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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TAS1R1 80835 broad.mit.edu 37 1 6639446 6639446 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:6639446C>G uc001ant.2 + 6 2328 c.2328C>G c.(2326-2328)TTC>TTG p.F776L TAS1R1_uc001anu.2_Missense_Mutation_p.F522L|TAS1R1_uc001anv.2_Missense_Mutation_p.S308C|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 776 Helical; Name=6; (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGATCGCCTTCTTCACCACGG 0.577 NaN 0 0 0 0.108266 0 23 78 DNAJC11 55735 broad.mit.edu 37 1 6697333 6697333 + Silent SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:6697333C>A uc001aof.2 - 14 1555 c.1449G>T c.(1447-1449)GTG>GTT p.V483V DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V431V|DNAJC11_uc010nzu.1_Silent_p.V393V NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 483 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CAATCACCTTCACCTTCTCGC 0.562 NaN 1 0 3.28864e-39 0.048971 3.51189e-39 91 117 FBXO42 54455 broad.mit.edu 37 1 16577222 16577222 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:16577222C>G uc001ayg.2 - 10 2313 c.2097G>C c.(2095-2097)CAG>CAC p.Q699H FBXO42_uc001aye.3_Missense_Mutation_p.Q417H|FBXO42_uc001ayf.2_Missense_Mutation_p.Q606H NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 699 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACTTCACATTCTGTTTCTTGT 0.428 NaN 0 0 0 0.048971 0 143 177 FBXO42 54455 broad.mit.edu 37 1 16577397 16577397 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:16577397C>T uc001ayg.2 - 10 2138 c.1922G>A c.(1921-1923)TGC>TAC p.C641Y FBXO42_uc001aye.3_Missense_Mutation_p.C359Y|FBXO42_uc001ayf.2_Missense_Mutation_p.C548Y NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 641 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CATGGGCTTGCAGTTCATACT 0.512 NaN 0 0 0 0.048971 0 165 188 ZBTB40 9923 broad.mit.edu 37 1 22828819 22828819 + Missense_Mutation SNP C C G rs147907060 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:22828819C>G uc001bft.2 + 6 1563 c.1052C>G c.(1051-1053)TCT>TGT p.S351C ZBTB40_uc001bfu.2_Missense_Mutation_p.S351C|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 351 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAGACCTTGTCTGTTCTGTTA 0.453 NaN 0 0 0 0.069234 0 11 17 ZBTB40 9923 broad.mit.edu 37 1 22828866 22828866 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:22828866C>T uc001bft.2 + 6 1610 c.1099C>T c.(1099-1101)CAG>TAG p.Q367* ZBTB40_uc001bfu.2_Nonsense_Mutation_p.Q367*|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 367 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTGTGTAACACAGCTGAGACC 0.488 NaN 0 0 0 0.049695 0 20 20 DHDDS 79947 broad.mit.edu 37 1 26772917 26772917 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:26772917A>T uc001bml.2 + 5 555 c.434A>T c.(433-435)TAC>TTC p.Y145F DHDDS_uc001bmk.2_Missense_Mutation_p.Y145F|DHDDS_uc001bmm.2_Missense_Mutation_p.Y52F|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Missense_Mutation_p.Y145F NM_205861 NP_995583 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase isoform b 145 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(3) 3 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) ACGAAGAACTACAACAAGTAA 0.512 NaN 0 0 0 0.048971 0 69 90 EPB41 2035 broad.mit.edu 37 1 29438918 29438918 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:29438918G>C uc001brm.1 + 18 2461 c.2454G>C c.(2452-2454)AAG>AAC p.K818N EPB41_uc001brg.1_Missense_Mutation_p.K595N|EPB41_uc001brh.1_Missense_Mutation_p.K542N|EPB41_uc001bri.1_Missense_Mutation_p.K729N|EPB41_uc001brj.1_Missense_Mutation_p.K555N|EPB41_uc001brl.1_Missense_Mutation_p.K785N|EPB41_uc009vtl.1_Missense_Mutation_p.K512N|EPB41_uc009vtm.1_Missense_Mutation_p.K397N|EPB41_uc009vtn.1_RNA NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 818 Carboxyl-terminal (CTD). blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GTATTGAAAAGAGAATTGTGA 0.428 NaN 0 0 0 0.045705 0 31 106 HMGB4 127540 broad.mit.edu 37 1 34329950 34329950 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:34329950C>G uc001bxp.2 + 2 1901 c.158C>G c.(157-159)TCA>TGA p.S53* CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 53 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGATCCATCTCAAAGCATGAA 0.413 NaN 0 0 0 0.083992 0 24 115 KDM4A 9682 broad.mit.edu 37 1 44169940 44169940 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:44169940G>A uc001cjx.2 + 22 3260 c.3094G>A c.(3094-3096)GAG>AAG p.E1032K uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 1032 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 GATTTTCACAGAGAAAGAGGT 0.438 NaN 0 0 0 0.048971 0 144 172 ELAVL4 1996 broad.mit.edu 37 1 50610766 50610766 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:50610766C>T uc001csb.2 + 2 415 c.147C>T c.(145-147)ATC>ATT p.I49I ELAVL4_uc001cry.3_Silent_p.I52I|ELAVL4_uc001crz.3_Silent_p.I49I|ELAVL4_uc001csa.3_Silent_p.I66I|ELAVL4_uc001csc.3_Silent_p.I49I|ELAVL4_uc009vyu.2_Silent_p.I54I|ELAVL4_uc010omz.1_Silent_p.I54I NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 49 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CCAACCTCATCGTCAACTATT 0.448 NaN 0 0 0 0.038147 0 8 31 ORC1L 4998 broad.mit.edu 37 1 52863536 52863536 + Splice_Site SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:52863536C>T uc001ctt.2 - 4 443 c.224_splice c.e4-1 p.D75_splice ORC1L_uc010oni.1_Splice_Site_p.D75_splice|ORC1L_uc001ctu.2_Splice_Site_p.D75_splice|ORC1L_uc009vzd.2_Splice_Site NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 GGATCAGAGTCTAGAAAGAAT 0.363 NaN 0 0 0 0.064281 0 34 98 GLIS1 148979 broad.mit.edu 37 1 54060249 54060249 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:54060249C>T uc001cvr.1 - 3 894 c.327G>A c.(325-327)CTG>CTA p.L109L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 109 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GATCTCCCGTCAGAGGGGGGC 0.657 NaN 0 0 0 0.055883 0 19 56 PCSK9 255738 broad.mit.edu 37 1 55523842 55523842 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:55523842C>G uc001cyf.1 + 8 1605 c.1314C>G c.(1312-1314)CCC>CCG p.P438P PCSK9_uc010oom.1_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 438 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 TACTGACCCCCAACCTGGTGG 0.627 NaN 0 0 0 0.0333 0 15 71 ABCA4 24 broad.mit.edu 37 1 94476481 94476481 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:94476481C>T uc001dqh.2 - 40 5693 c.5589G>A c.(5587-5589)GAG>GAA p.E1863E ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E131E NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1863 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAGAGTGCTCCTCACCTGGGC 0.592 NaN 0 0 0 0.038147 0 8 30 ARHGAP29 9411 broad.mit.edu 37 1 94674863 94674863 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:94674863G>A uc001dqj.3 - 4 753 c.384C>T c.(382-384)CTC>CTT p.L128L ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.L128L NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 128 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CTTCCTGGAAGAGATCGTTTT 0.323 NaN 0 0 0 0.024245 0 15 31 AGL 178 broad.mit.edu 37 1 100379088 100379088 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:100379088G>C uc001dsi.1 + 30 4355 c.3955G>C c.(3955-3957)GCT>CCT p.A1319P AGL_uc001dsj.1_Missense_Mutation_p.A1319P|AGL_uc001dsk.1_Missense_Mutation_p.A1319P|AGL_uc001dsl.1_Missense_Mutation_p.A1319P|AGL_uc001dsm.1_Missense_Mutation_p.A1303P|AGL_uc001dsn.1_Missense_Mutation_p.A1302P NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1319 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTCAGGAAAGGCTATAAAGGT 0.294 NaN 0 0 0 0.069234 0 8 25 AMY2A 279 broad.mit.edu 37 1 104160582 104160582 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:104160582C>T uc001dut.2 + 2 239 c.175C>T c.(175-177)CCA>TCA p.P59S AMY2A_uc010ouq.1_Missense_Mutation_p.P59S NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 59 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) GTAGGTCTCTCCACCAAATGA 0.333 NaN 0 0 0 0.058154 0 10 45 NUDT17 200035 broad.mit.edu 37 1 145586854 145586854 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:145586854G>A uc001eoe.2 - 7 842 c.834C>T c.(832-834)GTC>GTT p.V278V NBPF10_uc001emp.3_Intron NM_001012758 NP_001012776 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety 278 hydrolase activity|metal ion binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCAGTGCTGACTCTCTCTT 0.547 NaN 0 0 0 0.048971 0 294 465 SV2A 9900 broad.mit.edu 37 1 149885327 149885327 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:149885327G>T uc001etg.2 - 2 557 c.66C>A c.(64-66)GTC>GTA p.V22V SV2A_uc001eth.2_Silent_p.V22V NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 22 Cytoplasmic (Potential).|Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATGCTTTTTGACTTCCTTAG 0.552 NaN 1 0 8.39805e-80 0.048971 9.0628e-80 130 181 SCNM1 79005 broad.mit.edu 37 1 151138954 151138954 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:151138954G>A uc001ewz.2 + 2 171 c.59G>A c.(58-60)AGA>AAA p.R20K LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.R20K|SCNM1_uc009wmn.2_RNA NM_024041 NP_076946 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 20 Bipartite nuclear localization signal (Potential). mRNA processing|RNA splicing nucleus metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAAAAGAAGAGTCGGGGAC 0.527 NaN 0 0 0 0.09319 0 9 61 HRNR 388697 broad.mit.edu 37 1 152188121 152188121 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:152188121G>T uc001ezt.1 - 3 6060 c.5984C>A c.(5983-5985)TCT>TAT p.S1995Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1995 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGAGCGAGACTCTCGGTG 0.572 NaN 1 0 5.43694e-19 0.080422 5.74601e-19 22 404 GATAD2B 57459 broad.mit.edu 37 1 153800712 153800712 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:153800712C>T uc001fdb.3 - 2 356 c.112G>A c.(112-114)GAG>AAG p.E38K NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 38 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCCATGGCCTCATGCCCCTCC 0.502 NaN 0 0 0 0.048971 0 200 330 DCST1 149095 broad.mit.edu 37 1 155020372 155020372 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155020372C>G uc001fgn.1 + 15 1818 c.1722C>G c.(1720-1722)CTC>CTG p.L574L DCST1_uc010pes.1_Silent_p.L549L|uc001fgo.2_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 574 Helical; (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCTACCGACTCCGGAGGGTCA 0.607 NaN 0 0 0 0.047766 0 8 76 TRIM46 80128 broad.mit.edu 37 1 155152267 155152267 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155152267G>A uc001fhs.1 + 8 1528 c.1445G>A c.(1444-1446)CGG>CAG p.R482Q RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R482Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R356Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R459Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R469Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R469Q|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 482 Fibronectin type-III. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCTGGCAGCGGCGGGAGGAG 0.687 NaN 0 0 0 0.038147 0 6 18 IQGAP3 128239 broad.mit.edu 37 1 156497752 156497752 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:156497752G>A uc001fpf.2 - 37 4849 c.4774C>T c.(4774-4776)CAC>TAC p.H1592Y NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1592 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCTGATAGTGAAGCTGAAAT 0.527 NaN 0 0 0 0.048971 0 50 51 DDR2 4921 broad.mit.edu 37 1 162725538 162725538 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:162725538A>G uc001gcf.2 + 8 1115 c.650A>G c.(649-651)TAT>TGT p.Y217C DDR2_uc001gcg.2_Missense_Mutation_p.Y217C NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 217 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GATTCTGTCTATGATGGAGCT 0.403 NaN 0 0 0 0.080422 0 35 28 TPR 7175 broad.mit.edu 37 1 186304579 186304579 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:186304579G>A uc001grv.2 - 34 5099 c.4802C>T c.(4801-4803)GCG>GTG p.A1601V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1601 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGACTTTAGCGCAGTAATGCG 0.423 NaN T NTRK1 papillary thyroid 0 0 0 0.021553 0 6 31 SYT2 127833 broad.mit.edu 37 1 202571539 202571539 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:202571539C>T uc001gye.2 - 5 793 c.600G>A c.(598-600)CTG>CTA p.L200L SYT2_uc010pqb.1_Silent_p.L200L|SYT2_uc009xaf.2_Silent_p.L30L NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 200 Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) AGGCAGGGTTCAGTGTCTTCC 0.517 NaN 0 0 0 0.048971 0 159 79 CENPF 1063 broad.mit.edu 37 1 214794110 214794110 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:214794110C>T uc001hkm.2 + 6 860 c.686C>T c.(685-687)TCA>TTA p.S229L NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 229 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGTCATCTTTCATCTAATTCT 0.458 NaN 0 0 0 0.048971 0 67 36 HHIPL2 79802 broad.mit.edu 37 1 222713588 222713588 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:222713588G>T uc001hnh.1 - 4 1272 c.1214C>A c.(1213-1215)TCT>TAT p.S405Y NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 405 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCCTGGCTCAGAAACAAATGG 0.587 NaN 1 0 1.00246e-47 0.048971 1.07332e-47 77 35 ZP4 57829 broad.mit.edu 37 1 238048519 238048519 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:238048519G>A uc001hym.2 - 9 1257 c.1257C>T c.(1255-1257)ATC>ATT p.I419I LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 419 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGAAGGTGAAGATGCTGAAGC 0.547 NaN 0 0 0 0.11126 0 42 18 ZNF670 93474 broad.mit.edu 37 1 247200919 247200919 + Silent SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:247200919C>A uc001icd.1 - 4 1173 c.1002G>T c.(1000-1002)GTG>GTT p.V334V ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CATAAGGTTTCACTCCAGTGT 0.408 NaN 1 0 1.79992e-35 0.048971 1.9171e-35 93 126 OR2G6 391211 broad.mit.edu 37 1 248685406 248685406 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:248685406C>T uc001ien.1 + 1 459 c.459C>T c.(457-459)CTC>CTT p.L153L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGCGGCCTCATCACCTCCC 0.572 NaN 0 0 0 0.076483 0 23 16 ADARB2 105 broad.mit.edu 37 10 1405328 1405328 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:1405328C>G uc009xhq.2 - 3 1346 c.972G>C c.(970-972)AAG>AAC p.K324N NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 324 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGGCCAGCTTCTTGCTGCGCC 0.721 NaN 0 0 0 0.058154 0 9 12 KIAA1217 56243 broad.mit.edu 37 10 24833013 24833013 + Missense_Mutation SNP A A C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:24833013A>C uc001iru.3 + 19 5217 c.4814A>C c.(4813-4815)TAT>TCT p.Y1605S KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.Y1288S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.Y441S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1605 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GTGGTAGTCTATGAAGAAGAG 0.468 NaN 0 0 0 0.039052 0 40 80 GPR158 57512 broad.mit.edu 37 10 25886754 25886754 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:25886754G>T uc001isj.2 + 11 2259 c.2199G>T c.(2197-2199)ATG>ATT p.M733I GPR158_uc001isk.2_Missense_Mutation_p.M108I NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 733 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GAAAGAAGATGATCACAAACA 0.448 NaN 1 0 0.000151284 0.105934 0.000153157 14 31 EPC1 80314 broad.mit.edu 37 10 32635714 32635714 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:32635714C>T uc001iwg.1 - 1 400 c.130G>A c.(130-132)GGA>AGA p.G44R EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Missense_Mutation_p.G44R NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 44 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) TTCTCCATTCCGGTGGGCATC 0.647 NaN OREG0020115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.092188 0 38 79 FAM21C 253725 broad.mit.edu 37 10 46250443 46250443 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:46250443G>C uc001jcu.2 + 15 1399 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q FAM21C_uc001jcs.1_Missense_Mutation_p.E379Q|FAM21C_uc001jct.2_Missense_Mutation_p.E434Q|FAM21C_uc010qfi.1_Missense_Mutation_p.E410Q|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 434 ovary(1) 1 ACAGAAGCCTGAGCAGCCCAC 0.493 NaN 0 0 0 0.024245 0 8 25 ANK3 288 broad.mit.edu 37 10 61830487 61830487 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:61830487C>G uc001jky.2 - 37 10344 c.10152G>C c.(10150-10152)CAG>CAC p.Q3384H 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 3384 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGTTCCCATTCTGGGCAATTT 0.463 NaN 0 0 0 0.020292 0 13 41 ZNF518A 9849 broad.mit.edu 37 10 97919969 97919969 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:97919969G>C uc001klp.2 + 6 4747 c.3890G>C c.(3889-3891)AGA>ACA p.R1297T ZNF518A_uc001klo.1_Missense_Mutation_p.R767T|ZNF518A_uc001klq.2_Missense_Mutation_p.R1297T|ZNF518A_uc001klr.2_Missense_Mutation_p.R1297T NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ACATTGCATAGAAAGTGTAAA 0.383 NaN 0 0 0 0.009096 0 3 6 MUC5B 727897 broad.mit.edu 37 11 1155713 1155713 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:1155713G>C uc009ycr.1 + 5 527 c.401G>C c.(400-402)AGC>ACC p.S134T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCACGCTGAGCAGGGTCCTC 0.637 NaN 0 0 0 0.105934 0 12 14 OR56A5 390084 broad.mit.edu 37 11 5988888 5988888 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:5988888G>C uc010qzu.1 - 1 837 c.837C>G c.(835-837)CTC>CTG p.L279L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN olfactory receptor, family 56, subfamily A, 279 Helical; Name=7; (Potential). integral to membrane|plasma membrane olfactory receptor activity 0 GCAGGATGTTGAGCAGGATGG 0.527 NaN 0 0 0 0.009096 0 4 11 CCDC73 493860 broad.mit.edu 37 11 32624470 32624470 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:32624470G>C uc001mtv.2 - 18 3171 c.3127C>G c.(3127-3129)CTC>GTC p.L1043V NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 1043 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTCGTAATGAGGCTCTGCCAG 0.368 NaN 0 0 0 0.048971 0 48 38 NUP160 23279 broad.mit.edu 37 11 47806511 47806511 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:47806511C>G uc001ngm.2 - 33 4038 c.3953G>C c.(3952-3954)GGA>GCA p.G1318A NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 1318 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 CAGAGGCACTCCATGAGACAA 0.398 NaN 0 0 0 0.048971 0 75 54 OR4A47 403253 broad.mit.edu 37 11 48511051 48511051 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:48511051C>G uc010rhx.1 + 1 707 c.707C>G c.(706-708)TCA>TGA p.S236* NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAAGCCCTCTCAACCTGCAGT 0.433 NaN 0 0 0 0.105934 0 14 27 FOLH1 2346 broad.mit.edu 37 11 49176030 49176030 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:49176030G>A uc001ngy.2 - 16 1899 c.1638C>T c.(1636-1638)TTC>TTT p.F546F FOLH1_uc001ngx.2_5'UTR|FOLH1_uc001ngz.2_Silent_p.F546F|FOLH1_uc009yly.2_Silent_p.F531F|FOLH1_uc009ylz.2_Silent_p.F531F|FOLH1_uc009yma.2_Silent_p.F238F NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 546 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) GATAGCCGCTGAATTTGTTTG 0.333 NaN 0 0 0 0.009096 0 3 21 OR4C6 219432 broad.mit.edu 37 11 55433450 55433450 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:55433450G>T uc001nht.3 + 3 1073 c.808G>T c.(808-810)GCT>TCT p.A270S OR4C6_uc010rik.1_Missense_Mutation_p.A270S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 270 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CAAGGCAATGGCTGTGTCAGA 0.463 NaN 1 0 1.3612e-06 0.024245 1.39183e-06 15 9 SLC43A3 29015 broad.mit.edu 37 11 57193532 57193532 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:57193532C>T uc001nkg.2 - 3 524 c.114G>A c.(112-114)AAG>AAA p.K38K PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Silent_p.K38K|SLC43A3_uc010rjr.1_Silent_p.K38K|SLC43A3_uc009yme.2_Silent_p.K38K|SLC43A3_uc001nki.2_Silent_p.K38K|SLC43A3_uc009ymf.1_Silent_p.K38K|SLC43A3_uc010rjs.1_Silent_p.K38K|SLC43A3_uc009ymg.1_Silent_p.K38K NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 38 transmembrane transport integral to membrane p.K38K(1) central_nervous_system(1) 1 AATCTTCATTCTTGAAGACAA 0.552 NaN 0 0 0 0.048971 0 61 56 OR4D6 219983 broad.mit.edu 37 11 59224919 59224919 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:59224919G>A uc010rku.1 + 1 486 c.486G>A c.(484-486)CTG>CTA p.L162L NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGGTAATTCTGATGCTTCCAT 0.517 NaN 0 0 0 0.09836 0 44 78 C11orf85 283129 broad.mit.edu 37 11 64708119 64708119 + Splice_Site SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:64708119C>G uc001ocb.1 - 8 548 c.474_splice c.e8-1 p.R158_splice C11orf85_uc001occ.1_Splice_Site|C11orf85_uc001ocd.1_Splice_Site_p.N102_splice NM_001037225 NP_001032302 Q3KP22 CK085_HUMAN hypothetical protein LOC283129 0 TTTCCCTATTCTGTTAAAAAG 0.413 NaN 0 0 0 0.048971 0 64 59 SUV420H1 51111 broad.mit.edu 37 11 67926623 67926623 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:67926623G>T uc001onm.1 - 11 1446 c.1190C>A c.(1189-1191)TCT>TAT p.S397Y SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.S225Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.S157Y NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GCCAACTGAAGATTTTCGGTT 0.403 NaN 1 0 2.89027e-11 0.069288 3.00794e-11 21 51 FOLH1B 219595 broad.mit.edu 37 11 89424064 89424064 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:89424064C>T uc001pda.2 + 11 1240 c.714C>T c.(712-714)TTC>TTT p.F238F NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 238 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 CAAACAAATTCAGCGGCTATC 0.328 NaN 0 0 0 0.021553 0 3 31 AMOTL1 154810 broad.mit.edu 37 11 94533316 94533316 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:94533316G>A uc001pfb.2 + 3 1130 c.960G>A c.(958-960)ATG>ATA p.M320I AMOTL1_uc001pfc.2_Missense_Mutation_p.M270I NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 320 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCAAGCAAATGATGTCCCCAG 0.602 NaN 0 0 0 0.039052 0 45 106 TRPC6 7225 broad.mit.edu 37 11 101375138 101375138 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:101375138C>G uc001pgk.3 - 2 987 c.562G>C c.(562-564)GAA>CAA p.E188Q TRPC6_uc009ywy.2_Missense_Mutation_p.E188Q|TRPC6_uc009ywz.1_Missense_Mutation_p.E188Q NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 188 Cytoplasmic (Potential).|ANK 3. axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTCTTGCCTTCAGCAAAAGCC 0.458 NaN 0 0 0 0.024245 0 16 11 PVRL1 5818 broad.mit.edu 37 11 119548477 119548477 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:119548477G>A uc001pwv.2 - 3 693 c.521C>T c.(520-522)TCA>TTA p.S174L PVRL1_uc001pwu.1_Missense_Mutation_p.S174L|PVRL1_uc001pww.2_Missense_Mutation_p.S174L NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 174 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCCATTGGCTGAGGTGCAGGT 0.577 NaN 0 0 0 0.09836 0 36 28 ARHGAP32 9743 broad.mit.edu 37 11 128839644 128839644 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:128839644C>T uc009zcp.2 - 22 5422 c.5422G>A c.(5422-5424)GAA>AAA p.E1808K ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E767K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1459K NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1808 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TCCTTTCCTTCTGCCACTGAG 0.567 NaN 0 0 0 0.048971 0 61 32 ERC1 23085 broad.mit.edu 37 12 1213916 1213916 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:1213916G>A uc001qjb.2 + 4 1328 c.1087G>A c.(1087-1089)GAG>AAG p.E363K ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E363K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E363K|ERC1_uc010sdv.1_Missense_Mutation_p.E139K|ERC1_uc009zdp.2_5'UTR NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 363 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TTTTCTACAGGAGATGCATCG 0.413 NaN 0 0 0 0.041601 0 26 111 FOXM1 2305 broad.mit.edu 37 12 2975580 2975580 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:2975580C>G uc001qlf.2 - 5 1219 c.954G>C c.(952-954)TTG>TTC p.L318F FOXM1_uc001qle.2_Missense_Mutation_p.L318F|FOXM1_uc001qlg.2_Missense_Mutation_p.L318F|FOXM1_uc009zea.2_Missense_Mutation_p.L317F|FOXM1_uc009zeb.2_Missense_Mutation_p.L317F NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 318 Fork-head. cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGTCCAATGTCAAGTAGCGGT 0.507 NaN 0 0 0 0.099896 0 25 76 CD163L1 283316 broad.mit.edu 37 12 7556186 7556186 + Silent SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:7556186A>G uc001qsy.2 - 6 1379 c.1353T>C c.(1351-1353)GAT>GAC p.D451D CD163L1_uc010sge.1_Silent_p.D461D NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 451 SRCR 4.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TTGCTTTTCCATCATATGTGC 0.413 NaN 0 0 0 0.014758 0 4 24 NANOG 79923 broad.mit.edu 37 12 7945759 7945759 + Missense_Mutation SNP T T A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:7945759T>A uc009zfy.1 + 2 581 c.365T>A c.(364-366)CTC>CAC p.L122H NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 122 Homeobox. cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) TACCTCAGCCTCCAGCAGATG 0.443 NaN 0 0 0 0.050027 0 30 28 GPRC5D 55507 broad.mit.edu 37 12 13103173 13103173 + Missense_Mutation SNP C C T rs141265402 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:13103173C>T uc010shp.1 - 1 146 c.146G>A c.(145-147)CGA>CAA p.R49Q NM_018654 NP_061124 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, 49 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TTGGATCTTTCGCATGAGGAA 0.552 NaN 0 0 0 0.069456 0 37 34 ITPR2 3709 broad.mit.edu 37 12 26875357 26875357 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:26875357G>A uc001rhg.2 - 5 915 c.498C>T c.(496-498)TTC>TTT p.F166F ITPR2_uc001rhh.1_Silent_p.F104F|ITPR2_uc001rhi.1_Silent_p.F166F NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 166 MIR 1.|Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCAGTTTCCAGAACGGATGAA 0.388 NaN 0 0 0 0.058154 0 10 21 KIF21A 55605 broad.mit.edu 37 12 39711890 39711890 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:39711890G>A uc001rly.2 - 29 4039 c.3893C>T c.(3892-3894)TCA>TTA p.S1298L KIF21A_uc001rlv.2_Intron|KIF21A_uc001rlw.2_Intron|KIF21A_uc001rlx.2_Missense_Mutation_p.S1285L|KIF21A_uc001rlz.2_Missense_Mutation_p.S1262L|KIF21A_uc010skl.1_Missense_Mutation_p.S1278L|KIF21A_uc001rlu.2_5'UTR NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1298 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CTGCTGAACTGATGTGTTTCC 0.398 NaN 0 0 0 0.0333 0 16 96 TROAP 10024 broad.mit.edu 37 12 49723705 49723705 + Missense_Mutation SNP A A C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:49723705A>C uc001rtx.3 + 12 1397 c.1230A>C c.(1228-1230)AAA>AAC p.K410N TROAP_uc009zlh.2_Missense_Mutation_p.K410N|TROAP_uc001rty.2_Missense_Mutation_p.K118N NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 410 cell adhesion cytoplasm ovary(1) 1 GTTCTGGGAAACCACCGGTGG 0.552 NaN 0 0 0 0.064281 0 11 263 KRT71 112802 broad.mit.edu 37 12 52940119 52940119 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:52940119C>G uc001sao.2 - 7 1346 c.1276G>C c.(1276-1278)GAC>CAC p.D426H NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 426 Coil 2.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) ATCTCCATGTCCAGGGCCAGC 0.667 NaN 0 0 0 0.09319 0 12 86 OR6C6 283365 broad.mit.edu 37 12 55688666 55688666 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:55688666G>A uc010sph.1 - 1 351 c.351C>T c.(349-351)TCC>TCT p.S117S NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 117 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 AGCGGTCATAGGACATGGCAG 0.403 NaN 0 0 0 0.021553 0 6 11 DNAJC14 85406 broad.mit.edu 37 12 56188642 56188642 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:56188642C>T uc001shu.1 - 11 2431 c.2375G>A c.(2374-2376)CGA>CAA p.R792Q SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.R109Q|SARNP_uc001shv.3_Missense_Mutation_p.R109Q NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein Error:Variant_position_missing_in_Q6Y2X3_after_alignment protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TACATTGAATCGTTCAGCCCT 0.428 NaN 0 0 0 0.069234 0 11 20 LGR5 8549 broad.mit.edu 37 12 71833917 71833917 + Silent SNP G G A rs147257938 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:71833917G>A uc001swl.2 + 1 105 c.57G>A c.(55-57)GCG>GCA p.A19A TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Silent_p.A19A|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 19 integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TGCAGCTGGCGACCGGGGGCA 0.682 NaN 0 0 0 0.076483 0 20 42 BTBD11 121551 broad.mit.edu 37 12 108011968 108011968 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:108011968G>A uc001tmk.1 + 10 2786 c.2265G>A c.(2263-2265)GAG>GAA p.E755E BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.E755E|BTBD11_uc001tml.1_Silent_p.E292E NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 755 ANK 4. integral to membrane DNA binding skin(2)|ovary(1) 3 CCCAGCCAGAGAAGGAGAAGA 0.597 NaN 0 0 0 0.058154 0 9 64 UBE3B 89910 broad.mit.edu 37 12 109971290 109971290 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:109971290G>A uc001top.2 + 27 3545 c.2942G>A c.(2941-2943)AGA>AAA p.R981K UBE3B_uc001toq.2_Missense_Mutation_p.R981K|UBE3B_uc001tos.2_Missense_Mutation_p.R408K|UBE3B_uc001tot.2_Missense_Mutation_p.R99K|UBE3B_uc010sxp.1_Missense_Mutation_p.R99K NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 981 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 AGCTGCTCCAGACCCCCGCTC 0.642 NaN 0 0 0 0.048971 0 58 142 CIT 11113 broad.mit.edu 37 12 120263155 120263155 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:120263155C>T uc001txi.1 - 8 824 c.771G>A c.(769-771)CCG>CCA p.P257P CIT_uc001txj.1_Silent_p.P257P NM_007174 NP_009105 O14578 CTRO_HUMAN citron 257 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGGTCCCAATCGGGAGTTTGG 0.493 NaN 0 0 0 0.092188 0 40 64 VPS37B 79720 broad.mit.edu 37 12 123351840 123351840 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:123351840C>T uc001udl.2 - 4 784 c.681G>A c.(679-681)ATG>ATA p.M227I NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 227 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GTCCCGAACTCATGGCCGCAG 0.692 NaN 0 0 0 0.058154 0 6 12 TMEM132D 121256 broad.mit.edu 37 12 130184379 130184379 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:130184379G>C uc009zyl.1 - 2 1272 c.944C>G c.(943-945)TCC>TGC p.S315C NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 315 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCTTCAGTGGAATTTCTGGA 0.493 NaN 0 0 0 0.0918 0 23 80 FLT3 2322 broad.mit.edu 37 13 28589746 28589746 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:28589746C>T uc001urw.2 - 21 2716 c.2634G>A c.(2632-2634)CTG>CTA p.L878L FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 878 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AGATTTCCCACAGTAATATTC 0.552 NaN Mis|O AML|ALL 0 0 0 0.024245 0 14 93 BRCA2 675 broad.mit.edu 37 13 32914733 32914733 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:32914733G>C uc001uub.1 + 11 6468 c.6241G>C c.(6241-6243)GAG>CAG p.E2081Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2081 BRCA2 8. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGGAGTGTTAGAGGAATTTGA 0.353 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.048971 0 56 71 SLC25A15 10166 broad.mit.edu 37 13 41379289 41379289 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:41379289C>A uc001uxn.2 + 4 672 c.350C>A c.(349-351)TCT>TAT p.S117Y SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.S23Y|SUGT1L1_uc001uxo.1_RNA NM_014252 NP_055067 Q9Y619 ORNT1_HUMAN mitochondrial ornithine transporter 1 117 Helical; Name=3; (Potential).|Solcar 2. cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) TCCTTCGCCTCTGCCTTTGCT 0.552 NaN 1 0 9.57592e-29 0.048971 1.01729e-28 31 36 PIBF1 10464 broad.mit.edu 37 13 73590051 73590051 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:73590051G>C uc001vjc.2 + 18 2573 c.2268G>C c.(2266-2268)AAG>AAC p.K756N PIBF1_uc010aep.2_Missense_Mutation_p.K215N NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 756 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAAAGATGAAGACCTAGTGTT 0.348 NaN 0 0 0 0.105934 0 11 45 COL4A1 1282 broad.mit.edu 37 13 110829360 110829360 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:110829360G>A uc001vqw.3 - 34 2863 c.2741C>T c.(2740-2742)TCA>TTA p.S914L COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 914 Triple-helical region. S -> K (in Ref. 8; AA sequence). angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGGGTCCTGAGGAGCCCGG 0.587 NaN 0 0 0 0.0333 0 18 58 RPGRIP1 57096 broad.mit.edu 37 14 21762864 21762864 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:21762864G>C uc001wag.2 + 2 114 c.114G>C c.(112-114)TTG>TTC p.L38F NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 38 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AACCACCCTTGAGCAGGATGA 0.413 NaN 0 0 0 0.034045 0 25 38 HECTD1 25831 broad.mit.edu 37 14 31614067 31614067 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:31614067G>C uc001wrc.1 - 16 3066 c.2577C>G c.(2575-2577)CTC>CTG p.L859L HECTD1_uc001wrd.1_Silent_p.L374L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 859 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) CTATGTTTCTGAGTGTTACCA 0.358 NaN 0 0 0 0.083992 0 24 21 NID2 22795 broad.mit.edu 37 14 52535556 52535556 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:52535556C>G uc001wzo.2 - 1 391 c.157G>C c.(157-159)GAC>CAC p.D53H NID2_uc010tqs.1_Missense_Mutation_p.D53H|NID2_uc010tqt.1_Missense_Mutation_p.D53H|NID2_uc001wzp.2_Missense_Mutation_p.D53H NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 53 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GAGCTTTCGTCGTCGCCTTCC 0.627 NaN 0 0 0 0.099896 0 26 21 KIAA0586 9786 broad.mit.edu 37 14 58949408 58949408 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:58949408C>G uc001xdv.3 + 20 3167 c.2894C>G c.(2893-2895)TCA>TGA p.S965* KIAA0586_uc010trr.1_Nonsense_Mutation_p.S1082*|KIAA0586_uc001xdt.3_Nonsense_Mutation_p.S997*|KIAA0586_uc001xdu.3_Nonsense_Mutation_p.S1026*|KIAA0586_uc010trs.1_Nonsense_Mutation_p.S956*|KIAA0586_uc010trt.1_Nonsense_Mutation_p.S901*|KIAA0586_uc010tru.1_Nonsense_Mutation_p.S901* NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 965 ovary(1) 1 GGGGATGCTTCAACAAATGAA 0.388 NaN 0 0 0 0.043863 0 19 39 SIX4 51804 broad.mit.edu 37 14 61190738 61190738 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:61190738C>G uc001xfc.2 - 1 55 c.55G>C c.(55-57)GAG>CAG p.E19Q SIX4_uc010app.1_Missense_Mutation_p.E11Q NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 19 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATCCCATTCTCTTGCTTGATG 0.532 NaN 0 0 0 0.048971 0 41 62 KCNH5 27133 broad.mit.edu 37 14 63269243 63269243 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:63269243C>G uc001xfx.2 - 9 1677 c.1626G>C c.(1624-1626)CGG>CGC p.R542R KCNH5_uc001xfy.2_Silent_p.R542R|KCNH5_uc001xfz.1_Silent_p.R484R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 542 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TAAAAACCTTCCGGTTTAGAT 0.493 NaN 0 0 0 0.009096 0 4 11 SYNE2 23224 broad.mit.edu 37 14 64586261 64586261 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:64586261G>A uc001xgm.2 + 67 13187 c.12957G>A c.(12955-12957)CTG>CTA p.L4319L SYNE2_uc001xgl.2_Silent_p.L4319L|SYNE2_uc010apy.2_Silent_p.L704L|SYNE2_uc010apz.1_Silent_p.L211L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4319 Cytoplasmic (Potential).|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) CCCTGAAACTGAAAACAGTGA 0.428 NaN 0 0 0 0.041601 0 32 21 PLEKHH1 57475 broad.mit.edu 37 14 68043123 68043123 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:68043123C>G uc001xjl.1 + 17 2506 c.2364C>G c.(2362-2364)CTC>CTG p.L788L PLEKHH1_uc010tsw.1_Silent_p.L356L|PLEKHH1_uc001xjn.1_Silent_p.L303L|PLEKHH1_uc010tsx.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 788 PH 2. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ATACGTGGCTCTACCACCTCA 0.582 NaN 0 0 0 0.043863 0 9 27 NRXN3 9369 broad.mit.edu 37 14 79270112 79270112 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:79270112G>T uc001xun.2 + 6 1566 c.1075G>T c.(1075-1077)GAC>TAC p.D359Y NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D493Y NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 732 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGACTCTGCCGACACCCTGCG 0.572 NaN 1 0 1.5842e-08 0.105934 1.64035e-08 12 21 ASB2 51676 broad.mit.edu 37 14 94405833 94405833 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:94405833G>A uc001ycc.1 - 6 1583 c.1094C>T c.(1093-1095)TCC>TTC p.S365F ASB2_uc001ycb.1_Missense_Mutation_p.S59F|ASB2_uc001ycd.2_Missense_Mutation_p.S413F|ASB2_uc001yce.1_Missense_Mutation_p.S311F NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 365 ANK 10. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GTACAGCGCGGAGCTGCGCCG 0.687 NaN 0 0 0 0.02938 0 6 22 ASPG 374569 broad.mit.edu 37 14 104570652 104570652 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:104570652C>G uc001yoq.1 + 8 825 c.765C>G c.(763-765)TTC>TTG p.F255L ASPG_uc001yoo.1_Missense_Mutation_p.F283L|ASPG_uc001yop.1_Missense_Mutation_p.F255L|ASPG_uc001yor.1_Missense_Mutation_p.F255L NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 255 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 TTCGGGCCTTCTTGCAGCCTC 0.677 NaN 0 0 0 0.047766 0 8 23 TUBGCP5 114791 broad.mit.edu 37 15 22864348 22864348 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:22864348G>A uc001yur.3 + 16 2436 c.2306G>A c.(2305-2307)CGT>CAT p.R769H TUBGCP5_uc001yuq.2_Missense_Mutation_p.R769H NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 769 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GTAGGACAGCGTTATCCTGAA 0.289 NaN 0 0 0 0.02938 0 6 156 TP53BP1 7158 broad.mit.edu 37 15 43783886 43783886 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:43783886G>T uc001zrs.2 - 4 485 c.337C>A c.(337-339)CAG>AAG p.Q113K TP53BP1_uc010udp.1_Missense_Mutation_p.Q113K|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q118K|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q118K|TP53BP1_uc010udq.1_Missense_Mutation_p.Q118K NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 113 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTGTTTGGCTGAGGTAACTGC 0.393 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 1 0 6.04909e-70 0.048971 6.51073e-70 169 335 B2M 567 broad.mit.edu 37 15 45007713 45007713 + Missense_Mutation SNP G G A rs148494241 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:45007713G>A uc001zuc.2 + 2 220 c.160G>A c.(160-162)GAC>AAC p.D54N B2M_uc010uek.1_Missense_Mutation_p.D54N|B2M_uc010bdx.1_Missense_Mutation_p.D54N NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 54 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCATCCATCCGACATTGAAGT 0.408 NaN 0 0 0 0.048971 0 65 252 MYO1E 4643 broad.mit.edu 37 15 59502740 59502740 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:59502740G>A uc002aga.2 - 13 1707 c.1335C>T c.(1333-1335)ATC>ATT p.I445I NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 445 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) GGTCACATACGATTTTATTAT 0.348 NaN 0 0 0 0.049695 0 19 128 C15orf59 388135 broad.mit.edu 37 15 74032895 74032895 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:74032895G>C uc002avy.2 - 2 590 c.245C>G c.(244-246)TCT>TGT p.S82C NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 82 pancreas(1) 1 GTCACTGCTAGAGGTGCTGCT 0.587 NaN 0 0 0 0.048971 0 84 385 PML 5371 broad.mit.edu 37 15 74290639 74290639 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:74290639G>C uc002awv.2 + 2 564 c.424G>C c.(424-426)GAG>CAG p.E142Q PML_uc002awm.2_Missense_Mutation_p.E142Q|PML_uc002awl.2_Missense_Mutation_p.E142Q|PML_uc002awj.1_Missense_Mutation_p.E142Q|PML_uc002awk.2_Missense_Mutation_p.E142Q|PML_uc002awn.2_Missense_Mutation_p.E142Q|PML_uc002awo.2_Missense_Mutation_p.E142Q|PML_uc002awp.2_Missense_Mutation_p.E142Q|PML_uc002awq.2_Missense_Mutation_p.E142Q|PML_uc002awr.2_Missense_Mutation_p.E142Q|PML_uc002aws.2_Missense_Mutation_p.E142Q|PML_uc002awt.2_Missense_Mutation_p.E142Q|PML_uc002awu.2_Missense_Mutation_p.E142Q|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E57Q NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 142 B box-type 1; atypical. 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 CTGGTGCTTTGAGTGCGAGCA 0.637 NaN T RARA|PAX5 APL|ALL 0 0 0 0.080935 0 11 46 PTPN9 5780 broad.mit.edu 37 15 75798059 75798059 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:75798059C>G uc002bal.2 - 7 1433 c.925G>C c.(925-927)GAC>CAC p.D309H NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 309 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 CGACGAATGTCTTCATATTCC 0.473 NaN 0 0 0 0.048971 0 110 209 RASGRF1 5923 broad.mit.edu 37 15 79296180 79296180 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:79296180C>T uc002beq.2 - 16 2836 c.2461G>A c.(2461-2463)GAG>AAG p.E821K RASGRF1_uc002bep.2_Missense_Mutation_p.E805K|RASGRF1_uc010blm.1_Missense_Mutation_p.E730K|RASGRF1_uc002ber.3_Missense_Mutation_p.E805K|RASGRF1_uc010unh.1_Missense_Mutation_p.E216K|RASGRF1_uc002beo.2_Missense_Mutation_p.E37K NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 823 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TCGGGCTTCTCAGGGGTCGTA 0.627 NaN 0 0 0 0.064281 0 34 43 ALPK3 57538 broad.mit.edu 37 15 85401089 85401089 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:85401089C>T uc002ble.2 + 6 3893 c.3726C>T c.(3724-3726)CTC>CTT p.L1242L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1242 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCGCCGCCTCACCGGCCTCC 0.692 NaN 0 0 0 0.080935 0 8 17 SYNM 23336 broad.mit.edu 37 15 99671728 99671728 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:99671728G>A uc002bup.2 + 6 3283 c.3163G>A c.(3163-3165)GGA>AGA p.G1055R SYNM_uc002buo.2_Missense_Mutation_p.G1055R|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1055 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 TGAGGAAGGTGGAGCGGAGGC 0.652 NaN 0 0 0 0.024245 0 12 21 WDR90 197335 broad.mit.edu 37 16 703802 703802 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:703802C>T uc002cii.1 + 13 1490 c.1436C>T c.(1435-1437)ACG>ATG p.T479M WDR90_uc002cig.1_Missense_Mutation_p.T479M|WDR90_uc002cih.1_Missense_Mutation_p.T480M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank|WDR90_uc002cil.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 479 WD 2. ovary(1) 1 Hepatocellular(780;0.0218) CACGGGAGGACGGTAACAGGG 0.627 NaN 0 0 0 0.058154 0 9 41 PPL 5493 broad.mit.edu 37 16 4945714 4945714 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:4945714G>A uc002cyd.1 - 10 1066 c.976C>T c.(976-978)CAC>TAC p.H326Y NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 326 Potential.|Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 ACGTCTTCGTGAAACTAGGGG 0.582 NaN 0 0 0 0.048971 0 75 98 ZC3H7A 29066 broad.mit.edu 37 16 11868313 11868313 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:11868313G>A uc002dbk.2 - 8 880 c.682C>T c.(682-684)CAT>TAT p.H228Y ZC3H7A_uc002dbl.2_Missense_Mutation_p.H228Y|ZC3H7A_uc002dbm.1_Missense_Mutation_p.H228Y NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 228 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CCAACTTCATGAGAAAAACTG 0.458 NaN 0 0 0 0.048971 0 48 69 PDILT 204474 broad.mit.edu 37 16 20410611 20410611 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:20410611G>A uc002dhc.1 - 2 235 c.12C>T c.(10-12)CTC>CTT p.L4L NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 4 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GGGGCATCCAGAGTAGGTCCA 0.592 NaN 0 0 0 0.083992 0 21 82 ACSM5 54988 broad.mit.edu 37 16 20430712 20430712 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:20430712C>G uc002dhe.2 + 4 725 c.578C>G c.(577-579)TCA>TGA p.S193* ACSM5_uc002dhd.1_Nonsense_Mutation_p.S193* NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 193 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CTGCTGGTGTCAGACAGCAGT 0.557 NaN 0 0 0 0.043863 0 19 27 PRKCB 5579 broad.mit.edu 37 16 24202490 24202490 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:24202490G>A uc002dmd.2 + 16 1999 c.1802G>A c.(1801-1803)CGG>CAG p.R601Q PRKCB_uc002dme.2_Missense_Mutation_p.R601Q NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 601 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) GCATTTTTCCGGTATATTGAT 0.463 NaN 0 0 0 0.009096 0 3 87 TAOK2 9344 broad.mit.edu 37 16 29999180 29999180 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:29999180G>A uc002dva.1 + 16 4370 c.3587G>A c.(3586-3588)CGG>CAG p.R1196Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R1203Q|TAOK2_uc002dvd.1_Missense_Mutation_p.R1023Q NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 1196 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CGAATCCCCCGGCTACTACCA 0.721 NaN 0 0 0 0.014758 0 3 15 SLC12A3 6559 broad.mit.edu 37 16 56906612 56906612 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:56906612G>C uc010ccm.2 + 8 1038 c.1009G>C c.(1009-1011)GAT>CAT p.D337H SLC12A3_uc002ekd.3_Missense_Mutation_p.D337H|SLC12A3_uc010ccn.2_Missense_Mutation_p.D336H NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 337 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCGGGGTCCAGATGGCACCTT 0.562 NaN 0 0 0 0.11126 0 41 40 MMP15 4324 broad.mit.edu 37 16 58071406 58071406 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:58071406C>G uc002ena.2 + 2 1166 c.193C>G c.(193-195)CAG>GAG p.Q65E NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 65 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 CTACCTGCCTCAGCCCAGCCG 0.453 NaN 0 0 0 0.047766 0 7 15 NDRG4 65009 broad.mit.edu 37 16 58537754 58537754 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:58537754C>G uc002eno.2 + 2 180 c.74C>G c.(73-75)TCC>TGC p.S25C NDRG4_uc002enk.2_Missense_Mutation_p.S57C|NDRG4_uc002enm.2_Missense_Mutation_p.S77C|NDRG4_uc010vif.1_Missense_Mutation_p.S57C|NDRG4_uc010cdk.2_Missense_Mutation_p.S25C|NDRG4_uc010vig.1_Missense_Mutation_p.S55C|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.S43C|NDRG4_uc002enp.2_Missense_Mutation_p.S25C|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 25 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 ATCCGGGGCTCCCCCAAGGGG 0.622 NaN 0 0 0 0.080935 0 10 71 TK2 7084 broad.mit.edu 37 16 66584022 66584022 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:66584022G>C uc002eos.2 - 1 294 c.69C>G c.(67-69)GTC>GTG p.V23V TK2_uc010vip.1_5'Flank|TK2_uc002eor.2_Intron|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_5'UTR|TK2_uc010viq.1_Silent_p.V23V|TK2_uc010vir.1_Silent_p.V23V NM_004614 NP_004605 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial Error:Variant_position_missing_in_O00142_after_alignment pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) CGGCGCGGACGACTGCTAGTC 0.682 NaN 0 0 0 0.049695 0 17 16 EDC4 23644 broad.mit.edu 37 16 67915727 67915727 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:67915727G>C uc002eur.2 + 22 3149 c.2983G>C c.(2983-2985)GAG>CAG p.E995Q EDC4_uc010cer.2_Missense_Mutation_p.E614Q|EDC4_uc002eus.2_Missense_Mutation_p.E725Q|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 995 Potential. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACGTGCCCTTGAGACTCGGCA 0.602 NaN 0 0 0 0.054565 0 33 101 CTRL 1506 broad.mit.edu 37 16 67964633 67964633 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:67964633G>A uc002euw.2 - 4 324 c.314C>T c.(313-315)TCT>TTT p.S105F NM_001907 NP_001898 P40313 CTRL_HUMAN chymotrypsin-like precursor 105 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) ACTCACCCGAGAGACGGACAG 0.607 NaN 0 0 0 0.080422 0 38 147 ZFHX3 463 broad.mit.edu 37 16 72923775 72923775 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:72923775G>C uc002fck.2 - 4 3976 c.3303C>G c.(3301-3303)CTC>CTG p.L1101L ZFHX3_uc002fcl.2_Silent_p.L187L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1101 C2H2-type 9; atypical. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGATGAGGTTGAGCTTGGCCT 0.572 NaN 0 0 0 0.09319 0 12 119 PKD1L2 114780 broad.mit.edu 37 16 81194452 81194452 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:81194452C>A uc002fgh.1 - 22 3536 c.3536G>T c.(3535-3537)AGT>ATT p.S1179I PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1179 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGCTTCAGGACTGGTCAGGTT 0.552 NaN 1 0 4.68919e-08 0.069234 4.84313e-08 9 32 KIAA0182 23199 broad.mit.edu 37 16 85701811 85701811 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:85701811C>G uc002fix.2 + 14 3270 c.3196C>G c.(3196-3198)CCT>GCT p.P1066A KIAA0182_uc002fiw.2_Missense_Mutation_p.P962A|KIAA0182_uc002fiy.2_Missense_Mutation_p.P993A|KIAA0182_uc002fiz.2_Missense_Mutation_p.P208A|KIAA0182_uc010cho.2_Missense_Mutation_p.P246A NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 1066 protein binding large_intestine(3)|ovary(1)|skin(1) 5 CTACAACATTCCTGAGCTGCA 0.637 NaN 0 0 0 0.039052 0 43 109 FANCA 2175 broad.mit.edu 37 16 89805349 89805349 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:89805349G>C uc002fou.1 - 42 4243 c.4201C>G c.(4201-4203)CTT>GTT p.L1401V ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1402C NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1401 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGCAGAAAAAGACGAGCTTTT 0.512 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.048971 0 70 63 C17orf85 55421 broad.mit.edu 37 17 3721711 3721711 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:3721711G>A uc010ckl.1 - 10 1179 c.1156C>T c.(1156-1158)CGG>TGG p.R386W C17orf85_uc002fwr.2_Missense_Mutation_p.R96W|C17orf85_uc002fwq.2_Missense_Mutation_p.R106W NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 386 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GACGCGCTCCGCTCCCGGGGC 0.473 NaN 0 0 0 0.069456 0 33 93 ZNF594 84622 broad.mit.edu 37 17 5085754 5085754 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:5085754C>G uc010cla.1 - 2 1954 c.1798G>C c.(1798-1800)GAA>CAA p.E600Q NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 600 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TTCCCACATTCTTTGCATTCA 0.408 NaN 0 0 0 0.048971 0 175 136 TP53 7157 broad.mit.edu 37 17 7578449 7578449 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:7578449C>T uc002gim.2 - 5 675 c.481G>A c.(481-483)GCC>ACC p.A161T TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.2_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.1_Missense_Mutation_p.A122T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 161 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A161G(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGTAGATGGCCATGGCGCGG 0.632 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.09836 0 40 39 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:16285788C>T uc002gpx.2 + 2 705 c.567C>T c.(565-567)CCC>CCT p.P189P UBB_uc010vwe.1_Silent_p.P113P NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552 NaN 0 0 0 0.004672 0 3 65 CCDC144A 9720 broad.mit.edu 37 17 16623915 16623915 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:16623915C>T uc002gqk.1 + 8 1910 c.1834C>T c.(1834-1836)CAC>TAC p.H612Y CCDC144A_uc002gql.1_Missense_Mutation_p.H82Y|LOC162632_uc010cpj.1_RNA NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 612 0 TGAATTGTCTCACTCTGTTTA 0.373 NaN 0 0 0 0.02938 0 5 40 DRG2 1819 broad.mit.edu 37 17 18004839 18004839 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18004839G>C uc002gsh.1 + 8 719 c.664G>C c.(664-666)GAC>CAC p.D222H DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.D222H NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 222 signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) TTTCCGAGAAGACTGCTCCCC 0.607 NaN 0 0 0 0.054565 0 31 45 DRG2 1819 broad.mit.edu 37 17 18005268 18005268 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18005268G>A uc002gsh.1 + 9 818 c.763G>A c.(763-765)GAG>AAG p.E255K DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E255K NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 255 signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) CTCCATGGAAGAGGTGGACCG 0.567 NaN 0 0 0 0.038395 0 16 8 CCDC144B 284047 broad.mit.edu 37 17 18498091 18498091 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18498091G>A uc002gub.1 - 8 1919 c.1834C>T c.(1834-1836)CAC>TAC p.H612Y CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 TAAACAGAGTGAGACAATTCA 0.373 NaN 0 0 0 0.038147 0 6 50 SSH2 85464 broad.mit.edu 37 17 27975200 27975200 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:27975200C>G uc002heo.1 - 13 1308 c.1308G>C c.(1306-1308)ATG>ATC p.M436I SSH2_uc010wbh.1_Missense_Mutation_p.M463I|SSH2_uc002hep.1_Missense_Mutation_p.M436I NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 436 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CCAGTTGTCTCATGAAGCTTG 0.458 NaN 0 0 0 0.048971 0 70 151 AMAC1 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:33520323C>T uc002hjd.2 - 1 1090 c.1004G>A c.(1003-1005)AGG>AAG p.R335K NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 335 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CTCCTCCACCCTCCCTGTCCT 0.557 NaN 0 0 0 0.004672 0 3 80 ERBB2 2064 broad.mit.edu 37 17 37868216 37868216 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:37868216C>G uc002hso.2 + 8 1175 c.937C>G c.(937-939)CTC>GTC p.L313V ERBB2_uc002hsm.2_Missense_Mutation_p.L283V|ERBB2_uc010cwa.2_Missense_Mutation_p.L298V|ERBB2_uc002hsp.2_Missense_Mutation_p.L116V|ERBB2_uc010cwb.2_Missense_Mutation_p.L313V|ERBB2_uc010wek.1_Missense_Mutation_p.L37V|ERBB2_uc002hsl.2_Missense_Mutation_p.L283V|ERBB2_uc002hsn.1_Missense_Mutation_p.L313V NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 313 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCCTGCACCCTCGTCTGCCC 0.572 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.048971 0 837 31 ANKRD40 91369 broad.mit.edu 37 17 48776867 48776867 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:48776867G>C uc002iso.2 - 3 926 c.671C>G c.(670-672)CCG>CGG p.P224R NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 224 Pro-rich. 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TGGCTTGGACGGGACAGAAGA 0.527 NaN 0 0 0 0.054565 0 27 94 TEX14 56155 broad.mit.edu 37 17 56671019 56671019 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:56671019G>A uc010dcz.1 - 15 2609 c.2491C>T c.(2491-2493)CCG>TCG p.P831S TEX14_uc002iwr.1_Missense_Mutation_p.P825S|TEX14_uc002iws.1_Missense_Mutation_p.P825S|TEX14_uc010dda.1_Missense_Mutation_p.P605S NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 831 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAAAGAGTCGGCAGCTTAAAA 0.408 NaN 0 0 0 0.009096 0 4 81 KCNH6 81033 broad.mit.edu 37 17 61611504 61611504 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:61611504C>T uc002jay.2 + 5 1013 c.933C>T c.(931-933)TTC>TTT p.F311F KCNH6_uc002jax.1_Silent_p.F311F|KCNH6_uc010wpl.1_Silent_p.F188F|KCNH6_uc010wpm.1_Silent_p.F311F|KCNH6_uc002jaz.1_Silent_p.F311F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 311 Helical; Name=Segment S2; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) ACATCATGTTCGTCGTGGACA 0.587 NaN 0 0 0 0.099896 0 24 353 ABCA10 10349 broad.mit.edu 37 17 67178946 67178946 + Nonsense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:67178946G>C uc010dfa.1 - 22 3380 c.2501C>G c.(2500-2502)TCA>TGA p.S834* ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Nonsense_Mutation_p.S435* NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 834 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TTCAATATTTGATCCTAACAT 0.333 NaN 0 0 0 0.038147 0 8 47 DNAI2 64446 broad.mit.edu 37 17 72297252 72297252 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:72297252A>G uc002jkf.2 + 8 1031 c.932A>G c.(931-933)AAG>AGG p.K311R DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 311 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 ATCACCAAGAAGGAACAGTTG 0.547 NaN Kartagener_syndrome 0 0 0 0.048971 0 103 172 EIF4A3 9775 broad.mit.edu 37 17 78118038 78118038 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:78118038C>G uc010wuc.1 - 3 248 c.175G>C c.(175-177)GAA>CAA p.E59Q EIF4A3_uc002jxs.2_Missense_Mutation_p.E59Q NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 59 Q motif. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GATGGTTTTTCAAAACCTGCA 0.378 NaN 0 0 0 0.02938 0 7 70 AZI1 22994 broad.mit.edu 37 17 79164797 79164797 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79164797C>G uc002jzp.1 - 23 3062 c.2862G>C c.(2860-2862)CTG>CTC p.L954L AZI1_uc002jzm.1_Silent_p.L386L|AZI1_uc002jzn.1_Silent_p.L951L|AZI1_uc002jzo.1_Silent_p.L915L|AZI1_uc010wum.1_Silent_p.L918L|AZI1_uc002jzq.2_Silent_p.L102L NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 954 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) GCTGGCCCTTCAGCTCCGAGC 0.677 NaN 0 0 0 0.020292 0 13 55 AZI1 22994 broad.mit.edu 37 17 79164838 79164838 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79164838C>G uc002jzp.1 - 23 3021 c.2821G>C c.(2821-2823)GAG>CAG p.E941Q AZI1_uc002jzm.1_Missense_Mutation_p.E373Q|AZI1_uc002jzn.1_Missense_Mutation_p.E938Q|AZI1_uc002jzo.1_Missense_Mutation_p.E902Q|AZI1_uc010wum.1_Missense_Mutation_p.E905Q|AZI1_uc002jzq.2_Missense_Mutation_p.E89Q NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 941 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) TCCGACTGCTCCAGCTCGGAG 0.662 NaN 0 0 0 0.049695 0 20 76 AZI1 22994 broad.mit.edu 37 17 79165108 79165108 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79165108C>T uc002jzp.1 - 22 2859 c.2659G>A c.(2659-2661)GAG>AAG p.E887K AZI1_uc002jzm.1_Missense_Mutation_p.E319K|AZI1_uc002jzn.1_Missense_Mutation_p.E884K|AZI1_uc002jzo.1_Missense_Mutation_p.E848K|AZI1_uc010wum.1_Missense_Mutation_p.E851K|AZI1_uc002jzq.2_Missense_Mutation_p.E35K NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 887 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) TCCCTCAGCTCCTGTTCCCGG 0.677 NaN 0 0 0 0.050027 0 33 94 AZI1 22994 broad.mit.edu 37 17 79165121 79165121 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79165121C>T uc002jzp.1 - 22 2846 c.2646G>A c.(2644-2646)CTG>CTA p.L882L AZI1_uc002jzm.1_Silent_p.L314L|AZI1_uc002jzn.1_Silent_p.L879L|AZI1_uc002jzo.1_Silent_p.L843L|AZI1_uc010wum.1_Silent_p.L846L|AZI1_uc002jzq.2_Silent_p.L30L NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 882 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) GTTCCCGGTTCAGCAGCCACG 0.701 NaN 0 0 0 0.083992 0 23 77 FASN 2194 broad.mit.edu 37 17 80053331 80053331 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:80053331G>A uc002kdu.2 - 3 262 c.145C>T c.(145-147)CGG>TGG p.R49W NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 49 Beta-ketoacyl synthase (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) CCGGACCGCCGGGGCAGGCCG 0.652 NaN 0 0 0 0.074837 0 32 29 ZNF519 162655 broad.mit.edu 37 18 14105771 14105771 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:14105771C>G uc002kst.1 - 3 921 c.768G>C c.(766-768)AAG>AAC p.K256N ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTTAATTATCTTATGTCCCT 0.328 NaN 0 0 0 0.020292 0 15 10 ELP2 55250 broad.mit.edu 37 18 33722264 33722264 + Silent SNP C C G rs142567516 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:33722264C>G uc002kzk.1 + 7 619 c.609C>G c.(607-609)CTC>CTG p.L203L ELP2_uc010xcg.1_Silent_p.L268L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.L177L|ELP2_uc010xch.1_Silent_p.L242L|ELP2_uc002kzn.1_Silent_p.L177L|ELP2_uc002kzo.1_Intron NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 203 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TGCTTTCTCTCTGTGGACATG 0.373 NaN 0 0 0 0.0333 0 16 85 KIAA1632 57724 broad.mit.edu 37 18 43450556 43450556 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:43450556C>G uc002lbm.2 - 36 6301 c.6201G>C c.(6199-6201)CAG>CAC p.Q2067H KIAA1632_uc010xcq.1_Missense_Mutation_p.Q621H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q942H NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2067 autophagy 0 CCATGAGCATCTGGTCAGGGT 0.517 NaN 0 0 0 0.058154 0 9 30 TXNL1 9352 broad.mit.edu 37 18 54291545 54291545 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:54291545C>G uc002lgg.2 - 3 592 c.343G>C c.(343-345)GAG>CAG p.E115Q TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.E115Q|TXNL1_uc002lgj.1_Missense_Mutation_p.E115Q NM_004786 NP_004777 O43396 TXNL1_HUMAN thioredoxin-like 1 115 PITH. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity 0 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TCTGTGTCCTCATTGCTTCCA 0.333 NaN 0 0 0 0.054565 0 34 143 ZNF555 148254 broad.mit.edu 37 19 2853300 2853300 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:2853300G>A uc002lwo.2 + 4 1326 c.1237G>A c.(1237-1239)GGA>AGA p.G413R ZNF555_uc002lwn.3_Missense_Mutation_p.G412R NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 413 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) CTCCTTTCGAGGACACATGAG 0.473 NaN 0 0 0 0.009096 0 4 62 MUC16 94025 broad.mit.edu 37 19 9067796 9067796 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:9067796C>T uc002mkp.2 - 3 19854 c.19650G>A c.(19648-19650)GTG>GTA p.V6550V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6552 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 CTGTGGTCTTCACTAGGCCAG 0.483 NaN 0 0 0 0.049695 0 20 15 ICAM1 3383 broad.mit.edu 37 19 10394842 10394842 + Missense_Mutation SNP G G C rs139628843 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:10394842G>C uc002mnq.2 + 4 1090 c.771G>C c.(769-771)CAG>CAC p.Q257H ICAM1_uc010xle.1_Missense_Mutation_p.Q35H|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 257 Ig-like C2-type 3.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGGGGGACCAGAGGTTGAACC 0.657 NaN 0 0 0 0.02938 0 6 75 SMARCA4 6597 broad.mit.edu 37 19 11123726 11123726 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:11123726C>T uc002mqf.3 + 16 2660 c.2376C>T c.(2374-2376)CTC>CTT p.L792L SMARCA4_uc010dxp.2_Silent_p.L792L|SMARCA4_uc010dxo.2_Silent_p.L792L|SMARCA4_uc002mqg.1_Silent_p.L792L|SMARCA4_uc010dxq.2_Silent_p.L792L|SMARCA4_uc010dxr.2_Silent_p.L792L|SMARCA4_uc002mqj.3_Silent_p.L792L|SMARCA4_uc010dxs.2_Silent_p.L792L|SMARCA4_uc010dxt.1_Silent_p.L12L NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 792 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCATCGCGCTCATCACGTACC 0.582 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.045705 0 31 31 CYP4F12 66002 broad.mit.edu 37 19 15794481 15794481 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:15794481C>T uc002nbl.2 + 7 887 c.826C>T c.(826-828)CGC>TGC p.R276C NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GGAGCGGCGTCGCACCCTCCC 0.532 NaN 0 0 0 0.048971 0 54 118 CYP4F2 8529 broad.mit.edu 37 19 16001184 16001184 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:16001184G>A uc002nbs.1 - 6 635 c.585C>T c.(583-585)ATC>ATT p.I195I CYP4F2_uc010xot.1_Silent_p.I46I|CYP4F2_uc010xou.1_Silent_p.I46I NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 195 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TCATGAGGCTGATGTGCTCAA 0.542 NaN 0 0 0 0.048971 0 68 69 GMIP 51291 broad.mit.edu 37 19 19741332 19741332 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:19741332C>G uc002nnd.2 - 20 2604 c.2487G>C c.(2485-2487)CAG>CAC p.Q829H LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.Q803H|GMIP_uc010xrc.1_Missense_Mutation_p.Q800H NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 829 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 TCTGGTCACTCTGTGGAGTTG 0.542 NaN 0 0 0 0.048971 0 71 46 WDR62 284403 broad.mit.edu 37 19 36562497 36562497 + Missense_Mutation SNP A A G rs146229976 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:36562497A>G uc002odc.2 + 8 1013 c.922A>G c.(922-924)ATC>GTC p.I308V WDR62_uc002odd.2_Missense_Mutation_p.I308V|WDR62_uc002odb.2_Missense_Mutation_p.I308V NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 308 WD 4. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCAGGAGCTCATCTTCTGTGG 0.592 NaN 0 0 0 0.02938 0 7 168 WDR62 284403 broad.mit.edu 37 19 36574043 36574043 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:36574043G>A uc002odc.2 + 11 1541 c.1450G>A c.(1450-1452)GAG>AAG p.E484K WDR62_uc002odd.2_Missense_Mutation_p.E484K NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 484 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCGGGGGAGCGAGAATGGGAC 0.597 NaN 0 0 0 0.004672 0 3 36 ACTN4 81 broad.mit.edu 37 19 39220017 39220017 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:39220017G>A uc002oja.1 + 21 2740 c.2681G>A c.(2680-2682)GGT>GAT p.G894D ACTN4_uc002ojb.1_Missense_Mutation_p.G216D NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 894 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCGTGCCCGGTGCCCTCGAC 0.672 NaN 0 0 0 0.069234 0 10 39 SARS2 54938 broad.mit.edu 37 19 39421110 39421110 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:39421110G>A uc002oka.2 - 1 427 c.267C>T c.(265-267)ATC>ATT p.I89I SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Silent_p.I89I|SARS2_uc002okb.2_Silent_p.I89I|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Silent_p.I89I|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 89 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCGCACTCACGATCGCGGGCA 0.662 NaN OREG0032101|OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.039052 0 39 175 RTN2 6253 broad.mit.edu 37 19 45997499 45997499 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:45997499C>G uc002pcb.2 - 4 967 c.739G>C c.(739-741)GAG>CAG p.E247Q RTN2_uc002pcc.2_Missense_Mutation_p.E247Q|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 247 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GGCTCTCGCTCCAGTGGCCCC 0.577 NaN 0 0 0 0.048971 0 154 78 CGB7 94027 broad.mit.edu 37 19 49558233 49558233 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:49558233G>A uc002pmd.2 - 2 413 c.48C>T c.(46-48)GGC>GGT p.G16G CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Silent_p.G16G NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 16 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) CCCATGTCCCGCCCATGCTCA 0.667 NaN 0 0 0 0.048971 0 61 25 POLD1 5424 broad.mit.edu 37 19 50921177 50921177 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:50921177C>G uc002psb.3 + 27 3353 c.3297C>G c.(3295-3297)TTC>TTG p.F1099L POLD1_uc002psc.3_Missense_Mutation_p.F1099L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.F1125L|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 1099 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGCGGCGCTTCGGACCCCCTG 0.622 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.058154 0 8 11 SIGLEC8 27181 broad.mit.edu 37 19 51957508 51957508 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:51957508C>G uc002pwt.2 - 6 1277 c.1210G>C c.(1210-1212)GAA>CAA p.E404Q SIGLEC8_uc010yda.1_Missense_Mutation_p.E295Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311Q NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 404 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TTTGCATCTTCCATGCCTGTA 0.597 NaN 0 0 0 0.076483 0 21 143 ZNF28 7576 broad.mit.edu 37 19 53303274 53303274 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:53303274C>T uc002qad.2 - 4 1944 c.1824G>A c.(1822-1824)AAG>AAA p.K608K ZNF28_uc002qac.2_Silent_p.K555K|ZNF28_uc010eqe.2_Silent_p.K554K NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 608 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ACTCATTACACTTGTAAGGTT 0.448 NaN 0 0 0 0.048971 0 196 98 GREB1 9687 broad.mit.edu 37 2 11773124 11773124 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:11773124G>A uc002rbk.1 + 28 5226 c.4926G>A c.(4924-4926)GTG>GTA p.V1642V GREB1_uc002rbp.1_Silent_p.V640V NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1642 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTTTCATTGTGATCTCTGATG 0.562 NaN 0 0 0 0.048971 0 47 74 RAD51AP2 729475 broad.mit.edu 37 2 17698327 17698327 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:17698327G>C uc002rcl.1 - 1 1380 c.1356C>G c.(1354-1356)ATC>ATG p.I452M RAD51AP2_uc010exn.1_Missense_Mutation_p.I443M NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 452 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CATATGCATTGATGACTTTTG 0.313 NaN 0 0 0 0.099896 0 27 41 PUM2 23369 broad.mit.edu 37 2 20511319 20511319 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:20511319C>A uc002rds.1 - 4 477 c.454G>T c.(454-456)GAT>TAT p.D152Y PUM2_uc002rdt.1_Missense_Mutation_p.D152Y|PUM2_uc002rdr.2_Missense_Mutation_p.D91Y|PUM2_uc010yjy.1_Missense_Mutation_p.D152Y|PUM2_uc002rdu.1_Missense_Mutation_p.D152Y|PUM2_uc010yjz.1_Missense_Mutation_p.D91Y NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 152 Interaction with SNAPIN. 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) TTAGAATCATCATCATCTCCT 0.378 NaN 1 0 6.00712e-18 0.050027 6.33225e-18 33 65 CRIM1 51232 broad.mit.edu 37 2 36744610 36744610 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:36744610G>C uc002rpd.2 + 12 2170 c.2131G>C c.(2131-2133)GAG>CAG p.E711Q NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 711 VWFC 4.|Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GGTGCTGTGTGAGACAGAGGT 0.582 NaN 0 0 0 0.020292 0 9 95 HAAO 23498 broad.mit.edu 37 2 42995022 42995022 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:42995022A>T uc002rst.3 - 8 752 c.677T>A c.(676-678)GTG>GAG p.V226E NM_012205 NP_036337 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 226 Domain B (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding ovary(1) 1 CCACACGTCCACATTCTGTCT 0.632 NaN 0 0 0 0.048971 0 50 58 PLEKHH2 130271 broad.mit.edu 37 2 43939476 43939476 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:43939476C>T uc010yny.1 + 15 2497 c.2414C>T c.(2413-2415)TCC>TTC p.S805F PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S804F NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 805 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AACCCACTTTCCCTGCAGCCT 0.478 NaN 0 0 0 0.048971 0 51 49 EPAS1 2034 broad.mit.edu 37 2 46608758 46608758 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:46608758G>A uc002ruv.2 + 13 2557 c.2069G>A c.(2068-2070)CGA>CAA p.R690Q EPAS1_uc002ruw.2_Missense_Mutation_p.R156Q NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 690 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TTTGGGGCTCGAGGCCCAGAC 0.597 NaN 0 0 0 0.076483 0 24 62 RPS27A 6233 broad.mit.edu 37 2 55461976 55461976 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:55461976C>G uc010yow.1 + 5 396 c.199C>G c.(199-201)CTT>GTT p.L67V C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.L67V|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA NM_001135592 NP_001129064 P62979 RS27A_HUMAN ubiquitin and ribosomal protein S27a precursor 67 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome ovary(1) 1 GGAGTCTACTCTTCATCTTGT 0.398 NaN 0 0 0 0.043863 0 17 81 C1D 10438 broad.mit.edu 37 2 68273488 68273488 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:68273488A>T uc002sea.3 - 3 275 c.193T>A c.(193-195)TCA>ACA p.S65T C1D_uc002seb.2_Missense_Mutation_p.S65T|C1D_uc002sec.2_Missense_Mutation_p.S65T|C1D_uc010fdc.2_Missense_Mutation_p.S65T NM_173177 NP_775269 Q13901 C1D_HUMAN nuclear DNA-binding protein 65 Required for transcriptional repression (By similarity).|Interaction with NR1D1 (By similarity). apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear exosome (RNase complex)|nucleolus DNA binding|RNA binding 0 CAAAACATTGAATTTAATGTG 0.224 NaN 0 0 0 0.105934 0 13 25 ARID5A 10865 broad.mit.edu 37 2 97216890 97216890 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:97216890C>T uc002swe.2 + 7 725 c.625C>T c.(625-627)CAG>TAG p.Q209* ARID5A_uc010yuq.1_Nonsense_Mutation_p.Q157*|ARID5A_uc002swf.2_Nonsense_Mutation_p.Q45*|ARID5A_uc002swg.2_Nonsense_Mutation_p.Q157* NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 209 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 ACTTCCCAGCCAGGAGCCCCC 0.597 NaN 0 0 0 0.048971 0 73 117 MARCO 8685 broad.mit.edu 37 2 119750864 119750864 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:119750864A>G uc002tln.1 + 16 1549 c.1417A>G c.(1417-1419)AAA>GAA p.K473E MARCO_uc010yyf.1_Missense_Mutation_p.K395E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 473 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGCCCTGTACAAAGTGGGAGC 0.557 NaN 0 0 0 0.048971 0 53 78 GLI2 2736 broad.mit.edu 37 2 121732608 121732608 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:121732608G>C uc010flp.2 + 8 1321 c.1291G>C c.(1291-1293)GAG>CAG p.E431Q GLI2_uc002tmq.1_Missense_Mutation_p.E103Q|GLI2_uc002tmr.1_Missense_Mutation_p.E86Q|GLI2_uc002tmt.3_Missense_Mutation_p.E103Q|GLI2_uc002tmu.3_Missense_Mutation_p.E86Q|GLI2_uc010flo.1_Missense_Mutation_p.E289Q|GLI2_uc002tmw.1_Missense_Mutation_p.E414Q NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 431 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCAGGAGGCTGAGGTGGTCAT 0.577 NaN 0 0 0 0.069456 0 34 59 MKI67IP 84365 broad.mit.edu 37 2 122486097 122486097 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:122486097C>T uc002tnk.2 - 5 657 c.580G>A c.(580-582)GAA>AAA p.E194K uc002tnj.1_RNA NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 194 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 GAAATACTTTCCGTTTTCTGT 0.274 NaN 0 0 0 0.0333 0 14 58 PRPF40A 55660 broad.mit.edu 37 2 153519641 153519641 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:153519641C>T uc002tyh.3 - 20 2156 c.2134G>A c.(2134-2136)GAG>AAG p.E712K PRPF40A_uc002tyg.3_Missense_Mutation_p.E168K|PRPF40A_uc010zcd.1_Missense_Mutation_p.E663K NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 739 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TTCCGAGCCTCTTCTTTTTCT 0.348 NaN 0 0 0 0.058154 0 10 16 LRP2 4036 broad.mit.edu 37 2 170127522 170127522 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:170127522C>T uc002ues.2 - 16 2425 c.2212G>A c.(2212-2214)GGG>AGG p.G738R LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 738 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAAGGATTCCCCGAAACTGGA 0.408 NaN 0 0 0 0.02938 0 6 27 GPR155 151556 broad.mit.edu 37 2 175335161 175335161 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:175335161C>G uc002uit.2 - 5 1374 c.983G>C c.(982-984)GGA>GCA p.G328A GPR155_uc002uiu.2_Missense_Mutation_p.G328A|GPR155_uc002uiv.2_Missense_Mutation_p.G328A|GPR155_uc010fqs.2_Missense_Mutation_p.G328A NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 328 Helical; (Potential). intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 GATAGCCACTCCTGGTGCTAC 0.358 NaN 0 0 0 0.028581 0 15 21 TTC30A 92104 broad.mit.edu 37 2 178483399 178483399 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:178483399C>T uc002ulo.2 - 1 296 c.31G>A c.(31-33)GAC>AAC p.D11N NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 11 TPR 1. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AACTCCCCGTCGGGGATCTGC 0.667 NaN 0 0 0 0.004672 0 3 8 DNAH7 56171 broad.mit.edu 37 2 196605504 196605504 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:196605504C>G uc002utj.3 - 64 11955 c.11854G>C c.(11854-11856)GAT>CAT p.D3952H DNAH7_uc002uti.3_Missense_Mutation_p.D435H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3952 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GGCACTGTATCATAAAGAATT 0.284 NaN 0 0 0 0.043863 0 18 55 INO80D 54891 broad.mit.edu 37 2 206872011 206872011 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:206872011C>T uc002vaz.3 - 10 2320 c.1915G>A c.(1915-1917)GAA>AAA p.E639K NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 639 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ACTATACCTTCAAAAAAATCA 0.348 NaN 0 0 0 0.043863 0 19 41 CYP27A1 1593 broad.mit.edu 37 2 219679423 219679423 + Silent SNP C C G rs138596741 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:219679423C>G uc002viz.3 + 8 1853 c.1419C>G c.(1417-1419)GTC>GTG p.V473V NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 473 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GCTATGGGGTCCGGGCCTGCC 0.637 NaN 0 0 0 0.020292 0 13 32 INHA 3623 broad.mit.edu 37 2 220439960 220439960 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:220439960C>T uc002vmk.1 + 2 957 c.813C>T c.(811-813)TTC>TTT p.F271F NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 271 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) ACATCTCCTTCCAGGAGCTGG 0.607 NaN 0 0 0 0.034045 0 27 66 STK11IP 114790 broad.mit.edu 37 2 220466159 220466159 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:220466159C>G uc002vml.2 + 3 340 c.297C>G c.(295-297)CTC>CTG p.L99L STK11IP_uc010zlj.1_Silent_p.L88L|STK11IP_uc010zlk.1_Silent_p.L88L|STK11IP_uc010zll.1_Silent_p.L88L|STK11IP_uc002vmm.1_Silent_p.L88L NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 99 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACTTTCACTCAAGGTTCTGG 0.542 NaN 0 0 0 0.024245 0 14 31 C20orf71 128861 broad.mit.edu 37 20 31805357 31805357 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:31805357C>T uc002wyr.2 + 1 223 c.15C>T c.(13-15)CTC>CTT p.L5L C20orf71_uc002wys.2_Silent_p.L5L NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 5 extracellular region lipid binding ovary(1)|skin(1) 2 TGTGTCCACTCTGGAGGCTCC 0.592 NaN 0 0 0 0.076483 0 25 86 EPB41L1 2036 broad.mit.edu 37 20 34797659 34797659 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:34797659C>G uc002xfb.2 + 15 2089 c.1918C>G c.(1918-1920)CTG>GTG p.L640V EPB41L1_uc002xeu.2_Missense_Mutation_p.L566V|EPB41L1_uc010zvo.1_Missense_Mutation_p.L640V|EPB41L1_uc002xev.2_Missense_Mutation_p.L640V|EPB41L1_uc002xew.2_Missense_Mutation_p.L531V|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.L566V|EPB41L1_uc010gfq.2_Missense_Mutation_p.L739V NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 640 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) CTCCCGCAGCCTGCCTGAGCT 0.612 NaN 0 0 0 0.045705 0 31 64 SAMHD1 25939 broad.mit.edu 37 20 35521386 35521386 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:35521386G>A uc002xgh.1 - 16 1960 c.1830C>T c.(1828-1830)CTC>CTT p.L610L C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 610 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) ATGCTTCTCGGAGGCGAGTTG 0.428 NaN 0 0 0 0.048971 0 93 163 YWHAB 7529 broad.mit.edu 37 20 43535062 43535062 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:43535062G>A uc002xmt.2 + 7 1006 c.724G>A c.(724-726)GGG>AGG p.G242R YWHAB_uc002xmu.2_Missense_Mutation_p.G242R NM_003404 NP_003395 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 242 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding kidney(2)|ovary(1)|breast(1) 4 Myeloproliferative disorder(115;0.0122) AGGAGACGCTGGGGAGGGAGA 0.438 NaN 0 0 0 0.080422 0 34 82 STAU1 6780 broad.mit.edu 37 20 47734529 47734529 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:47734529G>C uc002xud.2 - 11 1705 c.1294C>G c.(1294-1296)CAA>GAA p.Q432E STAU1_uc002xua.2_Missense_Mutation_p.Q351E|STAU1_uc002xub.2_Missense_Mutation_p.Q357E|STAU1_uc002xuc.2_Missense_Mutation_p.Q351E|STAU1_uc002xue.2_Missense_Mutation_p.Q351E|STAU1_uc002xuf.2_Missense_Mutation_p.Q357E|STAU1_uc002xug.2_Missense_Mutation_p.Q432E NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 432 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGATGTCCTTGACTAACTCCT 0.532 NaN 0 0 0 0.048971 0 55 142 NFATC2 4773 broad.mit.edu 37 20 50049280 50049280 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:50049280C>T uc002xwd.2 - 9 2266 c.2046G>A c.(2044-2046)AAG>AAA p.K682K NFATC2_uc002xwc.2_Silent_p.K682K|NFATC2_uc010zyv.1_Silent_p.K463K|NFATC2_uc010zyw.1_Silent_p.K463K|NFATC2_uc010zyx.1_Silent_p.K662K|NFATC2_uc010zyy.1_Silent_p.K463K|NFATC2_uc010zyz.1_Silent_p.K463K|NFATC2_uc002xwe.2_Silent_p.K662K NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 682 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TGGGCTCCGTCTTGATGGCTG 0.612 NaN 0 0 0 0.038395 0 18 93 CASS4 57091 broad.mit.edu 37 20 55027048 55027048 + Silent SNP C C G rs143746875 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:55027048C>G uc002xxp.2 + 6 1041 c.816C>G c.(814-816)CTC>CTG p.L272L CASS4_uc002xxq.3_Silent_p.L272L|CASS4_uc002xxr.2_Silent_p.L272L|CASS4_uc010zze.1_Silent_p.L218L|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 272 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CCCACGCTCTCCCCAGTTCCA 0.517 NaN 0 0 0 0.054565 0 33 49 RTEL1 51750 broad.mit.edu 37 20 62324319 62324319 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:62324319C>G uc002yfu.1 + 29 3157 c.2814C>G c.(2812-2814)CTC>CTG p.L938L RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.L938L|RTEL1_uc011abd.1_Silent_p.L962L|RTEL1_uc011abe.1_Silent_p.L715L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.L183L|TNFRSF6B_uc002yfy.2_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 938 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TCGGCCCCCTCTTTGCTGAGG 0.657 NaN 0 0 0 0.048971 0 58 186 KRTAP13-1 140258 broad.mit.edu 37 21 31768802 31768802 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:31768802G>A uc002yoa.2 + 1 411 c.398G>A c.(397-399)GGA>GAA p.G133E NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 133 intermediate filament ovary(1) 1 CTGGGTTATGGAGGCTGTGGC 0.582 NaN 0 0 0 0.076483 0 23 12 SYNJ1 8867 broad.mit.edu 37 21 34012014 34012014 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:34012014C>T uc002yqh.2 - 30 3781 c.3781G>A c.(3781-3783)GAA>AAA p.E1261K SYNJ1_uc011ads.1_Missense_Mutation_p.E1175K|SYNJ1_uc002yqf.2_Missense_Mutation_p.E1206K|SYNJ1_uc002yqg.2_Missense_Mutation_p.E1175K|SYNJ1_uc002yqi.2_Missense_Mutation_p.E1261K|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1222 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 CTTTGGCTTTCAGGAGTCAGT 0.363 NaN 0 0 0 0.076483 0 21 54 IL10RB 3588 broad.mit.edu 37 21 34640751 34640751 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:34640751C>G uc002yrk.1 + 2 201 c.102C>G c.(100-102)TTC>TTG p.F34L IL10RB_uc002yrh.1_Missense_Mutation_p.F104L|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Missense_Mutation_p.F36L NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 34 Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 CTGTTAATTTCAAGAACATTC 0.418 NaN 0 0 0 0.0918 0 26 129 CLIC6 54102 broad.mit.edu 37 21 36079652 36079652 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:36079652C>T uc010gmt.1 + 3 1503 c.1503C>T c.(1501-1503)GGC>GGT p.G501G CLIC6_uc002yuf.1_Silent_p.G483G NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 501 Helical; Note=After insertion into the membrane; (Potential). chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity ovary(1)|central_nervous_system(1) 2 GGCTGAAAGGCGTTATATTTA 0.393 NaN 0 0 0 0.048971 0 52 64 TTC3 7267 broad.mit.edu 37 21 38538204 38538204 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:38538204C>T uc002yvz.2 + 33 3793 c.3688C>T c.(3688-3690)CCA>TCA p.P1230S TTC3_uc011aee.1_Missense_Mutation_p.P920S|TTC3_uc002ywa.2_Missense_Mutation_p.P1230S|TTC3_uc002ywb.2_Missense_Mutation_p.P1230S|TTC3_uc010gnf.2_Missense_Mutation_p.P995S|TTC3_uc002ywc.2_Missense_Mutation_p.P920S|TTC3_uc002ywd.1_Missense_Mutation_p.P294S NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1230 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) ATCTTCAGCACCAGCTTTTGA 0.428 NaN 0 0 0 0.038147 0 7 38 DSCAM 1826 broad.mit.edu 37 21 41459119 41459119 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:41459119C>T uc002yyq.1 - 22 4398 c.3946G>A c.(3946-3948)GCA>ACA p.A1316T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1316 Extracellular (Potential).|Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CATTTGACTGCAGGAGAAGGG 0.473 NaN 0 0 0 0.062417 0 23 67 MIF 4282 broad.mit.edu 37 22 24236667 24236667 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:24236667G>A uc002zyr.1 + 1 103 c.6G>A c.(4-6)CCG>CCA p.P2P MIF_uc011aje.1_Silent_p.P2P|uc002zys.1_3'UTR NM_002415 NP_002406 P14174 MIF_HUMAN macrophage migration inhibitory factor 2 Proton acceptor; via imino nitrogen. cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation cell surface|cytoplasm|extracellular space cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity 0 CCATCATGCCGATGTTCATCG 0.687 NaN 0 0 0 0.037714 0 30 29 MYO18B 84700 broad.mit.edu 37 22 26422680 26422680 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:26422680C>T uc003abz.1 + 43 6990 c.6740C>T c.(6739-6741)TCA>TTA p.S2247L MYO18B_uc003aca.1_Missense_Mutation_p.S2128L|MYO18B_uc010guy.1_Missense_Mutation_p.S2129L|MYO18B_uc010guz.1_Missense_Mutation_p.S2127L|MYO18B_uc011aka.1_Missense_Mutation_p.S1401L|MYO18B_uc011akb.1_Missense_Mutation_p.S1760L|MYO18B_uc010gva.1_Missense_Mutation_p.S230L|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2247 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCCAGTCCTTCAGCGGCCCTC 0.602 NaN 0 0 0 0.014758 0 4 27 SLC5A1 6523 broad.mit.edu 37 22 32480979 32480979 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:32480979C>T uc003amc.2 + 9 1210 c.978C>T c.(976-978)TTC>TTT p.F326F SLC5A1_uc011alz.1_Silent_p.F199F NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 326 Helical; (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 TGCCCATGTTCATCATGGTGA 0.502 NaN 0 0 0 0.083992 0 25 86 SYN3 8224 broad.mit.edu 37 22 32924939 32924939 + Silent SNP C C T rs138034081 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:32924939C>T uc003amx.2 - 10 1311 c.1152G>A c.(1150-1152)CTG>CTA p.L384L SYN3_uc003amy.2_Silent_p.L384L|SYN3_uc003amz.2_Silent_p.L383L|SYN3_uc011amc.1_Silent_p.L18L NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 384 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GGTCGGCCATCAGCTGTCTGT 0.592 NaN OREG0026488 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.055883 0 22 83 APOL2 23780 broad.mit.edu 37 22 36624218 36624218 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:36624218C>G uc003aoz.2 - 5 582 c.246G>C c.(244-246)TTG>TTC p.L82F APOL2_uc011amm.1_Missense_Mutation_p.L194F|APOL2_uc003apa.2_Missense_Mutation_p.L82F NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 82 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 GAAACTCTTTCAAAAACCACT 0.507 NaN 0 0 0 0.045515 0 41 139 APOL2 23780 broad.mit.edu 37 22 36624296 36624296 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:36624296C>G uc003aoz.2 - 5 504 c.168G>C c.(166-168)CTG>CTC p.L56L APOL2_uc011amm.1_Silent_p.L168L|APOL2_uc003apa.2_Silent_p.L56L NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 56 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 CAAGCTTGTTCAGAGCTTTAC 0.453 NaN 0 0 0 0.048971 0 55 150 GGA1 26088 broad.mit.edu 37 22 38010268 38010268 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:38010268G>A uc003atc.2 + 2 480 c.115G>A c.(115-117)GAG>AAG p.E39K GGA1_uc003atb.2_Missense_Mutation_p.E39K|GGA1_uc003atd.2_Missense_Mutation_p.E39K|GGA1_uc003ate.2_Missense_Mutation_p.E39K|GGA1_uc003atf.2_5'UTR NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 39 VHS. 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) GCAGCTCAACGAGGACTTTGA 0.607 NaN 0 0 0 0.09319 0 13 42 XPNPEP3 63929 broad.mit.edu 37 22 41322359 41322359 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:41322359C>G uc003azh.2 + 10 1536 c.1444C>G c.(1444-1446)CAG>GAG p.Q482E XPNPEP3_uc003azi.2_Missense_Mutation_p.Q403E|XPNPEP3_uc011aoy.1_RNA NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, 482 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity 0 AGTGGTGACTCAGGACTCACC 0.473 NaN 0 0 0 0.048971 0 59 120 EP300 2033 broad.mit.edu 37 22 41565561 41565561 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:41565561G>C uc003azl.3 + 26 4622 c.4227G>C c.(4225-4227)TTG>TTC p.L1409F NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1409 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CTAAATGCTTGAGGACTGCAG 0.323 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.058154 0 8 119 MOV10L1 54456 broad.mit.edu 37 22 50546633 50546633 + Missense_Mutation SNP G G A rs147590689 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:50546633G>A uc003bjj.2 + 4 594 c.511G>A c.(511-513)GAA>AAA p.E171K MOV10L1_uc003bjk.3_Missense_Mutation_p.E171K|MOV10L1_uc011arp.1_Missense_Mutation_p.E151K|MOV10L1_uc010han.2_Missense_Mutation_p.E151K NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 171 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGGAGCAGCGAAGCCACCTC 0.602 NaN 0 0 0 0.047766 0 8 17 EDEM1 9695 broad.mit.edu 37 3 5243458 5243458 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:5243458C>T uc003bqi.2 + 4 839 c.707C>T c.(706-708)TCT>TTT p.S236F EDEM1_uc011asz.1_Missense_Mutation_p.S14F|EDEM1_uc003bqh.2_Missense_Mutation_p.S236F NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 236 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGCCTCCTTTCTGCTCACAGA 0.408 NaN 0 0 0 0.108266 0 27 106 IL17RC 84818 broad.mit.edu 37 3 9965627 9965627 + Nonsense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:9965627G>T uc003bua.2 + 8 1134 c.898G>T c.(898-900)GAG>TAG p.E300* CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Nonsense_Mutation_p.E204*|IL17RC_uc003btz.2_Nonsense_Mutation_p.E229*|IL17RC_uc011atp.1_Nonsense_Mutation_p.E85*|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Nonsense_Mutation_p.E214*|IL17RC_uc010hct.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcu.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcv.2_Nonsense_Mutation_p.E214*|IL17RC_uc011atq.1_Nonsense_Mutation_p.E214*|IL17RC_uc003buc.2_5'UTR NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 300 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GAATGTCTCTGAGGAGCAGCA 0.592 NaN 1 0 4.81362e-53 0.048971 5.16738e-53 96 79 FANCD2 2177 broad.mit.edu 37 3 10078013 10078013 + Missense_Mutation SNP T T G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:10078013T>G uc003buw.2 + 7 559 c.481T>G c.(481-483)TTT>GTT p.F161V FANCD2_uc003bux.1_Missense_Mutation_p.F161V|FANCD2_uc003buy.1_Missense_Mutation_p.F161V|FANCD2_uc003buv.2_Missense_Mutation_p.F161V NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 161 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GCCAGAATATTTTTTTGAAAA 0.333 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.069288 0 20 93 PLCL2 23228 broad.mit.edu 37 3 17053637 17053637 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:17053637G>A uc011awc.1 + 5 2880 c.2775G>A c.(2773-2775)CTG>CTA p.L925L PLCL2_uc011awd.1_Silent_p.L807L NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 933 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 CCACAGATCTGAGAGAAAACA 0.383 NaN 0 0 0 0.021553 0 5 25 TRANK1 9881 broad.mit.edu 37 3 36872833 36872833 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:36872833G>C uc003cgj.2 - 12 6761 c.6459C>G c.(6457-6459)GTC>GTG p.V2153V NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2703 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCTCCTCCCTGACACGCTCCA 0.592 NaN 0 0 0 0.055883 0 21 8 GOLGA4 2803 broad.mit.edu 37 3 37376609 37376609 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:37376609G>A uc003cgv.2 + 17 6562 c.6258G>A c.(6256-6258)AAG>AAA p.K2086K GOLGA4_uc003cgw.2_Silent_p.K2108K|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.K1967K NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 2086 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AGCTGCAGAAGAAATACCAGC 0.378 NaN 0 0 0 0.014758 0 4 10 ENTPD3 956 broad.mit.edu 37 3 40457435 40457435 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:40457435G>A uc003ckd.3 + 7 794 c.702G>A c.(700-702)AAG>AAA p.K234K ENTPD3_uc010hhy.2_Silent_p.K234K|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 234 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CAGGAGAGAAGATGGATCTGA 0.562 NaN 0 0 0 0.047766 0 9 22 PTH1R 5745 broad.mit.edu 37 3 46940250 46940250 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:46940250C>G uc003cqm.2 + 9 940 c.737C>G c.(736-738)TCT>TGT p.S246C PTH1R_uc003cqn.2_Missense_Mutation_p.S246C NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 246 Extracellular (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GTGCTCTACTCTGGCGCCACG 0.677 NaN Ollier_disease_/_Maffuci_syndrome 0 0 0 0.083992 0 24 21 SETD2 29072 broad.mit.edu 37 3 47144868 47144868 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:47144868G>A uc003cqs.2 - 7 4938 c.4885C>T c.(4885-4887)CAC>TAC p.H1629Y SETD2_uc003cqv.2_Missense_Mutation_p.H1696Y NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1629 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R1629fs*15(1) kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCACAGCTGTGATTCATGAAA 0.333 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.059317 0 33 125 BAP1 8314 broad.mit.edu 37 3 52442604 52442604 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:52442604G>C uc003ddx.2 - 4 256 c.141C>G c.(139-141)ATC>ATG p.I47M PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 47 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TGAACAGGAAGATAAATCCAT 0.473 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.004672 0 3 23 CADPS 8618 broad.mit.edu 37 3 62423823 62423823 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:62423823G>A uc003dll.2 - 28 4093 c.3733C>T c.(3733-3735)CGT>TGT p.R1245C CADPS_uc003dlj.1_Missense_Mutation_p.R200C|CADPS_uc003dlk.1_Missense_Mutation_p.R693C|CADPS_uc003dlm.2_Missense_Mutation_p.R1206C|CADPS_uc003dln.2_Missense_Mutation_p.R1166C NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1245 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACCTTATCACGCAGGACATCC 0.448 NaN 0 0 0 0.009096 0 4 32 CD86 942 broad.mit.edu 37 3 121825321 121825321 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:121825321G>A uc003eet.2 + 4 793 c.677G>A c.(676-678)CGG>CAG p.R226Q CD86_uc011bjo.1_Missense_Mutation_p.R144Q|CD86_uc011bjp.1_Missense_Mutation_p.R114Q|CD86_uc003eeu.2_Missense_Mutation_p.R220Q NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 226 Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GACAAGACGCGGCTTTTATCT 0.403 NaN 0 0 0 0.048971 0 55 66 KALRN 8997 broad.mit.edu 37 3 124380748 124380748 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:124380748G>A uc003ehg.2 + 45 6442 c.6315G>A c.(6313-6315)ATG>ATA p.M2105I KALRN_uc003ehi.2_Missense_Mutation_p.M446I|KALRN_uc003ehk.2_Missense_Mutation_p.M408I|KALRN_uc011bjz.1_Missense_Mutation_p.M197I NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2104 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 ATGACATGATGAATCTAGGAC 0.507 NaN 0 0 0 0.048971 0 89 116 COPB2 9276 broad.mit.edu 37 3 139085601 139085601 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:139085601C>T uc003etf.3 - 15 1823 c.1693G>A c.(1693-1695)GGC>AGC p.G565S COPB2_uc011bmv.1_Missense_Mutation_p.G536S|COPB2_uc010hui.2_Missense_Mutation_p.G536S NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 565 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 GGAATGTAGCCTAGGAGATAC 0.413 NaN 0 0 0 0.021553 0 5 26 GPR149 344758 broad.mit.edu 37 3 154139250 154139250 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:154139250G>A uc003faa.2 - 3 1301 c.1201C>T c.(1201-1203)CTA>TTA p.L401L NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 401 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGGAATGATAGATTGAATTCA 0.284 NaN 0 0 0 0.014758 0 5 10 TRIM59 286827 broad.mit.edu 37 3 160156351 160156351 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:160156351G>A uc003fdm.2 - 3 816 c.621C>T c.(619-621)CTC>CTT p.L207L IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 207 Potential. integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAACATCACAGAGAGCCGTTA 0.353 NaN 0 0 0 0.09836 0 38 161 PIK3CA 5290 broad.mit.edu 37 3 178942564 178942564 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:178942564G>C uc003fjk.2 + 16 2528 c.2371G>C c.(2371-2373)GAG>CAG p.E791Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 791 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATCATGTCAGAGTTACTGTT 0.353 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.02938 0 7 23 CTBP1 1487 broad.mit.edu 37 4 1206715 1206715 + Missense_Mutation SNP A A C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:1206715A>C uc003gcv.1 - 8 1290 c.1125T>G c.(1123-1125)AAT>AAG p.N375K uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.N356K|CTBP1_uc003gcu.1_Missense_Mutation_p.N364K|CTBP1_uc003gcw.2_Missense_Mutation_p.N49K NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 375 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) AGGCAGCCCCATTGAGCTCAG 0.667 NaN 0 0 0 0.024245 0 7 46 POLN 353497 broad.mit.edu 37 4 2130935 2130935 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:2130935G>A uc003ger.2 - 16 1838 c.1838C>T c.(1837-1839)TCA>TTA p.S613L POLN_uc010icg.1_Missense_Mutation_p.S61L|POLN_uc010ich.1_Missense_Mutation_p.S145L NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 613 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GCCTTTGGATGAAACAAACAT 0.398 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.062417 0 22 63 ABLIM2 84448 broad.mit.edu 37 4 7985051 7985051 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:7985051G>C uc003gko.2 - 19 1805 c.1662C>G c.(1660-1662)CTC>CTG p.L554L ABLIM2_uc003gkk.2_Silent_p.L179L|ABLIM2_uc003gkl.2_Silent_p.L282L|ABLIM2_uc003gkj.3_Silent_p.L588L|ABLIM2_uc003gkm.3_Silent_p.L502L|ABLIM2_uc003gkp.2_Silent_p.L474L|ABLIM2_uc003gkq.2_Silent_p.L515L|ABLIM2_uc003gkr.2_Silent_p.L464L|ABLIM2_uc003gki.2_RNA NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 554 HP. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 TTGTGACGATGAGGGAGTCAT 0.562 NaN 0 0 0 0.021553 0 6 25 GPR125 166647 broad.mit.edu 37 4 22449100 22449100 + Nonsense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:22449100G>A uc003gqm.1 - 5 773 c.508C>T c.(508-510)CAA>TAA p.Q170* GPR125_uc010ieo.1_Nonsense_Mutation_p.Q44*|GPR125_uc003gqo.2_Nonsense_Mutation_p.Q170* NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 170 Extracellular (Potential).|LRR 4. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) AAAGTTCCTTGAGATAATGAA 0.249 NaN 0 0 0 0.020292 0 12 30 FRYL 285527 broad.mit.edu 37 4 48517148 48517148 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:48517148C>T uc003gyh.1 - 56 8439 c.7834G>A c.(7834-7836)GAA>AAA p.E2612K FRYL_uc003gyf.1_Missense_Mutation_p.E8K|FRYL_uc003gyg.1_Missense_Mutation_p.E1308K|FRYL_uc003gyi.1_Missense_Mutation_p.E1500K NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2612 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GGGTAACTTTCAGGAGCTAGA 0.423 NaN 0 0 0 0.076483 0 23 29 NPFFR2 10886 broad.mit.edu 37 4 73013407 73013407 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:73013407C>T uc003hgg.2 + 4 1545 c.1447C>T c.(1447-1449)CAG>TAG p.Q483* NPFFR2_uc010iig.1_Nonsense_Mutation_p.Q265*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Q384*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Q381*|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 483 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCAGCTTGTCCAGGAATCTAC 0.403 NaN 0 0 0 0.024245 0 14 31 PPEF2 5470 broad.mit.edu 37 4 76794444 76794444 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:76794444C>T uc003hix.2 - 12 1699 c.1342G>A c.(1342-1344)GAT>AAT p.D448N PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.D448N NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 448 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCCATGGGATCACTCCACAGG 0.433 NaN 0 0 0 0.048971 0 49 81 ADH1B 125 broad.mit.edu 37 4 100235073 100235073 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:100235073G>C uc003hus.3 - 6 817 c.733C>G c.(733-735)CAA>GAA p.Q245E ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.Q205E|ADH1B_uc011ceh.1_Missense_Mutation_p.Q90E|ADH1B_uc011cei.1_Missense_Mutation_p.Q205E NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 245 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTGTAGTCTTGAGGGTTGATG 0.468 NaN 0 0 0 0.048971 0 79 93 MAML3 55534 broad.mit.edu 37 4 140810713 140810713 + Missense_Mutation SNP T T G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:140810713T>G uc003ihz.1 - 3 2617 c.1865A>C c.(1864-1866)AAC>ACC p.N622T MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 622 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) CATCAAGGGGTTTTTGTTGGG 0.393 NaN 0 0 0 0.11126 0 21 246 ADAM29 11086 broad.mit.edu 37 4 175897020 175897020 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:175897020C>T uc003iuc.2 + 5 1014 c.344C>T c.(343-345)TCC>TTC p.S115F ADAM29_uc003iud.2_Missense_Mutation_p.S115F|ADAM29_uc010irr.2_Missense_Mutation_p.S115F|ADAM29_uc011cki.1_Missense_Mutation_p.S115F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 115 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTGGTTTCCCTCAGTACC 0.443 NaN 0 0 0 0.047766 0 9 31 MARCH6 10299 broad.mit.edu 37 5 10391786 10391786 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:10391786G>C uc003jet.1 + 7 892 c.709G>C c.(709-711)GAG>CAG p.E237Q MARCH6_uc011cmu.1_Missense_Mutation_p.E189Q|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E132Q NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 237 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 ggaggacaatgaggaggaaga 0.433 NaN 0 0 0 0.076483 0 23 24 C1QTNF3 114899 broad.mit.edu 37 5 34043213 34043213 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:34043213G>T uc003jin.2 - 1 105 c.18C>A c.(16-18)CTC>CTA p.L6L C1QTNF3_uc003jio.2_Silent_p.L6L NM_030945 NP_112207 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 6 collagen 0 all_lung(31;0.0207) GCCAATAGATGAGCTGCCTCC 0.507 NaN 1 0 3.86212e-05 0.069234 3.92937e-05 11 36 NIPBL 25836 broad.mit.edu 37 5 37020905 37020905 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:37020905G>A uc003jkl.3 + 27 5753 c.5254G>A c.(5254-5256)GAT>AAT p.D1752N NIPBL_uc003jkk.3_Missense_Mutation_p.D1752N NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1752 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGACTATGATGATGCTTGCTT 0.348 NaN 0 0 0 0.048971 0 56 208 NNT 23530 broad.mit.edu 37 5 43650630 43650630 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:43650630C>A uc003joe.2 + 12 1913 c.1658C>A c.(1657-1659)TCC>TAC p.S553Y NNT_uc003jof.2_Missense_Mutation_p.S553Y NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 553 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) TTGTATCCTTCCACAACTTCT 0.443 NaN 1 0 6.44725e-10 0.069288 6.69271e-10 19 53 F2RL1 2150 broad.mit.edu 37 5 76128897 76128897 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:76128897C>G uc003keo.2 + 2 640 c.465C>G c.(463-465)TTC>TTG p.F155L NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 155 Helical; Name=3; (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TTGGCTTTTTCTATGGCAACA 0.468 NaN 0 0 0 0.048971 0 115 294 LYSMD3 116068 broad.mit.edu 37 5 89815090 89815090 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:89815090G>A uc003kjr.2 - 3 615 c.467C>T c.(466-468)TCA>TTA p.S156L LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_3'UTR NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 156 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) GCTACCAGCTGAGTCACTGTA 0.398 NaN 0 0 0 0.020292 0 14 41 PCDHB8 56128 broad.mit.edu 37 5 140558048 140558048 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140558048G>A uc011dai.1 + 1 619 c.433G>A c.(433-435)GAG>AAG p.E145K PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 145 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAGTATCAGAGAGCAGTCC 0.418 NaN 0 0 0 0.048971 0 49 267 SLC25A2 83884 broad.mit.edu 37 5 140683343 140683343 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140683343G>A uc003ljf.2 - 1 270 c.90C>T c.(88-90)TTC>TTT p.F30F NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 30 Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TTATTGTGTCGAAGGGCTGCC 0.597 NaN 0 0 0 0.038395 0 17 40 PCDHGB4 8641 broad.mit.edu 37 5 140769192 140769192 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140769192G>C uc003lkc.1 + 1 1741 c.1741G>C c.(1741-1743)GAG>CAG p.E581Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E581Q NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 581 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACGCTGCAGAGCCTGGCTA 0.652 NaN 0 0 0 0.09319 0 12 39 SLC36A3 285641 broad.mit.edu 37 5 150666828 150666828 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:150666828C>T uc003ltw.2 - 6 1106 c.687G>A c.(685-687)CTG>CTA p.L229L GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L214L|SLC36A3_uc003ltx.2_Silent_p.L270L NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 229 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTCAAAGATCAGAGCCATGC 0.517 NaN 0 0 0 0.0333 0 17 40 G3BP1 10146 broad.mit.edu 37 5 151179852 151179852 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:151179852C>T uc003lun.2 + 10 1200 c.1029C>T c.(1027-1029)TTC>TTT p.F343F G3BP1_uc003lum.2_Silent_p.F343F|G3BP1_uc011dcu.1_Silent_p.F161F|G3BP1_uc010jhz.2_Silent_p.F161F|G3BP1_uc003luq.2_Silent_p.F11F NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 343 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) ACCAACTCTTCATTGGCAACC 0.418 NaN 0 0 0 0.108266 0 26 53 GABRA6 2559 broad.mit.edu 37 5 161116651 161116651 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:161116651C>A uc003lyu.2 + 6 877 c.539C>A c.(538-540)CCC>CAC p.P180H GABRA6_uc003lyv.2_5'UTR NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 180 Extracellular (Probable). P -> H (in a colorectal cancer sample; somatic mutation). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.P180H(1) ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGCTTATCCCAAAAGTGAA 0.328 NaN TCGA Ovarian(5;0.080) 1 0 1.06961e-07 0.038147 1.09918e-07 6 15 SLC34A1 6569 broad.mit.edu 37 5 176815096 176815096 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:176815096G>A uc003mgk.3 + 7 847 c.746G>A c.(745-747)CGA>CAA p.R249Q NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 249 Extracellular (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-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) CACATCACTCGACTTGTGGTG 0.592 NaN 0 0 0 0.043863 0 17 47 RUFY1 80230 broad.mit.edu 37 5 179023597 179023597 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:179023597G>A uc003mka.1 + 13 1546 c.1546G>A c.(1546-1548)GAG>AAG p.E516K RUFY1_uc003mkb.1_Missense_Mutation_p.E408K|RUFY1_uc003mkc.1_Missense_Mutation_p.E408K|RUFY1_uc003mkd.1_Missense_Mutation_p.E118K NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 516 Potential. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGGGGGCTGAGGAGCGGAG 0.617 NaN HNSCC(44;0.11) 0 0 0 0.048971 0 48 123 RPP40 10799 broad.mit.edu 37 6 4996532 4996532 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:4996532C>T uc003mwl.2 - 6 717 c.682G>A c.(682-684)GAG>AAG p.E228K RPP40_uc003mwm.2_Missense_Mutation_p.E205K NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 228 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) GGCGTTCCCTCCAGCTCGCTG 0.557 NaN 0 0 0 0.104719 0 43 84 RREB1 6239 broad.mit.edu 37 6 7231959 7231959 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:7231959C>T uc003mxc.2 + 10 4017 c.3627C>T c.(3625-3627)GCC>GCT p.A1209A RREB1_uc003mxb.2_Silent_p.A1209A|RREB1_uc010jnx.2_Silent_p.A1209A NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1209 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) ATGAGGTGGCCGGAGCCCCTG 0.602 NaN 0 0 0 0.049695 0 18 28 HIVEP1 3096 broad.mit.edu 37 6 12122972 12122972 + Missense_Mutation SNP T T A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:12122972T>A uc003nac.2 + 4 3123 c.2944T>A c.(2944-2946)TGT>AGT p.C982S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 982 C2H2-type 3. transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAAATTTTACTGTTCTGAGTT 0.428 NaN 0 0 0 0.059317 0 37 78 SLC17A4 10050 broad.mit.edu 37 6 25773814 25773814 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:25773814C>G uc003nfe.2 + 8 1018 c.899C>G c.(898-900)TCT>TGT p.S300C SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.S61C|SLC17A4_uc003nfg.2_Missense_Mutation_p.S237C|SLC17A4_uc010jqa.2_Missense_Mutation_p.S13C NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 300 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 ATTTTAGTCTCTTATTTCTGT 0.448 NaN 0 0 0 0.004672 0 3 32 BTN2A1 11120 broad.mit.edu 37 6 26459787 26459787 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:26459787C>T uc003nib.1 + 3 373 c.161C>T c.(160-162)TCA>TTA p.S54L BTN2A1_uc003nic.1_Missense_Mutation_p.S54L|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 54 Extracellular (Potential).|Ig-like V-type. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 TGCCATCTGTCACCCGAGAAA 0.532 NaN 0 0 0 0.105934 0 13 65 HIST1H2AG 8969 broad.mit.edu 37 6 27100942 27100942 + Missense_Mutation SNP T T G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:27100942T>G uc003niw.2 + 1 126 c.92T>G c.(91-93)GTG>GGG p.V31G HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 31 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GTGGGCCGAGTGCACCGCCTG 0.677 NaN 0 0 0 0.0333 0 10 56 VARS2 57176 broad.mit.edu 37 6 30882669 30882669 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:30882669C>T uc003nsc.1 + 1 688 c.56C>T c.(55-57)TCA>TTA p.S19L GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Missense_Mutation_p.S19L|VARS2_uc011dmx.1_Missense_Mutation_p.S19L|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Missense_Mutation_p.S49L|VARS2_uc011dna.1_Missense_Mutation_p.S19L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 19 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CTGAGGCACTCACGGGGCCTC 0.572 NaN 0 0 0 0.048971 0 55 101 RNF5 6048 broad.mit.edu 37 6 32147331 32147331 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:32147331C>T uc003oaj.3 + 2 281 c.154C>T c.(154-156)CAT>TAT p.H52Y AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 52 RING-type. ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GCCATGTCTTCATCAGGTGCG 0.473 NaN 0 0 0 0.048971 0 285 511 B3GALT4 8705 broad.mit.edu 37 6 33246064 33246064 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:33246064G>C uc003odr.2 + 1 1148 c.868G>C c.(868-870)GAG>CAG p.E290Q NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 290 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 TCTCCCATTAGAGGATGTCTT 0.622 NaN 0 0 0 0.108266 0 27 156 DNAH8 1769 broad.mit.edu 37 6 38810631 38810631 + Silent SNP T T C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:38810631T>C uc003ooe.1 + 33 4746 c.4146T>C c.(4144-4146)CTT>CTC p.L1382L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CTTTTTGCCTTAGAAATATCA 0.373 NaN 0 0 0 0.021553 0 6 52 TBCC 6903 broad.mit.edu 37 6 42712930 42712930 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42712930C>G uc003osl.2 - 1 955 c.882G>C c.(880-882)TGG>TGC p.W294C NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 294 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CCGGGTAGCTCCAGGTGTAAG 0.537 NaN 0 0 0 0.048971 0 48 126 TBCC 6903 broad.mit.edu 37 6 42713073 42713073 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42713073C>G uc003osl.2 - 1 812 c.739G>C c.(739-741)GAG>CAG p.E247Q NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 247 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CTGCAGTCCTCCAGGAAAACA 0.592 NaN 0 0 0 0.064281 0 35 85 TBCC 6903 broad.mit.edu 37 6 42713214 42713214 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42713214C>G uc003osl.2 - 1 671 c.598G>C c.(598-600)GAG>CAG p.E200Q NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 200 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) TGGTGCAACTCGCTGGCTCTC 0.602 NaN 0 0 0 0.076483 0 23 34 RCAN2 10231 broad.mit.edu 37 6 46214588 46214588 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:46214588G>C uc003oyb.1 - 3 645 c.330C>G c.(328-330)CTC>CTG p.L110L RCAN2_uc003oyc.1_Silent_p.L156L|RCAN2_uc003oyd.1_Silent_p.L156L NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 110 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 GGGGCGAGATGAGAAACTGTT 0.522 NaN 0 0 0 0.021553 0 5 23 CASP8AP2 9994 broad.mit.edu 37 6 90576496 90576496 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:90576496G>A uc003pnr.2 + 8 3683 c.3487G>A c.(3487-3489)GAA>AAA p.E1163K CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1163K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1163K NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1163 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) AGATAGTGATGAAGGCAAACT 0.328 NaN 0 0 0 0.014758 0 5 24 MICAL1 64780 broad.mit.edu 37 6 109766413 109766413 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:109766413C>G uc003ptj.2 - 21 3122 c.2868G>C c.(2866-2868)TTG>TTC p.L956F MICAL1_uc003ptk.2_Missense_Mutation_p.L956F|MICAL1_uc010kdr.2_Missense_Mutation_p.L870F|MICAL1_uc011eaq.1_Missense_Mutation_p.L975F NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 956 Potential. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TCTGGCGCCTCAAGGCCAGCT 0.592 NaN 0 0 0 0.024245 0 14 74 MICAL1 64780 broad.mit.edu 37 6 109766439 109766439 + Missense_Mutation SNP C C T rs147968137 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:109766439C>T uc003ptj.2 - 21 3096 c.2842G>A c.(2842-2844)GAG>AAG p.E948K MICAL1_uc003ptk.2_Missense_Mutation_p.E948K|MICAL1_uc010kdr.2_Missense_Mutation_p.E862K|MICAL1_uc011eaq.1_Missense_Mutation_p.E967K NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 948 Potential. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TTCACGCCCTCGGCCTCTAGC 0.567 NaN 0 0 0 0.024245 0 14 66 ROS1 6098 broad.mit.edu 37 6 117746802 117746802 + Silent SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:117746802A>G uc003pxp.1 - 1 217 c.18T>C c.(16-18)TGT>TGC p.C6C ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 6 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCGGAATAAGACAGTAAATGT 0.383 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.09319 0 12 54 MAP3K5 4217 broad.mit.edu 37 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:137041602G>C uc003qhc.2 - 2 935 c.574C>G c.(574-576)CTG>GTG p.L192V MAP3K5_uc011edk.1_Missense_Mutation_p.L37V|MAP3K5_uc010kgw.1_Missense_Mutation_p.L192V NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 192 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AGTGACTGCAGAGAGTCCGAG 0.443 NaN 0 0 0 0.020292 0 15 13 PLEKHG1 57480 broad.mit.edu 37 6 151152717 151152717 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:151152717C>G uc003qny.1 + 16 2782 c.2470C>G c.(2470-2472)CAT>GAT p.H824D PLEKHG1_uc011eel.1_Missense_Mutation_p.H864D|PLEKHG1_uc011eem.1_Missense_Mutation_p.H883D|PLEKHG1_uc003qnz.2_Missense_Mutation_p.H824D NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 824 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GTCTATGCCTCATAAGCCTGT 0.458 NaN 0 0 0 0.048971 0 123 155 SYNE1 23345 broad.mit.edu 37 6 152583252 152583252 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:152583252C>T uc010kiw.2 - 101 19489 c.18887G>A c.(18886-18888)AGA>AAA p.R6296K SYNE1_uc010kiv.2_Missense_Mutation_p.R820K|SYNE1_uc003qos.3_Missense_Mutation_p.R820K|SYNE1_uc003qot.3_Missense_Mutation_p.R6225K|SYNE1_uc003qou.3_Missense_Mutation_p.R6296K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6296 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCATTTCATTCTCATCTGGTC 0.378 NaN HNSCC(10;0.0054) 0 0 0 0.076483 0 23 61 IQCE 23288 broad.mit.edu 37 7 2632715 2632715 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:2632715C>T uc003smo.3 + 15 1488 c.1304C>T c.(1303-1305)GCG>GTG p.A435V IQCE_uc010ksm.1_Missense_Mutation_p.A435V|IQCE_uc003sml.1_Missense_Mutation_p.A435V|IQCE_uc011jvy.1_Missense_Mutation_p.A419V|IQCE_uc011jvz.1_Missense_Mutation_p.A370V|IQCE_uc003smk.3_Missense_Mutation_p.A419V|IQCE_uc003smn.3_Missense_Mutation_p.A370V NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 435 Potential. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) ctggagtgcgcgagggagggc 0.413 NaN 0 0 0 0.050027 0 34 159 RNF216 54476 broad.mit.edu 37 7 5781044 5781044 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:5781044C>T uc003soy.1 - 4 623 c.433G>A c.(433-435)GAA>AAA p.E145K RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E202K NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 145 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TCTGAGTCTTCGGATGACTGG 0.453 NaN 0 0 0 0.048971 0 76 373 DAGLB 221955 broad.mit.edu 37 7 6476128 6476128 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:6476128G>C uc003sqa.2 - 3 454 c.284C>G c.(283-285)TCT>TGT p.S95C DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.S95C|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.S54C|DAGLB_uc011jww.1_Intron NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 95 Cytoplasmic (Potential). 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 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) AAGCAGCTTAGACATAGACTT 0.517 NaN 0 0 0 0.048971 0 104 90 ITGB8 3696 broad.mit.edu 37 7 20438615 20438615 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:20438615G>A uc003suu.2 + 9 1984 c.1279G>A c.(1279-1281)GAA>AAA p.E427K ITGB8_uc011jyh.1_Missense_Mutation_p.E292K|ITGB8_uc003sut.2_Missense_Mutation_p.E427K NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 427 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 GAGCAATGATGAAGTATGTGG 0.388 NaN 0 0 0 0.069234 0 11 27 KLHL7 55975 broad.mit.edu 37 7 23180423 23180423 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:23180423G>A uc003svs.3 + 5 771 c.478G>A c.(478-480)GAA>AAA p.E160K KLHL7_uc003svr.3_Missense_Mutation_p.E138K|KLHL7_uc011jys.1_Missense_Mutation_p.E84K|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.E112K|KLHL7_uc011jyv.1_5'UTR NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 160 Golgi apparatus|nucleolus|plasma membrane 0 AGATTGTCCTGAATTGAAAGC 0.328 NaN 0 0 0 0.048971 0 67 57 BMPER 168667 broad.mit.edu 37 7 34192756 34192756 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:34192756C>G uc011kap.1 + 15 2043 c.1929C>G c.(1927-1929)ATC>ATG p.I643M NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 643 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CGGGATGTATCAAGACGTGTG 0.507 NaN 0 0 0 0.048971 0 55 83 CDK13 8621 broad.mit.edu 37 7 40134032 40134032 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:40134032C>G uc003thh.3 + 14 4274 c.3992C>G c.(3991-3993)TCC>TGC p.S1331C CDK13_uc003thi.3_Missense_Mutation_p.S1271C|CDK13_uc003thj.2_Missense_Mutation_p.S382C|CDK13_uc003thk.2_Missense_Mutation_p.S264C NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1331 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 ACTTACGTGTCCACTTCAGAC 0.483 NaN 0 0 0 0.048971 0 73 52 HECW1 23072 broad.mit.edu 37 7 43484701 43484701 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:43484701G>A uc003tid.1 + 11 2535 c.1930G>A c.(1930-1932)GCG>ACG p.A644T HECW1_uc011kbi.1_Missense_Mutation_p.A644T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 644 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGCCAATGGCGCGGCCCAGGA 0.711 NaN 0 0 0 0.105934 0 10 13 PPIA 5478 broad.mit.edu 37 7 44839364 44839364 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:44839364G>A uc003tlw.2 + 4 336 c.253G>A c.(253-255)GAT>AAT p.D85N PPIA_uc003tlx.2_RNA|PPIA_uc010kyl.2_RNA NM_021130 NP_066953 P62937 PPIA_HUMAN peptidylprolyl isomerase A 85 PPIase cyclophilin-type. entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus cytosol|extracellular region|nucleus peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding 0 Cyclosporine(DB00091)|L-Proline(DB00172) GAAATTTGAAGATGAGAACTT 0.458 NaN 0 0 0 0.024245 0 9 252 NSUN5 55695 broad.mit.edu 37 7 72721626 72721626 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:72721626C>T uc003txw.2 - 3 381 c.345G>A c.(343-345)GTG>GTA p.V115V FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.V115V|NSUN5_uc003txx.2_Silent_p.V77V|NSUN5_uc011kev.1_Silent_p.V115V NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 115 methyltransferase activity 0 Lung NSC(55;0.163) CATTCCGGCTCACACCCCGAT 0.642 NaN 0 0 0 0.069234 0 10 29 POM121C 100101267 broad.mit.edu 37 7 75048154 75048154 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:75048154G>C uc003udk.3 - 15 3774 c.2889C>G c.(2887-2889)TCC>TCG p.S963S NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 1205 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 CCGCACCAATGGAAAATGAAG 0.592 NaN 0 0 0 0.047766 0 6 26 HGF 3082 broad.mit.edu 37 7 81388061 81388061 + Nonsense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:81388061G>C uc003uhl.2 - 3 479 c.314C>G c.(313-315)TCA>TGA p.S105* HGF_uc003uhm.2_Nonsense_Mutation_p.S105*|HGF_uc003uhn.1_Nonsense_Mutation_p.S105*|HGF_uc003uho.1_Nonsense_Mutation_p.S105*|HGF_uc003uhp.2_Nonsense_Mutation_p.S105* NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 105 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CACTCCACTTGACATGCTATT 0.318 NaN 0 0 0 0.080935 0 11 54 AKAP9 10142 broad.mit.edu 37 7 91603155 91603155 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:91603155C>T uc003ulg.2 + 2 404 c.179C>T c.(178-180)TCA>TTA p.S60L AKAP9_uc003uld.3_Missense_Mutation_p.S60L|AKAP9_uc003ule.2_Missense_Mutation_p.S72L|AKAP9_uc003ulf.2_Missense_Mutation_p.S60L NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 72 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) ATTGATCAATCACAGTGTAAT 0.363 NaN T BRAF papillary thyroid 0 0 0 0.062417 0 21 35 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:93516176G>A uc003umy.1 - 5 739 c.664C>T c.(664-666)CGC>TGC p.R222C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328 NaN 0 0 0 0.050027 0 33 85 ACN9 57001 broad.mit.edu 37 7 96747140 96747140 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:96747140G>A uc003uoo.3 + 1 1236 c.105G>A c.(103-105)GTG>GTA p.V35V NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor 35 regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) ACCAGTACGTGAAAGACGAAT 0.567 NaN 0 0 0 0.043863 0 20 55 TAF6 6878 broad.mit.edu 37 7 99710524 99710524 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:99710524C>T uc003uti.2 - 6 552 c.471G>A c.(469-471)CAG>CAA p.Q157Q TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 157 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) CTTCAGCCTTCTGTTGCTCTT 0.532 NaN 0 0 0 0.048971 0 93 227 RELN 5649 broad.mit.edu 37 7 103183210 103183210 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:103183210C>G uc003vca.2 - 43 6799 c.6639G>C c.(6637-6639)TTG>TTC p.L2213F RELN_uc010liz.2_Missense_Mutation_p.L2213F NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2213 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) CTCGTGTCATCAACATGCGCA 0.363 NaN 0 0 0 0.083992 0 22 70 NUP205 23165 broad.mit.edu 37 7 135261759 135261759 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135261759G>C uc003vsw.2 + 5 562 c.531G>C c.(529-531)CTG>CTC p.L177L NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 177 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 CAGATGAGCTGATGGAGCAAG 0.388 NaN 0 0 0 0.09319 0 12 23 NUP205 23165 broad.mit.edu 37 7 135263632 135263632 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135263632G>A uc003vsw.2 + 7 1042 c.1011G>A c.(1009-1011)TTG>TTA p.L337L NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 337 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 CGCTGGCATTGAGGGGAATAT 0.448 NaN 0 0 0 0.024245 0 12 32 NUP205 23165 broad.mit.edu 37 7 135302356 135302356 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135302356C>T uc003vsw.2 + 27 3728 c.3697C>T c.(3697-3699)CAT>TAT p.H1233Y NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1233 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 CCAGCTTCTTCATAGGGTTCT 0.403 NaN 0 0 0 0.105934 0 14 51 ZNF786 136051 broad.mit.edu 37 7 148769075 148769075 + Silent SNP C C T rs35396902 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:148769075C>T uc003wfh.2 - 4 926 c.789G>A c.(787-789)ACG>ACA p.T263T ZNF786_uc011kuk.1_Silent_p.T226T|ZNF786_uc003wfi.2_Silent_p.T177T NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGCCCCTCCCCGTGTGGGCCG 0.682 NaN 0 0 0 0.028581 0 12 27 GIMAP2 26157 broad.mit.edu 37 7 150390122 150390122 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:150390122C>T uc003who.2 + 3 836 c.748C>T c.(748-750)CAA>TAA p.Q250* GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 250 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATGGAAACTCAAAGAAGTTA 0.383 NaN 0 0 0 0.099896 0 28 30 RP1L1 94137 broad.mit.edu 37 8 10468223 10468223 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:10468223C>G uc003wtc.2 - 4 3614 c.3385G>C c.(3385-3387)GAG>CAG p.E1129Q NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1129 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGTCTTCCTCAAATAACTGC 0.602 NaN 0 0 0 0.048971 0 56 41 PDLIM2 64236 broad.mit.edu 37 8 22442667 22442667 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:22442667C>T uc003xby.2 + 5 853 c.453C>T c.(451-453)ATC>ATT p.I151I PDLIM2_uc003xbx.1_Silent_p.I151I|PDLIM2_uc003xbz.2_Silent_p.I151I|PDLIM2_uc003xca.2_Silent_p.I151I|PDLIM2_uc003xcb.2_Silent_p.I151I|PDLIM2_uc003xcc.1_Silent_p.I151I NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 151 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) AGGCAGCCATCAGCCGCAGGT 0.662 NaN 0 0 0 0.11126 0 26 21 ST18 9705 broad.mit.edu 37 8 53084883 53084883 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:53084883C>T uc003xqz.2 - 5 694 c.538G>A c.(538-540)GAT>AAT p.D180N ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D145N|ST18_uc011lds.1_Missense_Mutation_p.D85N|ST18_uc003xra.2_Missense_Mutation_p.D180N|ST18_uc003xrb.2_Missense_Mutation_p.D180N NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 180 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGAGAATCATCAATCTTGTCT 0.428 NaN 0 0 0 0.048971 0 55 100 ST18 9705 broad.mit.edu 37 8 53084982 53084982 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:53084982C>T uc003xqz.2 - 5 595 c.439G>A c.(439-441)GAA>AAA p.E147K ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E112K|ST18_uc011lds.1_Missense_Mutation_p.E52K|ST18_uc003xra.2_Missense_Mutation_p.E147K|ST18_uc003xrb.2_Missense_Mutation_p.E147K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 147 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTAAATTTTCACTTACAGTC 0.378 NaN 0 0 0 0.048971 0 64 103 PDE7A 5150 broad.mit.edu 37 8 66659966 66659966 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:66659966C>G uc003xvq.2 - 4 368 c.356G>C c.(355-357)AGA>ACA p.R119T PDE7A_uc003xvr.2_Missense_Mutation_p.R119T|PDE7A_uc003xvp.2_Missense_Mutation_p.R93T NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 119 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GCGTGAAGATCTAAGATATCG 0.343 NaN 0 0 0 0.020292 0 15 33 PREX2 80243 broad.mit.edu 37 8 68981310 68981310 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:68981310G>C uc003xxv.1 + 12 1409 c.1382G>C c.(1381-1383)AGA>ACA p.R461T PREX2_uc003xxu.1_Missense_Mutation_p.R461T|PREX2_uc011lez.1_Missense_Mutation_p.R396T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 461 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ATGTTATATAGATTTCGCTAT 0.348 NaN 0 0 0 0.0918 0 24 46 WWP1 11059 broad.mit.edu 37 8 87439902 87439902 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:87439902A>T uc003ydt.2 + 11 1468 c.1188A>T c.(1186-1188)AGA>AGT p.R396S WWP1_uc010mai.2_Missense_Mutation_p.R172S NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 396 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 ATCGTAGAAGAGTTTATTATG 0.373 NaN 0 0 0 0.048971 0 55 125 FZD6 8323 broad.mit.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:104337581G>A uc003ylh.2 + 4 1531 c.1247G>A c.(1246-1248)CGA>CAA p.R416Q FZD6_uc003yli.2_Missense_Mutation_p.R416Q|FZD6_uc003ylj.2_Missense_Mutation_p.R416Q|FZD6_uc011lhn.1_Missense_Mutation_p.R382Q|FZD6_uc011lho.1_Missense_Mutation_p.R111Q|FZD6_uc011lhp.1_Missense_Mutation_p.R361Q NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 416 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) TTTATGATTCGAATTGGAGTC 0.403 NaN 0 0 0 0.083992 0 18 88 ZHX2 22882 broad.mit.edu 37 8 123964977 123964977 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:123964977G>C uc003ypk.1 + 3 1794 c.1227G>C c.(1225-1227)TTG>TTC p.L409F NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 409 Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGAGACCCTTGGTGACTCCCC 0.637 NaN 0 0 0 0.004672 0 3 54 ATAD2 29028 broad.mit.edu 37 8 124335198 124335198 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:124335198C>A uc003yqh.3 - 27 4219 c.4111G>T c.(4111-4113)GAT>TAT p.D1371Y ATAD2_uc011lii.1_Missense_Mutation_p.D1162Y|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1371 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GATGTTTTATCATGGTCCTTG 0.333 NaN 1 0 4.57574e-12 0.048971 4.77418e-12 61 116 ATAD2 29028 broad.mit.edu 37 8 124346190 124346190 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:124346190C>T uc003yqh.3 - 24 3514 c.3406G>A c.(3406-3408)GAT>AAT p.D1136N ATAD2_uc011lii.1_Missense_Mutation_p.D927N|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1136 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GATCTTTTATCACCAACAAGA 0.413 NaN 0 0 0 0.083992 0 25 113 MTSS1 9788 broad.mit.edu 37 8 125568500 125568500 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:125568500C>T uc003yrk.2 - 12 1911 c.1377G>A c.(1375-1377)CGG>CGA p.R459R NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.R233R|MTSS1_uc011lio.1_Silent_p.R349R|MTSS1_uc003yri.2_Silent_p.R177R|MTSS1_uc003yrj.2_Silent_p.R434R|MTSS1_uc003yrl.2_Silent_p.R463R NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 459 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CAGTCATGCTCCGTGGTCTCT 0.632 NaN 0 0 0 0.080935 0 9 22 NSMCE2 286053 broad.mit.edu 37 8 126114679 126114679 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:126114679C>G uc003yrw.2 + 3 335 c.107C>G c.(106-108)TCT>TGT p.S36C NSMCE2_uc003yrv.2_Missense_Mutation_p.S36C NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 36 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TGTATCAACTCTGGTATGGAC 0.418 NaN 0 0 0 0.099896 0 20 138 NSMCE2 286053 broad.mit.edu 37 8 126114697 126114697 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:126114697C>T uc003yrw.2 + 3 353 c.125C>T c.(124-126)TCT>TTT p.S42F NSMCE2_uc003yrv.2_Missense_Mutation_p.S42F NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 42 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) GACACAGCTTCTAGTGTTGCT 0.423 NaN 0 0 0 0.076483 0 22 141 FAM135B 51059 broad.mit.edu 37 8 139380150 139380150 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:139380150C>T uc003yuy.2 - 2 248 c.77G>A c.(76-78)GGG>GAG p.G26E FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 26 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATACTTACCCTCTCTGAAA 0.328 NaN HNSCC(54;0.14) 0 0 0 0.038147 0 7 88 ARHGAP39 80728 broad.mit.edu 37 8 145806415 145806415 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:145806415C>T uc003zdt.1 - 4 882 c.327G>A c.(325-327)CTG>CTA p.L109L ARHGAP39_uc011llk.1_Silent_p.L109L|ARHGAP39_uc003zds.1_Silent_p.L109L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 109 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 TGTTCTGCTTCAGCGTCTGCA 0.701 NaN 0 0 0 0.038147 0 8 3 SMARCA2 6595 broad.mit.edu 37 9 2110409 2110409 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:2110409C>T uc003zhc.2 + 24 3547 c.3448C>T c.(3448-3450)CCT>TCT p.P1150S SMARCA2_uc003zhd.2_Missense_Mutation_p.P1150S|SMARCA2_uc010mha.2_Missense_Mutation_p.P1083S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1150 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CGACTGGAATCCTCATCAGGT 0.478 NaN 0 0 0 0.043863 0 20 8 KIAA1797 54914 broad.mit.edu 37 9 20874759 20874759 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:20874759C>G uc003zog.1 + 21 2633 c.2270C>G c.(2269-2271)TCT>TGT p.S757C KIAA1797_uc003zoh.1_Missense_Mutation_p.S193C NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 757 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GTTCCTGGCTCTTGCTATCTC 0.408 NaN 0 0 0 0.062417 0 23 22 UNC13B 10497 broad.mit.edu 37 9 35386232 35386232 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:35386232C>T uc003zwq.2 + 23 3081 c.2789C>T c.(2788-2790)TCC>TTC p.S930F UNC13B_uc003zwr.2_Missense_Mutation_p.S930F NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 930 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) TGTTTGAACTCCACATATGAA 0.493 NaN 0 0 0 0.099896 0 27 16 GDA 9615 broad.mit.edu 37 9 74764526 74764526 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:74764526C>T uc004aiq.2 + 1 234 c.51C>T c.(49-51)TTC>TTT p.F17F GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.F17F|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 17 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GAGGGACGTTCGTCCACTCCA 0.697 NaN 0 0 0 0.02938 0 6 8 STOM 2040 broad.mit.edu 37 9 124110421 124110421 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:124110421G>C uc004blh.2 - 6 612 c.532C>G c.(532-534)CTG>GTG p.L178V STOM_uc011lyk.1_Missense_Mutation_p.L127V|STOM_uc004bli.2_Intron NM_004099 NP_004090 P27105 STOM_HUMAN stomatin isoform a 178 Cytoplasmic (Potential). protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding 0 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) GCATCATCCAGAGTAGACTGT 0.502 NaN 0 0 0 0.09836 0 39 21 VAV2 7410 broad.mit.edu 37 9 136804249 136804249 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:136804249G>T uc004ces.2 - 2 343 c.297C>A c.(295-297)CTC>CTA p.L99L VAV2_uc004cer.2_Silent_p.L99L NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 99 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GCACATCGAAGAGGTCAAAGG 0.532 NaN 1 0 2.24059e-21 0.030593 2.3741e-21 30 107 COL5A1 1289 broad.mit.edu 37 9 137593102 137593102 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:137593102C>T uc004cfe.2 + 4 959 c.577C>T c.(577-579)CGC>TGC p.R193C NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 193 TSP N-terminal.|Laminin G-like. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATTCCTCGACCGCAGCGACCA 0.517 NaN 0 0 0 0.099896 0 25 28 KCNT1 57582 broad.mit.edu 37 9 138645821 138645821 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:138645821C>T uc011mdq.1 + 5 547 c.473C>T c.(472-474)TCG>TTG p.S158L KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.S110L|KCNT1_uc004cgo.1_5'UTR NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 158 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TTCAATGACTCGTCCTCCGAG 0.622 NaN 0 0 0 0.034045 0 29 66 EHMT1 79813 broad.mit.edu 37 9 140707937 140707937 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:140707937C>T uc011mfc.1 + 21 3172 c.3135C>T c.(3133-3135)TGC>TGT p.C1045C EHMT1_uc004coe.2_5'Flank NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1045 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTCAGAACTGCGTGACGTCCC 0.582 NaN 0 0 0 0.080935 0 10 30 ATXN3L 92552 broad.mit.edu 37 X 13337636 13337636 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:13337636G>T uc010ned.2 - 1 883 c.418C>A c.(418-420)CCA>ACA p.P140T NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 140 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 ATTAATTCTGGACCCGCCAAG 0.333 NaN 1 0 6.31663e-08 0.024245 6.50756e-08 14 7 CXorf23 256643 broad.mit.edu 37 X 19947930 19947930 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:19947930G>A uc004czp.2 - 10 1992 c.1992C>T c.(1990-1992)TTC>TTT p.F664F CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.F643F NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 693 mitochondrion lung(1)|skin(1) 2 ATCTTTCTCTGAACTTATGAG 0.333 NaN 0 0 0 0.048971 0 76 17 DGKK 139189 broad.mit.edu 37 X 50121635 50121635 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:50121635C>A uc010njr.1 - 21 2977 c.2917G>T c.(2917-2919)GGT>TGT p.G973C NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 973 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TGCACAGAACCAAAGATTGCC 0.537 NaN 1 0 6.4e-05 0.004672 6.49529e-05 3 2 MAGED2 10916 broad.mit.edu 37 X 54841756 54841756 + Nonsense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:54841756G>T uc004dtk.1 + 12 1556 c.1462G>T c.(1462-1464)GAG>TAG p.E488* MAGED2_uc004dtl.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dtm.1_Nonsense_Mutation_p.E403*|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dto.1_Nonsense_Mutation_p.E462* NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 488 ovary(2)|breast(1) 3 ggctgcagctgaggctgcagc 0.478 NaN 1 0 9.62906e-15 0.086207 1.01241e-14 36 11 ZC4H2 55906 broad.mit.edu 37 X 64139077 64139077 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:64139077C>T uc004dvu.2 - 4 494 c.406G>A c.(406-408)GAG>AAG p.E136K ZC4H2_uc004dvv.2_Missense_Mutation_p.E113K|ZC4H2_uc011mov.1_Missense_Mutation_p.E113K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 136 metal ion binding|protein binding ovary(1) 1 TTCTGCTTCTCAAAGTAACTT 0.532 NaN 0 0 0 0.069288 0 22 9 PCDH19 57526 broad.mit.edu 37 X 99663458 99663458 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:99663458C>T uc010nmz.2 - 1 1814 c.138G>A c.(136-138)GCG>GCA p.A46A PCDH19_uc004efw.3_Silent_p.A46A|PCDH19_uc004efx.3_Silent_p.A46A NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 46 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CCGCCTCTCGCGCGTCTTTGG 0.632 NaN 0 0 0 0.058154 0 8 8 TBC1D8B 54885 broad.mit.edu 37 X 106082551 106082551 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:106082551C>T uc004emo.2 + 8 1382 c.1217C>T c.(1216-1218)TCT>TTT p.S406F MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.S406F NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 406 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCTATTAGTTCTGAGTCTACA 0.348 NaN 0 0 0 0.049695 0 18 22 ABCD1 215 broad.mit.edu 37 X 152991184 152991184 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:152991184G>A uc004fif.2 + 1 862 c.463G>A c.(463-465)GAG>AAG p.E155K BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 155 ABC transmembrane type-1.|Interaction with PEX19. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGTTACCTGGAGGGCCAACT 0.642 NaN 0 0 0 0.041601 0 31 7 TAS2R50 259296 broad.mit.edu 37 12 11139103 11139106 + Frame_Shift_Del DEL AAGA AAGA - TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:11139103_11139106delAAGA uc001qzl.2 - 1 406_409 c.354_357delTCTT c.(352-357)TTTCTTfs p.F118fs PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 118_119 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 TCTTTAAATGAAGAAAAAGAAGGT 0.392 NaN NaN NaN NaN NaN NaN 23 69 --- --- BAZ2A 11176 broad.mit.edu 37 12 57009177 57009178 + Frame_Shift_Ins INS - - C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:57009177_57009178insC uc001slq.1 - 3 550_551 c.356_357insG c.(355-357)GGAfs p.G119fs BAZ2A_uc001slp.1_Frame_Shift_Ins_p.G117fs|BAZ2A_uc010sqr.1_Frame_Shift_Ins_p.G119fs|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.G117fs NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 119 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 GTGGGTATTGTCCCCCCGAGAA 0.584 NaN NaN NaN NaN NaN NaN 76 151 --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:73569700_73569701insG uc002joh.2 + 21 3018_3019 c.2864_2865insG c.(2863-2865)CCGfs p.P955fs LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 NaN NaN NaN NaN NaN NaN 7 56 --- --- NEU2 4759 broad.mit.edu 37 2 233899698 233899698 + Frame_Shift_Del DEL T T - TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:233899698delT uc010zmn.1 + 2 1074 c.1074delT c.(1072-1074)GATfs p.D358fs NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 358 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) AAGCCAATGATTACGAGGAGA 0.577 NaN NaN NaN NaN NaN NaN 92 285 --- --- MMP24 10893 broad.mit.edu 37 20 33862215 33862216 + Frame_Shift_Ins INS - - G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:33862215_33862216insG uc002xbu.2 + 9 1744_1745 c.1741_1742insG c.(1741-1743)CGGfs p.R581fs EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 581 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAAGGAGCGGCGGCTGCCCCAG 0.644 NaN NaN NaN NaN NaN NaN 7 221 --- --- MYOT 9499 broad.mit.edu 37 5 137222941 137222941 + Frame_Shift_Del DEL G G - rs141801816 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:137222941delG uc011cye.1 + 10 1381 c.1364delG c.(1363-1365)CGGfs p.R455fs PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Frame_Shift_Del_p.R455fs|MYOT_uc011cyg.1_Frame_Shift_Del_p.R271fs|MYOT_uc011cyh.1_Frame_Shift_Del_p.R340fs NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 455 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAGCAGTTACGGGTTCGACCA 0.393 NaN NaN NaN NaN NaN NaN 42 133 --- ---