(268-270)TGTfs p.C90fs L3MBTL2_uc010gyi.1_5'UTR|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 90 FCS-type. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 CCCAGCTGTCTGTGAGATGTGT 0.520 CELSR1 9620 broad.mit.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:46931227delC uc003bhw.1 - 1 1841 c.1841delG c.(1840-1842)GGCfs p.G614fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 614 Extracellular (Potential).|Cadherin 4. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCGCTGCCGCCCCCCAGAAA 0.657 LRRC31 79782 broad.mit.edu 37 3 169579523 169579523 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:169579523delT uc003fgc.1 - 2 331 c.254delA c.(253-255)AAGfs p.K85fs LRRC31_uc010hwp.1_Frame_Shift_Del_p.K85fs NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 85 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GTTGACAGCCTTTTTGCCCAG 0.408 FAM193A 8603 broad.mit.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:2661593delC uc010icl.2 + 8 1035 c.684delC c.(682-684)GACfs p.D228fs FAM193A_uc010ick.2_Frame_Shift_Del_p.D428fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 228 ovary(3) 3 GTATCATGGACCCCCCCGTCA 0.522 BMPR1B 658 broad.mit.edu 37 4 96025646 96025646 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:96025646delC uc003htm.3 + 4 345 c.71delC c.(70-72)ACCfs p.T24fs BMPR1B_uc010ilb.2_Frame_Shift_Del_p.T24fs|BMPR1B_uc003htn.3_Frame_Shift_Del_p.T24fs NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 24 Extracellular (Potential). BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) ACAGCCCCCACCCCCCGTCCA 0.433 BBS12 166379 broad.mit.edu 37 4 123664721 123664722 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:123664721_123664722insA uc003ieu.2 + 2 1867_1868 c.1674_1675insA c.(1672-1677)CTGAAAfs p.L558fs NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 558_559 cellular protein metabolic process cilium ATP binding ovary(2) 2 AGCAATCTCTGAAAAAAGAAAA 0.426 Bardet-Biedl_syndrome ODZ3 55714 broad.mit.edu 37 4 183714567 183714567 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:183714567delT uc003ivd.1 + 25 6779 c.6742delT c.(6742-6744)TTTfs p.F2248fs NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2248 YD 22.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCACCTGCAGTTTTTTTATGC 0.443 CCDC110 256309 broad.mit.edu 37 4 186379943 186379943 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:186379943delT uc003ixu.3 - 6 1874 c.1798delA c.(1798-1800)AGCfs p.S600fs CCDC110_uc003ixv.3_Frame_Shift_Del_p.S563fs|CCDC110_uc011ckt.1_Frame_Shift_Del_p.S600fs NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 600 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CCAAGTGAGCTTTTTTCTTTT 0.323 TRIO 7204 broad.mit.edu 37 5 14387627 14387627 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:14387627delA uc003jff.2 + 22 3657 c.3651delA c.(3649-3651)ATAfs p.I1217fs TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Frame_Shift_Del_p.I1168fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.I866fs NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1217 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CGGCAGAGATAAAAAAATGTG 0.443 MCC 4163 broad.mit.edu 37 5 112487025 112487025 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:112487025delT uc003kqj.3 - 2 682 c.152delA c.(151-153)AAGfs p.K51fs MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Frame_Shift_Del_p.K241fs|MCC_uc011cwb.1_Frame_Shift_Del_p.K51fs|MCC_uc010jcd.1_Intron NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 51 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGCCAATTTCTTTTCCAGAAG 0.398 KIF20A 10112 broad.mit.edu 37 5 137519413 137519413 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:137519413delG uc003lcj.2 + 10 1672 c.1176delG c.(1174-1176)CAGfs p.Q392fs KIF20A_uc011cyo.1_Frame_Shift_Del_p.Q374fs NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 392 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TACACCTTCAGGGGGAAGGAG 0.423 SLC6A7 6534 broad.mit.edu 37 5 149580755 149580755 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:149580755delC uc003lrr.2 + 6 1198 c.827delC c.(826-828)ACCfs p.T276fs NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 276 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TTCTATCTCACCCCCCAGTTC 0.632 EHMT2 10919 broad.mit.edu 37 6 31864763 31864763 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:31864763delC uc003nxz.1 - 2 56 c.46delG c.(46-48)GAGfs p.E16fs EHMT2_uc003nxy.1_5'Flank|EHMT2_uc011don.1_Frame_Shift_Del_p.E73fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.E16fs|EHMT2_uc003nyb.1_Frame_Shift_Del_p.E16fs|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 16 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 GCGGGGGCCTCCCCCTGGGAG 0.652 GPSM3 63940 broad.mit.edu 37 6 32160020 32160020 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:32160020delG uc003oay.3 - 2 443 c.50delC c.(49-51)CCTfs p.P17fs PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Del_p.L7fs|GPSM3_uc003oaz.2_Frame_Shift_Del_p.P17fs NM_022107 NP_071390 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 (AGS3-like, C. 17 Pro-rich. signal transduction cytoplasm GTPase activator activity|protein binding 0 CTCATCCTGAGGGGGGCCCTG 0.622 HEY2 23493 broad.mit.edu 37 6 126080802 126080802 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:126080802delC uc003qad.2 + 5 1059 c.868delC c.(868-870)CCCfs p.P290fs HEY2_uc011ebr.1_Frame_Shift_Del_p.P244fs NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 290 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CCCCATGCTTCCCCCAAACGC 0.652 RUNDC3B 154661 broad.mit.edu 37 7 87258157 87258157 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:87258157delG uc003ujb.2 + 1 429 c.18delG c.(16-18)CTGfs p.L6fs ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 6 skin(1) 1 Esophageal squamous(14;0.00164) CCCGGAGCCTGGGGGGCCTGA 0.701 TAF6 6878 broad.mit.edu 37 7 99706154 99706155 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:99706154_99706155delCA uc003uti.2 - 13 1374_1375 c.1293_1294delTG c.(1291-1296)TGTGCTfs p.C431fs AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Frame_Shift_Del_p.C353fs|TAF6_uc003uth.2_Frame_Shift_Del_p.C488fs|TAF6_uc003utk.2_Frame_Shift_Del_p.C431fs|TAF6_uc011kji.1_Frame_Shift_Del_p.C468fs|TAF6_uc003utj.2_Frame_Shift_Del_p.C421fs|TAF6_uc003utl.2_Frame_Shift_Del_p.C431fs|TAF6_uc003utm.2_Frame_Shift_Del_p.C431fs NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 431_432 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGAACAGGAGCACAGTGTTTCT 0.574 MUC17 140453 broad.mit.edu 37 7 100676652 100676654 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:100676652_100676654delCTC uc003uxp.1 + 3 2008_2010 c.1955_1957delCTC c.(1954-1959)ACTCCT>ACT p.P653del MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 653 Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTTTCAACAACTCCTGTTGACTC 0.478 ARHGEF35 445328 broad.mit.edu 37 7 143884068 143884068 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:143884068delA uc003wdz.1 - 2 1527 c.1409delT c.(1408-1410)TTGfs p.L470fs NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 470 0 CTCCTCAGTCAAAAAGGAGCC 0.373 MLL3 58508 broad.mit.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:151845524delA uc003wla.2 - 52 13707 c.13488delT c.(13486-13488)TTTfs p.F4496fs MLL3_uc003wkz.2_Frame_Shift_Del_p.F3614fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.F654fs|MLL3_uc003wky.2_Frame_Shift_Del_p.F2060fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4496 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTTTGTCCTTAAAAAACATGC 0.433 N medulloblastoma SOX17 64321 broad.mit.edu 37 8 55372288 55372288 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:55372288delC uc003xsb.3 + 2 1182 c.978delC c.(976-978)CACfs p.H326fs NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 326 Gln/Pro-rich.|Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) accagcaccaCCCCCCGGGCC 0.532 EPPK1 83481 broad.mit.edu 37 8 144940074 144940081 + Splice_Site DEL AAAAAAAC AAAAAAAC - rs6558397 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:144940074_144940081delAAAAAAAC uc003zaa.1 - 3 15358 c.15345_splice c.e3-1 NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 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) aatgacaaaaaaaaaaacaaaaaaaaaa 0.351 DENND4C 55667 broad.mit.edu 37 9 19324482 19324482 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:19324482delT uc003znq.2 + 9 1255 c.1222delT c.(1222-1224)TTTfs p.F408fs DENND4C_uc011lnc.1_Intron NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 408 integral to membrane ovary(1)|skin(1) 2 TGGATTAGCATTTTTTGATGA 0.289 TESK1 7016 broad.mit.edu 37 9 35608960 35608960 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:35608960delC uc003zxa.2 + 10 1438 c.1102delC c.(1102-1104)CCCfs p.P368fs TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Frame_Shift_Del_p.P208fs NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 368 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACCAGAATCACCCCCCAACTG 0.607 RALGDS 5900 broad.mit.edu 37 9 135981349 135981351 + In_Frame_Del DEL GTT GTT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:135981349_135981351delGTT uc004cco.2 - 9 1590_1592 c.1570_1572delAAC c.(1570-1572)AACdel p.N524del RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_In_Frame_Del_p.N512del|RALGDS_uc004ccr.2_In_Frame_Del_p.N523del|RALGDS_uc011mcv.1_In_Frame_Del_p.N495del|RALGDS_uc004ccs.2_In_Frame_Del_p.N469del|RALGDS_uc011mcw.1_In_Frame_Del_p.N595del|RALGDS_uc004ccv.1_In_Frame_Del_p.N293del|RALGDS_uc004ccu.1_In_Frame_Del_p.N293del NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 524 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCAATGAGTAGTTGTTCTCATCT 0.369 T CIITA PMBL|Hodgkin Lymphona| KIAA0649 9858 broad.mit.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:138379043delG uc004cfr.1 + 4 3236 c.2687delG c.(2686-2688)AGGfs p.R896fs NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 896 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CAGAGGGCCAGGGGGGTCCCA 0.701 IQSEC2 23096 broad.mit.edu 37 X 53285127 53285127 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:53285127delG uc004dsd.2 - 3 1055 c.854delC c.(853-855)CCTfs p.P285fs IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 275 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 CACTCCAGCAGGGGGGCCCCC 0.687 UBQLN2 29978 broad.mit.edu 37 X 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:56591874delC uc004dus.2 + 1 1803 c.1568delC c.(1567-1569)GCCfs p.A523fs UBQLN2_uc011moq.1_Intron NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 523 11.|12 X 3 AA tandem repeats of P-X-X. cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GGCCCTGCAGCCCCCCCTGGC 0.642 ABCB7 22 broad.mit.edu 37 X 74295434 74295434 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:74295434delA uc004eca.2 - 6 643 c.618delT c.(616-618)TTTfs p.F206fs ABCB7_uc004ebz.2_Frame_Shift_Del_p.F207fs|ABCB7_uc011mqn.1_Frame_Shift_Del_p.F180fs|ABCB7_uc010nls.2_Frame_Shift_Del_p.F167fs|ABCB7_uc010nlt.2_Frame_Shift_Del_p.F166fs NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 206 ABC transmembrane type-1.|Helical; (Potential). cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 GAACTTCGTTAAAAAAAGCAG 0.358 RNF128 79589 broad.mit.edu 37 X 106016247 106016247 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:106016247delA uc004eml.2 + 2 839 c.589delA c.(589-591)AAAfs p.K197fs RNF128_uc004emk.2_Frame_Shift_Del_p.K171fs NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 197 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 AGAAGTAGGGAAAAAACATGG 0.368 UPF3B 65109 broad.mit.edu 37 X 118977168 118977168 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:118977168delT uc004erz.1 - 5 643 c.566delA c.(565-567)AATfs p.N189fs UPF3B_uc004esa.1_Frame_Shift_Del_p.N189fs NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 189 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TAATTCTCTATTTTTTGCTTC 0.299 CLDN19 149461 broad.mit.edu 37 1 43204236 43204237 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:43204235_43204236G>GC uc001cht.1 - 1 435_436 c.244_245C>GC c.(244-246)gccfs p.A82fs CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA. 82 calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding breast(2)|large_intestine(1)|lung(2)|skin(1) 6 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CACCATCAGGGCCCGCGCTGAT 0.658 PTCH2 8643 broad.mit.edu 37 1 45288154 45288155 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:45288153_45288154A>AG uc010olf.2 - 21 3557_3558 c.3545_3546T>CT c.(3544-3546)cctfs p.P1182fs PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Ins_p.P880fs NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 1182 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGGGGACCAAGGGGGCTCATC 0.629 Basal Cell Nevus syndrome KCNC4 3749 broad.mit.edu 37 1 110754519 110754520 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:110754518_110754519T>TG uc009wfr.3 + 0 1183_1184 c.397_398T>TG c.(397-399)tggfs p.W133fs KCNC4_uc001dzf.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzh.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Frame_Shift_Ins_p.W133fs NM_001039574 NP_001034663 Q03721 KCNC4_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA. 133 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GCTCACCTTCTGGGGCATCGAC 0.673 IGSF9 57549 broad.mit.edu 37 1 159900599 159900600 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:159900598_159900599G>GC uc001fur.2 - 13 1894_1895 c.1696_1697C>GC c.(1696-1698)gctfs p.A566fs IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 566 Fibronectin type-III 1. cell junction|integral to membrane|synapse p.Q565R(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAGGTGAGCAGCCCCCACAGGC 0.619 IGSF8 93185 broad.mit.edu 37 1 160063813 160063814 + Frame_Shift_Del DEL GT GT - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:160063812_160063813GGT>G uc001fva.3 - 2 636_637 c.591_592ACC>C c.(589-594)cacctgfs p.H197fs IGSF8_uc001fuz.3_Frame_Shift_Del_p.H197fs|IGSF8_uc009wtf.3_Frame_Shift_Del_p.H197fs NM_052868 NP_443100 Q969P0 IGSF8_HUMAN Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA. 197 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GACACTGCCAGGTGTGTGTGCT 0.653 PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:176762723_176762723TC>T uc001gkz.3 + 19 6212 c.5048_5048TC>T c.(5047-5049)atcfs p.I1683fs PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGT 0.473 CACNA1E 777 broad.mit.edu 37 1 181767673 181767673 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:181767672_181767672AC>A uc009wxt.3 + 47 6839 c.6644_6644AC>A c.(6643-6645)cacfs p.H2215fs CACNA1E_uc001gow.3_Frame_Shift_Del_p.H2172fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.H2153fs NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2215 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AACTCTCCGCACCCCCAGCAG 0.617 NLRP3 114548 broad.mit.edu 37 1 247588106 247588106 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr1:247588105_247588105CG>C uc001icr.3 + 4 1498 c.1360_1360CG>C c.(1360-1362)cggfs p.R454fs NLRP3_uc001ics.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.R454fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.R452fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.R452fs NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 454 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTGCAGCCCCGGGGAGGGAG 0.587 ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Ins INS - - AG TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:10917818_10917819C>CAG uc002ras.3 + 10 1042_1043 c.933_934C>CAG c.(931-936)gacagafs p.D311fs ATP6V1C2_uc002rat.3_Intron NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA. 311 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GGCAGACCGACAGAGAGAGAGA 0.609 LTBP1 4052 broad.mit.edu 37 2 33590554 33590555 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:33590553_33590554G>GC uc021vft.1 + 30 4717_4718 c.4694_4695G>GC c.(4693-4695)tgcfs p.C1565fs LTBP1_uc002rou.3_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.3_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.2_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.2_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.2_Frame_Shift_Ins_p.C463fs NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1565 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTGCCCTCTGCCCCCTGAAGG 0.540 C2orf42 54980 broad.mit.edu 37 2 70406777 70406777 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr2:70406776_70406776TA>T uc002sgh.3 - 4 1152 c.824_splice c.e4-1 p.G275_splice NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 275 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CTTTAAGACCTAAAAAAAAGA 0.353 TRANK1 9881 broad.mit.edu 37 3 36876253 36876253 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:36876252_36876252CT>C uc003cgj.3 - 20 5779 c.5531_splice c.e20+1 p.K1844_splice NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1844 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAACCACCTACTTTTCCACTG 0.478 LRRFIP2 9209 broad.mit.edu 37 3 37114286 37114286 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:37114285_37114285AT>A uc003cgp.2 - 21 1883 c.1460_1460AT>T c.(1459-1461)attfs p.I487fs LRRFIP2_uc011ayf.1_Frame_Shift_Del_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA. 487 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TCATACCCCAATTTTTTTATC 0.398 KIAA1143 57456 broad.mit.edu 37 3 44795778 44795778 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:44795777_44795777CT>C uc011bac.2 - 1 271 c.192_192AG>G c.(190-192)aagfs p.K64fs NM_020696 NP_065747 Q96AT1 K1143_HUMAN Homo sapiens KIAA1143 (KIAA1143), mRNA. 64 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) ACAGGTCTCCCTTTTTTAAAA 0.398 GOLGB1 2804 broad.mit.edu 37 3 121413503 121413503 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:121413502_121413502AT>A uc010hrc.3 - 12 5994 c.5868_5868AT>T c.(5866-5868)aatfs p.N1956fs GOLGB1_uc003eei.4_Frame_Shift_Del_p.N1951fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.N1917fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.N1876fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.N1837fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.N1915fs NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 1951 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CCAATAGCTCATTTTTTATTT 0.358 EAF2 55840 broad.mit.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:121573658_121573658TA>T uc003een.3 + 2 425 c.326_326TA>T c.(325-327)gtafs p.V109fs EAF2_uc003eeo.3_Intron NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN Homo sapiens ELL associated factor 2 (EAF2), mRNA. 109 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) AACATCACTGTAAAAAAAACA 0.249 NPHP3 27031 broad.mit.edu 37 3 132298379 132298379 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr3:132298378_132298378AT>A uc003eov.4 - 13 2026 c.1646_1646AT>T c.(1645-1647)attfs p.I549fs NPHP3_uc011blr.1_Frame_Shift_Del_p.I160fs NM_032169 NP_115545 Q7Z494 NPHP3_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA. 0 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AACAATTGCAATTTTGCACTT 0.383 TLR6 10333 broad.mit.edu 37 4 38830974 38830974 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:38830973_38830973CT>C uc010ifg.2 - 1 243 c.122_122AG>G c.(121-123)agafs p.R41fs TLR6_uc003gtm.3_Frame_Shift_Del_p.R41fs NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 41 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.R41T(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATAAGACCTCTTTTTGACTT 0.388 AFF1 4299 broad.mit.edu 37 4 88035872 88035872 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:88035871_88035871AG>A uc011ccz.2 + 11 2161 c.1886_1886AG>A c.(1885-1887)cagfs p.Q629fs AFF1_uc003hqj.4_Frame_Shift_Del_p.Q622fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.Q622fs|AFF1_uc011cda.2_Frame_Shift_Del_p.Q260fs NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 622 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) ACCAGCCTGCAGGGGGAAAGG 0.617 ANK2 287 broad.mit.edu 37 4 114274959 114274959 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:114274958_114274958TA>T uc003ibe.4 + 37 5284 c.5184_5184TA>T c.(5182-5184)cttfs p.L1728fs ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1695 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGCTGAACTTAAAAAAGGTA 0.413 BBS12 166379 broad.mit.edu 37 4 123664722 123664723 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:123664721_123664722G>GA uc021xrm.1 + 2 2055_2056 c.1674_1675G>GA c.(1672-1677)ctgaaafs p.L558fs BBS12_uc003ieu.3_Frame_Shift_Ins_p.L558fs|BBS12_uc021xrn.1_Frame_Shift_Ins_p.L558fs NM_001178007 NP_689831 Q6ZW61 BBS12_HUMAN Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA. 558 cellular protein metabolic process cilium ATP binding p.E561fs*77(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AGCAATCTCTGAAAAAAGAAAA 0.426 Bardet-Biedl syndrome SORBS2 8470 broad.mit.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr4:186515043_186515043TC>T uc003iyg.3 - 18 3505 c.3473_3473GA>A c.(3472-3474)gaafs p.E1158fs SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 1044 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E1044fs*8(2)|p.E605fs*8(2) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TACTTACGGTTCCCCCCCACC 0.353 PDZD2 23037 broad.mit.edu 37 5 31799657 31799658 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:31799656_31799657A>AG uc003jhl.3 + 1 689_690 c.301_302A>AG c.(301-303)aggfs p.R101fs PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 LMNB1 4001 broad.mit.edu 37 5 126154700 126154701 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:126154699_126154700AAG>A uc003kud.2 + 5 1911_1912 c.1025_1026AAG>A c.(1024-1026)aaafs p.K342fs LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Frame_Shift_Del_p.K132fs NM_005573 NP_001185486 P20700 LMNB1_HUMAN Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA. 342 Coil 2.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) CTGACAGACAAAGAGAGAGAGA 0.421 BRD8 10902 broad.mit.edu 37 5 137505021 137505022 + Frame_Shift_Ins INS - - G rs150525307 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:137505020_137505021C>CG uc003lcf.1 - 7 587_588 c.532_533G>CG c.(532-534)cggfs p.R178fs BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Frame_Shift_Ins_p.R34fs|BRD8_uc003lcg.3_Frame_Shift_Ins_p.R178fs|BRD8_uc003lci.3_Frame_Shift_Ins_p.R178fs|BRD8_uc011cym.2_Frame_Shift_Ins_p.R162fs|BRD8_uc011cyn.1_Frame_Shift_Ins_p.R137fs|BRD8_uc010jes.1_Frame_Shift_Ins_p.R45fs NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 178 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity p.R178Q(2)|p.R178fs*20(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGGTAACCTCCGGGGGGGTGTT 0.441 RNF145 153830 broad.mit.edu 37 5 158596066 158596066 + Splice_Site DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr5:158596065_158596065TA>T uc010jiq.2 - 8 1179 c.1029_splice c.e8-1 p.R343_splice RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron NM_001199380 NP_001186309 Q96MT1 RN145_HUMAN Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA. 313 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCATGCCCCTAAAAAAAGCA 0.363 KIAA0240 23506 broad.mit.edu 37 6 42832627 42832627 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:42832626_42832626TA>T uc003osn.1 + 12 2833 c.2682_2682TA>T c.(2680-2682)tctfs p.S894fs KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 894 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GAAACATTTCTAAAAAAACAG 0.493 CYB5R4 51167 broad.mit.edu 37 6 84634231 84634232 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:84634230_84634231C>CA uc003pkf.3 + 9 865_866 c.733_734C>CA c.(733-735)caafs p.Q245fs NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA. 245 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GATTGTTCTACAAAAAAAAGAG 0.337 QKI 9444 broad.mit.edu 37 6 163899920 163899921 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr6:163899919_163899920T>TA uc003qui.3 + 2 944_945 c.393_394T>TA c.(391-396)gataaafs p.D131fs QKI_uc003quj.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quh.3_Frame_Shift_Ins_p.D131fs|QKI_uc003que.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quf.3_Frame_Shift_Ins_p.D131fs|QKI_uc003qug.3_Frame_Shift_Ins_p.D131fs NM_006775 NP_006766 Q96PU8 QKI_HUMAN Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA. 131 KH. RNA splicing|mRNA processing|mRNA transport|regulation of translation cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding p.K134fs*14(1) central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) CAATGAGGGATAAAAAAAAGGT 0.361 POLM 27434 broad.mit.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:44120413_44120413TG>T uc003tjt.3 - 1 383 c.291_291CA>A c.(289-291)ccafs p.P97fs POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN Homo sapiens polymerase (DNA directed), mu (POLM), mRNA. 97 BRCT. DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CCAGCAGAGCTGGGGGGGTGC 0.637 DNA polymerases (catalytic subunits) COBL 23242 broad.mit.edu 37 7 51095587 51095587 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:51095586_51095586CT>C uc003tps.3 - 10 3563 c.3378_3378AG>G c.(3376-3378)aagfs p.K1126fs COBL_uc003tpr.4_Frame_Shift_Del_p.K1069fs|COBL_uc011kcl.2_Frame_Shift_Del_p.K1069fs|COBL_uc003tpp.4_Frame_Shift_Del_p.K855fs|COBL_uc003tpq.4_Frame_Shift_Del_p.K1010fs|COBL_uc003tpo.4_Frame_Shift_Del_p.K611fs NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 1069 WH2 1. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ACACACTGGGCTTTTCCTCTC 0.527 TFEC 22797 broad.mit.edu 37 7 115594657 115594657 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:115594656_115594656CT>C uc003vhj.2 - 4 676 c.423_423AG>G c.(421-423)aagfs p.K141fs TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 141 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.K141fs*42(1) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TGTGGTTGTCCTTTTTTTGTC 0.333 CPA4 51200 broad.mit.edu 37 7 129950720 129950720 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr7:129950719_129950719CA>C uc003vpr.3 + 8 933 c.886_886CA>C c.(886-888)caafs p.Q296fs CPA4_uc011kpd.2_Frame_Shift_Del_p.Q263fs|CPA4_uc011kpe.2_Frame_Shift_Del_p.Q192fs NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA. 296 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding p.Q296K(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AGATTTCATCCAAAAACATGG 0.517 ADAM28 10863 broad.mit.edu 37 8 24188783 24188784 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:24188782_24188783C>CA uc003xdy.3 + 11 1306_1307 c.1223_1224C>CA c.(1222-1224)ccafs p.P408fs ADAM28_uc003xdx.3_Frame_Shift_Ins_p.P408fs|ADAM28_uc011kzz.2_Frame_Shift_Ins_p.P175fs|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Frame_Shift_Ins_p.P95fs NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 408 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATATCCACTCCAATTTGTGGGA 0.411 ADAM7 8756 broad.mit.edu 37 8 24350675 24350675 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:24350674_24350674AT>A uc003xeb.3 + 15 1887 c.1774_1774AT>A c.(1774-1776)attfs p.I592fs ADAM7_uc003xec.3_Frame_Shift_Del_p.I364fs NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 592 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATGCAAAACTATTTTTTTATA 0.418 ASPH 444 broad.mit.edu 37 8 62559385 62559387 + In_Frame_Del DEL TTG TTG - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:62559384_62559386CTTG>C uc003xuj.3 - 5 811_813 c.542_544CAAG>G c.(541-546)caagag>cGag p.181_182QE>R ASPH_uc011leg.2_In_Frame_Del_p.152_153QE>R|ASPH_uc003xuo.2_In_Frame_Del_p.181_182QE>R|ASPH_uc003xul.3_In_Frame_Del_p.167_168QE>R|ASPH_uc011lei.2_In_Frame_Del_p.167_168QE>R|ASPH_uc011lej.2_Intron|ASPH_uc011leh.2_In_Frame_Del_p.167_168QE>R|ASPH_uc003xum.3_In_Frame_Del_p.181_182QE>R|ASPH_uc003xun.3_Intron|ASPH_uc011lek.2_In_Frame_Del_p.181_182QE>R NM_004318 NP_004309 Q12797 ASPH_HUMAN Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA. 181 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TCATCATCCTCTTGTTGTGGTTC 0.404 SULF1 23213 broad.mit.edu 37 8 70488373 70488373 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:70488372_70488372TC>T uc003xyg.2 + 4 901 c.340_340TC>T c.(340-342)tccfs p.S114fs SULF1_uc010lza.1_Frame_Shift_Del_p.S114fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xye.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.S114fs NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 114 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAACTGCTCTTCCCCCTCGTG 0.512 SLCO5A1 81796 broad.mit.edu 37 8 70585215 70585215 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:70585214_70585214CT>C uc003xyl.3 - 9 3144 c.2437_2437AG>G c.(2437-2439)gggfs p.G813fs SLCO5A1_uc010lzb.3_Frame_Shift_Del_p.G758fs|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 813 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CACTGGATCCCTTTTTGCAGG 0.612 KIFC2 90990 broad.mit.edu 37 8 145692659 145692659 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr8:145692658_145692658AG>A uc003zcz.3 + 3 468 c.403_403AG>A c.(403-405)aggfs p.R135fs CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN Homo sapiens kinesin family member C2 (KIFC2), mRNA. 135 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCGAAGCCCCAGGGGGAGGCA 0.612 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr9:35043649_35043649AC>A uc003zvw.3 + 1 1052 c.1023_1023AC>A c.(1021-1023)ccafs p.P341fs C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 341 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCCGATGCCACCCCCCTGCC 0.527 PTCHD3 374308 broad.mit.edu 37 10 27687763 27687763 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:27687762_27687762TA>T uc001itu.2 - 3 1883 c.1765_1765TA>A c.(1765-1767)agafs p.R589fs NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 589 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AAATAGTCTCTAAAAAACAAA 0.368 KIF5B 3799 broad.mit.edu 37 10 32307245 32307245 + Splice_Site DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:32307244_32307244CT>C uc001iwe.4 - 22 2909 c.2439_splice c.e22+1 p.K813_splice NM_004521 NP_004512 P33176 KINH_HUMAN Homo sapiens kinesin family member 5B (KIF5B), mRNA. 813 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) GTTACATTACCTTTTTAACTC 0.368 T """RET, ALK""" NSCLC DDX21 9188 broad.mit.edu 37 10 70733354 70733354 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:70733353_70733353CG>C uc001jov.1 + 9 1691 c.1601_1601CG>C c.(1600-1602)acgfs p.T534fs DDX21_uc001jow.1_Frame_Shift_Del_p.T466fs NM_004728 NP_004719 Q9NR30 DDX21_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA. 534 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCTGGAAGGACGGGGGTGTGC 0.413 SEC24C 9632 broad.mit.edu 37 10 75525560 75525561 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:75525559_75525560T>TC uc001juw.3 + 10 1548_1549 c.1368_1369T>TC c.(1366-1371)gttcccfs p.V456fs SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 ZNF518A 9849 broad.mit.edu 37 10 97916130 97916130 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:97916129_97916129TA>T uc001klp.3 + 5 907 c.50_50TA>T c.(49-51)ttafs p.L17fs ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Frame_Shift_Del_p.L17fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.L17fs NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CAAACTACTTTAAAAAAAGAT 0.284 PWWP2B 170394 broad.mit.edu 37 10 134218255 134218255 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr10:134218254_134218254TC>T uc001lll.4 + 1 279 c.250_250TC>T c.(250-252)tccfs p.S84fs PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 84 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGGGTCCAGCTCCCCCCCTCC 0.746 PTPRJ 5795 broad.mit.edu 37 11 48149450 48149450 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:48149449_48149449CG>C uc001ngp.4 + 6 1566 c.1211_1211CG>C c.(1210-1212)gcgfs p.A404fs PTPRJ_uc001ngo.4_Frame_Shift_Del_p.A404fs NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 404 Fibronectin type-III 4. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ATACATGTGGCGGGGGAGACA 0.532 SLC36A4 120103 broad.mit.edu 37 11 92887401 92887402 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr11:92887400_92887401C>CA uc001pdn.3 - 9 1177_1178 c.1080_1081G>TG c.(1078-1083)tttgtgfs p.F360fs SLC36A4_uc001pdm.3_Frame_Shift_Ins_p.F225fs NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA. 360 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAATATGTCACAAAAATGCCAA 0.302 PKP2 5318 broad.mit.edu 37 12 33031037 33031039 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:33031036_33031038TCTC>T uc001rlj.4 - 2 891_893 c.776_778GAGA>A c.(775-780)gagaac>gAac p.N260del PKP2_uc001rlk.4_In_Frame_Del_p.N260del|PKP2_uc010skj.2_In_Frame_Del_p.N260del NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 260 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GTCAGGTAGTTCTCCTTCTCCAA 0.640 STAT2 6773 broad.mit.edu 37 12 56742817 56742818 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:56742816_56742817T>TG uc001slc.3 - 16 1670_1671 c.1467_1468A>CA c.(1465-1470)cccaagfs p.P489fs STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR NM_005419 NP_005410 P52630 STAT2_HUMAN Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA. 489 JAK-STAT cascade|interspecies interaction between organisms|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 DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 DAO 1610 broad.mit.edu 37 12 109283288 109283289 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr12:109283287_109283288A>AC uc001tnr.4 + 3 1023_1024 c.352_353A>AC c.(352-354)accfs p.T118fs DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript NM_001917 NP_001908 P14920 OXDA_HUMAN Homo sapiens D-amino-acid oxidase (DAO), mRNA. 118 glyoxylate metabolic process peroxisomal matrix D-amino-acid oxidase activity|binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 TCGGAAGCTGACCCCCAGAGAG 0.520 ZC3H13 23091 broad.mit.edu 37 13 46549603 46549604 + Frame_Shift_Ins INS - - CT TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:46549602_46549603G>GCT uc010tfw.1 - 10 2289_2290 c.2283_2284C>AGC c.(2281-2286)gagcgafs p.E761fs ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 761 Arg/Glu-rich. nucleic acid binding|zinc ion binding p.R762*(2)|p.R758fs*104(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) tcccgttctcgctctctctccc 0.520 TDRD3 81550 broad.mit.edu 37 13 61084779 61084780 + Frame_Shift_Ins INS - - GG TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr13:61084778_61084779A>AGG uc001vhz.4 + 9 1539_1540 c.751_752A>AGG c.(751-753)aggfs p.R251fs TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001via.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.3_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.4_Frame_Shift_Ins_p.R250fs NM_001146071 NP_110421 Q9H7E2 TDRD3_HUMAN Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA. 251 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AGGAAAAGGCAGGGGGCGAATA 0.347 SIPA1L1 26037 broad.mit.edu 37 14 72190554 72190555 + Frame_Shift_Ins INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:72190553_72190554G>GA uc001xms.3 + 15 4822_4823 c.4461_4462G>GA c.(4459-4464)tggaaafs p.W1487fs SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.2_Frame_Shift_Ins_p.W941fs NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1487 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGATTGGATGGAAAAAACCCGA 0.500 DYNC1H1 1778 broad.mit.edu 37 14 102445788 102445788 + Frame_Shift_Del DEL T T - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr14:102445787_102445787CT>C uc001yks.2 + 2 640 c.476_476CT>C c.(475-477)cctfs p.P159fs NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 159 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCAGTGGCTCCTTTTTTTAAG 0.413 IDH2 3418 broad.mit.edu 37 15 90631918 90631919 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr15:90631917_90631918T>TC uc002box.3 - 3 521_522 c.435_436A>GA c.(433-438)gggactfs p.G145fs IDH2_uc010uqb.2_Frame_Shift_Ins_p.G93fs|IDH2_uc010uqc.2_Frame_Shift_Ins_p.G15fs NM_002168 NP_002159 P48735 IDHP_HUMAN Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA. 145 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CGGAAGACAGTCCCCCCCAGGA 0.564 M GBM ATP2A1 487 broad.mit.edu 37 16 28913640 28913641 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:28913639_28913640G>GC uc002dro.1 + 16 2640_2641 c.2456_2457G>GC c.(2455-2457)cgcfs p.R819fs NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 819 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ATCATGGACCGCCCCCCCCGGA 0.658 LONP2 83752 broad.mit.edu 37 16 48296693 48296693 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:48296692_48296692CA>C uc002efi.1 + 5 980 c.891_891CA>C c.(889-891)ctcfs p.L297fs MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Frame_Shift_Del_p.L253fs NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 297 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCCACAGACTCAAAAAAATGC 0.353 ZC3H18 124245 broad.mit.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:88694458_88694458AC>A uc010voz.2 + 15 2672 c.2472_2472AC>A c.(2470-2472)gcafs p.A824fs ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 800 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCAGCAGGCACCCCCCGGGC 0.607 CBFA2T3 863 broad.mit.edu 37 16 88967982 88967982 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr16:88967981_88967981TG>T uc002fmm.2 - 1 524 c.235_235CA>A c.(235-237)agcfs p.S79fs CBFA2T3_uc002fml.2_Frame_Shift_Del_p.S18fs|CBFA2T3_uc010cif.1_Frame_Shift_Del_p.S18fs|CBFA2T3_uc002fmn.2_Frame_Shift_Del_p.S79fs NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 79 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GGCGGCATGCTGGGGGGTGTG 0.701 T RUNX1 AML RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 RAB40B 10966 broad.mit.edu 37 17 80615786 80615787 + Frame_Shift_Ins INS - - G rs111549422 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr17:80615785_80615786T>TG uc002kft.3 - 5 916_917 c.790_791A>CA c.(790-792)cagfs p.Q264fs RAB40B_uc002kfs.3_Non-coding_Transcript NM_006822 NP_006813 Q12829 RB40B_HUMAN Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA. 264 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q264P(2)|p.Q264fs*>15(2)|p.P263T(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GGGGGGGCTCTGGGGGGGGCGG 0.569 CTDP1 9150 broad.mit.edu 37 18 77477850 77477850 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr18:77477849_77477849GC>G uc002lnh.2 + 9 2397 c.2250_2250GC>G c.(2248-2250)gtgfs p.V750fs CTDP1_uc002lni.2_Frame_Shift_Del_p.V750fs|CTDP1_uc010drd.2_Frame_Shift_Del_p.V750fs|CTDP1_uc021ult.1_Frame_Shift_Del_p.V631fs NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 750 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GGGAGGGTGTGCCCCCCACCG 0.672 FZR1 51343 broad.mit.edu 37 19 3532525 3532525 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:3532524_3532524CG>C uc010dtk.2 + 9 1152 c.1118_1118CG>C c.(1117-1119)tcgfs p.S373fs FZR1_uc002lxt.2_Frame_Shift_Del_p.S373fs|FZR1_uc002lxv.2_Frame_Shift_Del_p.S284fs NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 373 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTGGCCTCGGGGGGCGGC 0.647 FBN3 84467 broad.mit.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:8196624_8196624GC>G uc002mjf.3 - 13 1821 c.1804_1804GC>C c.(1804-1806)ctgfs p.L602fs NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 602 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTACCGCCAGCCCCCCCAGG 0.677 RYR1 6261 broad.mit.edu 37 19 39068675 39068676 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:39068674_39068675A>AG uc002oit.3 + 97 14419_14420 c.14289_14290A>AG c.(14287-14292)ccagggfs p.P4763fs RYR1_uc002oiu.3_Frame_Shift_Ins_p.P4758fs NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4763 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCCGCCGCCAGGGCTGCTGAC 0.653 SYNGR4 23546 broad.mit.edu 37 19 48879544 48879545 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr19:48879543_48879544T>TC uc002piz.3 + 4 924_925 c.673_674T>TC c.(673-675)tccfs p.S225fs NM_012451 NP_036583 O95473 SNG4_HUMAN Homo sapiens synaptogyrin 4 (SYNGR4), mRNA. 225 integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CGCTCCAAAGTCCCCCCGGCTT 0.530 RALGAPB 57148 broad.mit.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:37146232_37146232AC>A uc002xiw.3 + 7 1392 c.1135_1135AC>A c.(1135-1137)accfs p.T379fs RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 379 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACA 0.443 PTPRT 11122 broad.mit.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:40739002_40739002CG>C uc002xkg.3 - 22 3409 c.3225_3225CG>G c.(3223-3225)ccgfs p.P1075fs PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1075 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.H1075N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCCAGCTTCCGGGGGGTTGA 0.627 PCK1 5105 broad.mit.edu 37 20 56140816 56140817 + Frame_Shift_Ins INS - - GA rs17847705 TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:56140815_56140816C>CGA uc002xyn.4 + 9 1987_1988 c.1824_1825C>CGA c.(1822-1827)atcgagfs p.I608fs PCK1_uc010zzm.2_Frame_Shift_Ins_p.I291fs NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 608 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTGTGAAATCGAGAGAGAGAT 0.465 DIDO1 11083 broad.mit.edu 37 20 61512074 61512074 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr20:61512073_61512073GC>G uc002ydr.2 - 15 5547 c.5235_5235GC>C c.(5233-5235)ggcfs p.G1745fs DIDO1_uc002yds.2_Frame_Shift_Del_p.G1745fs NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1745 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGGGCTGAGAGCCCCCCACTT 0.682 CYYR1 116159 broad.mit.edu 37 21 27840848 27840849 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr21:27840847_27840848A>AG uc002yme.3 - 3 762_763 c.440_441T>CT c.(439-441)cctfs p.P147fs CYYR1_uc002ymd.3_Frame_Shift_Ins_p.P146fs|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 146 Poly-Pro. integral to membrane p.P147T(2) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 CAGGATAAGGAGGGGGTGGAGA 0.535 TSSK2 23617 broad.mit.edu 37 22 19119732 19119732 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:19119731_19119731GC>G uc002zow.2 + 0 1411 c.819_819GC>G c.(817-819)cagfs p.Q273fs DGCR14_uc002zou.3_3'UTR NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA. 273 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CGTGGCTGCAGCCCCCCAAGC 0.622 PI4KA 5297 broad.mit.edu 37 22 21188946 21188947 + Splice_Site INS - - A TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:21188945_21188946T>TA uc002zsz.4 - 3 361 c.100_splice c.e3-1 p.H34_splice PI4KA_uc010gsq.2_Splice_Site_p.H120_splice NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 34 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ATCTTTGTGCtaaaaaataata 0.356 TIMP3 7078 broad.mit.edu 37 22 33255324 33255325 + Frame_Shift_Ins INS - - C TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:33255323_33255324G>GC uc003anb.3 + 4 1781_1782 c.595_596G>GC c.(595-597)gccfs p.A199fs SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA. 199 negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 CCGAGGATGGGCCCCCCCGGAT 0.604 MYH9 4627 broad.mit.edu 37 22 36737462 36737463 + Frame_Shift_Ins INS - - G TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:36737461_36737462A>AG uc003apg.3 - 2 674_675 c.443_444T>CT c.(442-444)cctfs p.P148fs MYH9_uc003aph.1_Frame_Shift_Ins_p.P12fs|MYH9_uc003api.1_Frame_Shift_Ins_p.P148fs NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 148 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CATAGATGTGAGGGGGCATCTC 0.530 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated ZBED4 9889 broad.mit.edu 37 22 50279276 50279276 + Frame_Shift_Del DEL A A - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chr22:50279275_50279275CA>C uc003bix.2 + 1 2435 c.1965_1965CA>C c.(1963-1965)gccfs p.A655fs ZBED4_uc021wrx.1_Frame_Shift_Del_p.A655fs NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 655 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACCCAGTTGCCAAAAAAATCA 0.468 BCORL1 63035 broad.mit.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:129190010_129190010TC>T uc022cdu.1 + 11 5079 c.5035_5035TC>T c.(5035-5037)tccfs p.S1679fs BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 1679 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GGACGACAGATCCCCCCCAGG 0.607 MAGEC1 9947 broad.mit.edu 37 X 140993808 140993810 + In_Frame_Del DEL CTC CTC - rs140674361 byFrequency TCGA-HU-A4G9-01A-11D-A24D-08 TCGA-HU-A4G9-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58d0e07c-dede-4e0a-a7a1-99ed83e47b56 a87e18a7-d785-4228-9b3c-97fa7acb6635 g.chrX:140993807_140993809TCTC>T uc004fbt.3 + 3 941_943 c.617_619TCTC>T c.(616-621)ttctcc>tTcc p.S208del MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 208 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGCCGCTCCTTCTCCTCCACTTT 0.488 HNSCC(15;0.026)