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 MIB2 142678 broad.mit.edu 37 1 1563943 1563943 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:1563943G>A uc001agg.2 + 16 2344 c.2217G>A c.(2215-2217)GTG>GTA p.V739V MIB2_uc001agh.2_Silent_p.V725V|MIB2_uc001agi.2_Silent_p.V735V|MIB2_uc001agj.2_Silent_p.V580V|MIB2_uc001agk.2_Silent_p.V674V|MIB2_uc001agl.1_Silent_p.V695V|MIB2_uc001agm.2_Silent_p.V616V|MIB2_uc010nyq.1_Silent_p.V695V|MIB2_uc009vkh.2_Silent_p.V545V|MIB2_uc001agn.2_Silent_p.V371V|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 739 ANK 7. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGCCCACGTGGGGCTGGTGC 0.697 NaN 0 0 0 1 0 3 9 PTCHD2 57540 broad.mit.edu 37 1 11586880 11586880 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:11586880A>G uc001ash.3 + 13 2924 c.2786A>G c.(2785-2787)CAG>CGG p.Q929R PTCHD2_uc001asi.1_Missense_Mutation_p.Q929R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 929 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACCAAGGAGCAGCAGCACACC 0.592 NaN 0 0 0 1 0 13 40 NPPB 4879 broad.mit.edu 37 1 11918889 11918889 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:11918889A>T uc001atj.2 - 1 104 c.2T>A c.(1-3)ATG>AAG p.M1K NM_002521 NP_002512 P16860 ANFB_HUMAN natriuretic peptide precursor B preproprotein 1 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CTGGGGATCCATGTCTCTGGA 0.532 NaN 0 0 0 1 0 24 43 DDI2 84301 broad.mit.edu 37 1 15959933 15959933 + Splice_Site SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:15959933G>C uc001awx.1 + 4 602 c.506_splice c.e4-1 p.E169_splice DDI2_uc001aww.2_Splice_Site_p.E169_splice|DDI2_uc009voj.1_Splice_Site NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TATTTTTGTAGAGAAATTTTC 0.393 NaN 0 0 0 1 0 78 149 DDI2 84301 broad.mit.edu 37 1 15978369 15978369 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:15978369C>G uc001awx.1 + 8 1258 c.1162C>G c.(1162-1164)CAA>GAA p.Q388E DDI2_uc009voj.1_Missense_Mutation_p.Q129E NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 388 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGAAGCCCTTCAAAAATCAGC 0.512 NaN 0 0 0 1 0 13 16 CLCNKA 1187 broad.mit.edu 37 1 16358726 16358726 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:16358726G>A uc001axu.2 + 17 1865 c.1785G>A c.(1783-1785)CAG>CAA p.Q595Q CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.Q595Q|CLCNKA_uc010obw.1_Silent_p.Q552Q|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 595 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCATCGTGCAGAGGGCCCAGC 0.642 NaN 0 0 0 1 0 15 33 KLHDC7A 127707 broad.mit.edu 37 1 18808004 18808004 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:18808004G>A uc001bax.2 + 1 581 c.529G>A c.(529-531)GAC>AAC p.D177N KLHDC7A_uc009vpg.2_5'UTR NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 177 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCAGCAGCCGACGGCAGCTG 0.607 NaN 0 0 0 1 0 11 30 FAM54B 56181 broad.mit.edu 37 1 26153217 26153217 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:26153217G>A uc001bkq.3 + 5 561 c.351G>A c.(349-351)CTG>CTA p.L117L FAM54B_uc001bkr.3_Silent_p.L117L|FAM54B_uc010oet.1_Silent_p.L150L|FAM54B_uc009vrz.2_Silent_p.L114L|FAM54B_uc001bks.3_Silent_p.L117L|FAM54B_uc001bkt.3_Silent_p.L117L|FAM54B_uc001bku.3_Silent_p.L114L|FAM54B_uc001bkv.3_Silent_p.L20L NM_001099625 NP_001093095 Q9H019 FA54B_HUMAN hypothetical protein LOC56181 isoform a 117 pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649) TTCTGGCCCTGAAGAAGCCAG 0.607 NaN 0 0 0 1 0 33 60 SLC9A1 6548 broad.mit.edu 37 1 27480481 27480481 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:27480481C>T uc001bnm.2 - 1 971 c.345G>A c.(343-345)ATG>ATA p.M115I SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.M115I NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 115 Helical; Name=M2; (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TACCTATCTTCATGAGGCAGG 0.587 NaN 0 0 0 1 0 23 50 COL16A1 1307 broad.mit.edu 37 1 32157645 32157645 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:32157645G>T uc001btk.1 - 17 1583 c.1218C>A c.(1216-1218)GAC>GAA p.D406E COL16A1_uc001btj.1_Missense_Mutation_p.D235E|COL16A1_uc001btl.3_Missense_Mutation_p.D406E NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 406 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGATGCCTCCGTCGCCCTTCT 0.647 NaN 1 0 2.39187e-15 1 2.50233e-15 21 49 CSMD2 114784 broad.mit.edu 37 1 33989000 33989000 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:33989000A>G uc001bxn.1 - 66 10013 c.9984T>C c.(9982-9984)GAT>GAC p.D3328D CSMD2_uc001bxm.1_Silent_p.D3472D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3328 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAGATGAAAATCTTCTTTCT 0.383 NaN 0 0 0 1 0 6 3 SFPQ 6421 broad.mit.edu 37 1 35657035 35657035 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:35657035G>A uc001bys.2 - 2 1017 c.924C>T c.(922-924)ATC>ATT p.I308I SFPQ_uc001byr.2_5'Flank NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 308 RRM 1. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CATCCTCCGTGATATCAGCAG 0.403 NaN T TFE3 papillary renal cell 0 0 0 1 0 15 16 THRAP3 9967 broad.mit.edu 37 1 36762187 36762187 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:36762187G>A uc001cae.3 + 9 2343 c.2119G>A c.(2119-2121)GAG>AAG p.E707K THRAP3_uc001caf.3_Missense_Mutation_p.E707K NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 707 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTGATAGGCTGAGGGAAAATA 0.408 NaN T USP6 aneurysmal bone cysts 0 0 0 1 0 27 15 ECHDC2 55268 broad.mit.edu 37 1 53387303 53387303 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:53387303G>A uc001cup.3 - 1 289 c.43C>T c.(43-45)CGG>TGG p.R15W ECHDC2_uc001cun.2_5'UTR|ECHDC2_uc001cuo.3_Missense_Mutation_p.R15W|ECHDC2_uc010onk.1_5'UTR|ECHDC2_uc010onl.1_5'Flank|ECHDC2_uc010onm.1_5'UTR|ECHDC2_uc010onn.1_5'UTR NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 15 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 CCGCGGGCCCGAAGGGGCCTC 0.731 NaN 0 0 0 1 0 5 6 TM2D1 83941 broad.mit.edu 37 1 62190818 62190818 + Translation_Start_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:62190818C>T uc001czz.1 - 1 278 c.-25G>A c.(-27--23)AAGTG>AAATG NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN beta-amyloid binding protein precursor apoptosis ovary(1) 1 TTTCTCGCCACTTCCGCTTCC 0.642 NaN 0 0 0 1 0 27 37 C1orf141 400757 broad.mit.edu 37 1 67560923 67560923 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:67560923G>A uc001ddl.1 - 6 709 c.598C>T c.(598-600)CAC>TAC p.H200Y C1orf141_uc001ddm.1_Missense_Mutation_p.H200Y|C1orf141_uc001ddn.1_Intron NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 200 ovary(1) 1 ATTACCATGTGAGAAGTTACT 0.343 NaN 0 0 0 1 0 7 15 ANKRD13C 81573 broad.mit.edu 37 1 70736618 70736618 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:70736618T>C uc001dex.3 - 12 1742 c.1416A>G c.(1414-1416)GTA>GTG p.V472V ANKRD13C_uc009wbk.2_Silent_p.V437V NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 472 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 AGGGAGCTACTACTTCTAAAA 0.284 NaN 0 0 0 1 0 11 23 ZRANB2 9406 broad.mit.edu 37 1 71544365 71544365 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:71544365C>T uc001dft.2 - 2 150 c.83G>A c.(82-84)AGA>AAA p.R28K uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Missense_Mutation_p.R28K NM_203350 NP_976225 O95218 ZRAB2_HUMAN zinc finger protein 265 isoform 1 28 RanBP2-type 1. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACAGCTGGTTCTTCTAGCAAA 0.264 NaN 0 0 0 1 0 31 64 GBP4 115361 broad.mit.edu 37 1 89654466 89654466 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:89654466C>T uc001dnb.2 - 8 1325 c.1209G>A c.(1207-1209)GAG>GAA p.E403E NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 403 IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889). cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) CCTTCTTTTTCTCTATGGTGT 0.448 NaN 0 0 0 1 0 58 91 DR1 1810 broad.mit.edu 37 1 93812391 93812391 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:93812391G>A uc001dpu.2 + 1 914 c.189G>A c.(187-189)AAG>AAA p.K63K uc001dps.2_5'Flank|uc001dpt.1_5'Flank|DR1_uc010otj.1_Silent_p.K63K NM_001938 NP_001929 Q01658 NC2B_HUMAN down-regulator of transcription 1 63 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity 0 all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155) all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977) AATCGGAAAAGAAGACCATCT 0.468 NaN 0 0 0 1 0 7 14 DPYD 1806 broad.mit.edu 37 1 98187148 98187148 + Missense_Mutation SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:98187148T>A uc001drv.2 - 5 538 c.401A>T c.(400-402)GAT>GTT p.D134V DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.D134V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 134 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TACACAAAGATCAGAGGTTGG 0.383 NaN 0 0 0 1 0 12 61 LPPR4 9890 broad.mit.edu 37 1 99772144 99772144 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:99772144G>C uc001dse.2 + 7 1976 c.1870G>C c.(1870-1872)GAG>CAG p.E624Q LPPR4_uc010oue.1_Missense_Mutation_p.E566Q NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 624 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGTGAGGGTTGAGGCTCACCC 0.562 NaN 0 0 0 1 0 20 37 CELSR2 1952 broad.mit.edu 37 1 109805873 109805873 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:109805873C>T uc001dxa.3 + 8 4879 c.4818C>T c.(4816-4818)GGC>GGT p.G1606G NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1606 Extracellular (Potential).|EGF-like 4; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTTTGGGGGCAAGAGCTGCG 0.637 NaN 0 0 0 1 0 8 26 SLC16A1 6566 broad.mit.edu 37 1 113456585 113456585 + Silent SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:113456585A>C uc001ecx.2 - 5 2263 c.1431T>G c.(1429-1431)GTT>GTG p.V477V SLC16A1_uc001ecy.2_Silent_p.V477V NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 477 Cytoplasmic (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CTGCTTTGGTAACTTCATTTG 0.458 NaN 0 0 0 1 0 55 75 PHTF1 10745 broad.mit.edu 37 1 114246790 114246790 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:114246790C>T uc009wgp.1 - 14 2256 c.1804_splice c.e14-1 p.R602_splice PHTF1_uc001edn.2_Intron|PHTF1_uc001edm.2_Splice_Site_p.R359_splice NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCCCCGTCTCTGTGGAGTGA 0.428 NaN 0 0 0 1 0 11 22 MAN1A2 10905 broad.mit.edu 37 1 117944919 117944919 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:117944919G>A uc001ehd.1 + 2 1135 c.414G>A c.(412-414)CAG>CAA p.Q138Q MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 138 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CAGAAATTCAGACAGAGAAAA 0.403 NaN 0 0 0 1 0 26 43 WDR3 10885 broad.mit.edu 37 1 118502031 118502031 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:118502031G>C uc010oxe.1 + 27 2859 c.2793G>C c.(2791-2793)AAG>AAC p.K931N WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 931 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) agaagaggaagaggaaaaaga 0.299 NaN 0 0 0 1 0 14 39 TBX15 6913 broad.mit.edu 37 1 119456781 119456781 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:119456781G>A uc001ehl.1 - 6 880 c.565C>T c.(565-567)CGA>TGA p.R189* NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 295 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AAAGGGTTTCGGTCAATTTTT 0.333 NaN 0 0 0 1 0 15 23 PDE4DIP 9659 broad.mit.edu 37 1 144874026 144874026 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:144874026G>A uc001elw.3 - 31 5222 c.4931C>T c.(4930-4932)TCC>TTC p.S1644F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1600F|PDE4DIP_uc001elv.3_Missense_Mutation_p.S651F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1644 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGATGGATGGAATCTATAAA 0.458 NaN T PDGFRB MPD 0 0 0 1 0 58 267 PDE4DIP 9659 broad.mit.edu 37 1 144917918 144917918 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:144917918G>A uc001elw.3 - 11 1659 c.1368C>T c.(1366-1368)CTC>CTT p.L456L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L522L|PDE4DIP_uc001emc.1_Silent_p.L456L|PDE4DIP_uc001emd.1_Silent_p.L456L|PDE4DIP_uc001emb.1_Silent_p.L619L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L243L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 456 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GATACTGTAGGAGCTCCCGAA 0.284 NaN T PDGFRB MPD 0 0 0 1 0 51 254 TCHH 7062 broad.mit.edu 37 1 152084109 152084109 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:152084109G>A uc001ezp.2 - 2 1584 c.1584C>T c.(1582-1584)CTC>CTT p.L528L TCHH_uc009wne.1_Silent_p.L528L NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 528 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGCTGCTGGAGCCTCTCTT 0.652 NaN 0 0 0 1 0 47 92 CREB3L4 148327 broad.mit.edu 37 1 153941087 153941087 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:153941087G>A uc001fdn.3 + 2 352 c.86G>A c.(85-87)GGA>GAA p.G29E SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Missense_Mutation_p.G29E|CREB3L4_uc001fdm.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdp.1_Missense_Mutation_p.G29E|CREB3L4_uc010peg.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdr.2_Missense_Mutation_p.G29E|CREB3L4_uc001fdq.2_Missense_Mutation_p.G29E NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 29 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGGAGCTGGGACTCCACTGC 0.617 NaN 0 0 0 1 0 30 39 CREB3L4 148327 broad.mit.edu 37 1 153941855 153941855 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:153941855G>T uc001fdn.3 + 4 733 c.467G>T c.(466-468)AGT>ATT p.S156I SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.S9I|CREB3L4_uc001fdo.3_Missense_Mutation_p.S136I|CREB3L4_uc001fdm.1_Missense_Mutation_p.S156I|CREB3L4_uc001fdp.1_Missense_Mutation_p.S136I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.S156I|CREB3L4_uc001fdq.2_Missense_Mutation_p.S136I NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 156 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCATGGTCAGTGAGCTGCCC 0.557 NaN 1 0 1.62565e-12 1 1.69171e-12 35 45 KRTCAP2 200185 broad.mit.edu 37 1 155145044 155145044 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:155145044C>T uc001fho.2 - 3 324 c.298G>A c.(298-300)GAG>AAG p.E100K RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Missense_Mutation_p.E100K|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank NM_173852 NP_776251 Q8N6L1 KTAP2_HUMAN keratinocyte associated protein 2 100 Helical; (Potential). integral to membrane 0 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CACTTACTCTCAGGGAAGATC 0.418 NaN 0 0 0 1 0 18 41 ASH1L 55870 broad.mit.edu 37 1 155316194 155316194 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:155316194C>G uc009wqq.2 - 21 8365 c.7885G>C c.(7885-7887)GAC>CAC p.D2629H RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2624H|MIR555_hsa-mir-555|MI0003561_RNA NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2629 PHD-type. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGCCTTGGGTCACACTGCTCA 0.478 NaN 0 0 0 1 0 39 51 LRRC52 440699 broad.mit.edu 37 1 165532806 165532806 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:165532806G>A uc001gde.2 + 2 743 c.687G>A c.(685-687)GGG>GGA p.G229G LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 229 Extracellular (Potential).|LRRCT. integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CCCGGGTGGGGAACCCACTCC 0.557 NaN 0 0 0 1 0 13 26 DUSP27 92235 broad.mit.edu 37 1 167095044 167095044 + Missense_Mutation SNP G G A rs144186156 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:167095044G>A uc001geb.1 + 5 676 c.676G>A c.(676-678)GAA>AAA p.E226K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 226 Tyrosine-protein phosphatase. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GGTCAGCAGCGAAATGGGCAT 0.478 NaN 0 0 0 1 0 26 42 FMO2 2327 broad.mit.edu 37 1 171174530 171174530 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:171174530G>A uc001ghk.1 + 7 1057 c.940G>A c.(940-942)GAG>AAG p.E314K FMO2_uc010pmd.1_Missense_Mutation_p.E94K NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 314 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCATCTTTGAGGATGGAAC 0.413 NaN 0 0 0 1 0 25 32 RC3H1 149041 broad.mit.edu 37 1 173953689 173953689 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:173953689C>T uc001gju.3 - 2 387 c.300G>A c.(298-300)AAG>AAA p.K100K RC3H1_uc010pms.1_Silent_p.K100K|RC3H1_uc001gjv.2_Silent_p.K100K|RC3H1_uc010pmt.1_Silent_p.K100K NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 100 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTACACATTTCTTGGCTTCCT 0.383 NaN 0 0 0 1 0 12 16 C1orf125 126859 broad.mit.edu 37 1 179478451 179478451 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:179478451C>G uc001gmo.2 + 21 2536 c.2409C>G c.(2407-2409)ATC>ATG p.I803M C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 803 0 ATGAATGGATCAACACATGCT 0.348 NaN 0 0 0 1 0 14 30 CEP350 9857 broad.mit.edu 37 1 179993589 179993589 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:179993589G>A uc001gnt.2 + 14 3805 c.3422G>A c.(3421-3423)AGA>AAA p.R1141K CEP350_uc009wxl.2_Missense_Mutation_p.R1140K|CEP350_uc001gnu.2_Missense_Mutation_p.R974K NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1141 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 CATTCTAACAGAAAGTCTGCC 0.413 NaN 0 0 0 1 0 21 27 PLEKHA6 22874 broad.mit.edu 37 1 204228552 204228552 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228552C>G uc001hau.2 - 8 1158 c.841G>C c.(841-843)GGG>CGG p.G281R PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 281 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTGTGCTCCCTGGCCGGCTT 0.657 NaN 0 0 0 1 0 25 51 PLEKHA6 22874 broad.mit.edu 37 1 204228723 204228723 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228723C>G uc001hau.2 - 8 987 c.670G>C c.(670-672)GAG>CAG p.E224Q PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 224 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTGGCCTCTCAGGCCTTCTC 0.652 NaN 0 0 0 1 0 19 56 PLEKHA6 22874 broad.mit.edu 37 1 204228847 204228847 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228847C>G uc001hau.2 - 8 863 c.546G>C c.(544-546)GAG>GAC p.E182D PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 182 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GTGGGACGTTCTCCGAGTCTG 0.627 NaN 0 0 0 1 0 12 32 SYT14 255928 broad.mit.edu 37 1 210334350 210334350 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:210334350A>T uc009xcv.2 + 8 1703 c.1631A>T c.(1630-1632)CAG>CTG p.Q544L SYT14_uc001hhs.3_Missense_Mutation_p.Q608L|SYT14_uc001hht.3_Missense_Mutation_p.Q563L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.Q589L|SYT14_uc010pso.1_Missense_Mutation_p.Q506L|SYT14_uc010psp.1_Missense_Mutation_p.Q82L NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 544 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TCAAAAGGACAGCAAGTATGT 0.388 NaN 0 0 0 1 0 35 62 KCNK2 3776 broad.mit.edu 37 1 215259819 215259819 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:215259819C>T uc001hkq.2 + 2 324 c.155C>T c.(154-156)ACG>ATG p.T52M KCNK2_uc001hko.2_Missense_Mutation_p.T48M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T37M NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 52 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGAGTGACACGACCATTAAT 0.512 NaN 0 0 0 1 0 15 32 WDR26 80232 broad.mit.edu 37 1 224581534 224581534 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:224581534A>C uc001hop.3 - 13 1881 c.1515T>G c.(1513-1515)ATT>ATG p.I505M WDR26_uc001hoq.3_Missense_Mutation_p.I489M|WDR26_uc010pvh.1_Missense_Mutation_p.I212M NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 652 cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) TATTACCTTCAATATTCTGGT 0.388 NaN 0 0 0 1 0 25 41 PCNXL2 80003 broad.mit.edu 37 1 233394514 233394514 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:233394514C>T uc001hvl.2 - 5 1329 c.1094G>A c.(1093-1095)GGA>GAA p.G365E PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 365 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CAGTGGGTCTCCGGGTTGAGA 0.517 NaN 0 0 0 1 0 30 65 ZNF238 10472 broad.mit.edu 37 1 244218534 244218534 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:244218534G>A uc001iae.2 + 1 1953 c.1431G>A c.(1429-1431)CAG>CAA p.Q477Q ZNF238_uc001iad.3_Silent_p.Q486Q|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 477 C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) GGTTCACGCAGTCCGGGGACC 0.587 NaN 0 0 0 1 0 14 42 AHCTF1 25909 broad.mit.edu 37 1 247024465 247024465 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:247024465C>T uc001ibu.1 - 28 3875 c.3868G>A c.(3868-3870)GAA>AAA p.E1290K AHCTF1_uc001ibv.1_Missense_Mutation_p.E1299K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E151K|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1290 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-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;0.00271) TCATCCATTTCTTGATGCTCC 0.423 NaN 0 0 0 1 0 15 30 NLRP3 114548 broad.mit.edu 37 1 247588651 247588651 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:247588651G>A uc001icr.2 + 5 2044 c.1906G>A c.(1906-1908)GAG>AAG p.E636K NLRP3_uc001ics.2_Missense_Mutation_p.E636K|NLRP3_uc001icu.2_Missense_Mutation_p.E636K|NLRP3_uc001icw.2_Missense_Mutation_p.E636K|NLRP3_uc001icv.2_Missense_Mutation_p.E636K|NLRP3_uc010pyw.1_Missense_Mutation_p.E634K|NLRP3_uc001ict.1_Missense_Mutation_p.E634K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 636 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTGTTTGTACGAGATGCAGGA 0.478 NaN 0 0 0 1 0 20 30 KLF6 1316 broad.mit.edu 37 10 3824148 3824148 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:3824148G>A uc001iha.2 - 2 628 c.361C>T c.(361-363)CCC>TCC p.P121S KLF6_uc010qaj.1_Missense_Mutation_p.P121S|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.P121S|KLF6_uc001ihb.2_Missense_Mutation_p.P121S NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 121 B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) TTGGCCGTGGGAGAAAGTTCC 0.532 NaN OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 45 93 ATP5C1 509 broad.mit.edu 37 10 7844317 7844317 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:7844317C>T uc001iju.2 + 7 800 c.722C>T c.(721-723)TCT>TTT p.S241F ATP5C1_uc009xiq.1_Missense_Mutation_p.S241F|ATP5C1_uc010qbc.1_Missense_Mutation_p.S192F|ATP5C1_uc001ijv.2_Missense_Mutation_p.S241F NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 241 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 ATCTACTACTCTCTGAAGGAG 0.448 NaN 0 0 0 1 0 14 40 PRPF18 8559 broad.mit.edu 37 10 13652044 13652044 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:13652044G>C uc001imp.2 + 5 517 c.369G>C c.(367-369)TTG>TTC p.L123F PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 123 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 CTTAGGGATTGAGGAATGATT 0.383 NaN 0 0 0 1 0 23 62 THNSL1 79896 broad.mit.edu 37 10 25312422 25312422 + Silent SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:25312422C>A uc001isi.3 + 3 599 c.270C>A c.(268-270)ATC>ATA p.I90I ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 90 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) ATGATGATATCCTTGAAAAAA 0.383 NaN 1 0 1.06647e-15 1 1.11771e-15 38 73 GPR158 57512 broad.mit.edu 37 10 25464862 25464862 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:25464862C>G uc001isj.2 + 1 573 c.513C>G c.(511-513)ATC>ATG p.I171M LOC100128811_uc010qde.1_Missense_Mutation_p.E30D NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 171 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGCCCAGCATCTCCCGGGCGG 0.647 NaN 0 0 0 1 0 18 36 ABI1 10006 broad.mit.edu 37 10 27048155 27048155 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:27048155G>A uc001isx.2 - 9 1081 c.914C>T c.(913-915)TCA>TTA p.S305L ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 305 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 ACCAGGAGCTGAGCCCGGGGC 0.498 NaN 0 0 0 1 0 14 47 KIAA1462 57608 broad.mit.edu 37 10 30316005 30316005 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:30316005A>G uc001iux.2 - 2 3131 c.3072T>C c.(3070-3072)AGT>AGC p.S1024S KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.S886S|KIAA1462_uc009xle.1_Silent_p.S1024S NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1024 ovary(4) 4 TCTCTCCACCACTGTCAAACT 0.582 NaN 0 0 0 1 0 54 80 HK1 3098 broad.mit.edu 37 10 71119661 71119661 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:71119661G>A uc001jpl.3 + 3 336 c.235G>A c.(235-237)GAT>AAT p.D79N HK1_uc001jpg.3_Missense_Mutation_p.D67N|HK1_uc001jph.3_Missense_Mutation_p.D83N|HK1_uc001jpi.3_Missense_Mutation_p.D83N|HK1_uc001jpj.3_Missense_Mutation_p.D114N|HK1_uc001jpk.3_Missense_Mutation_p.D78N|HK1_uc009xqd.2_Intron NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 79 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 AGAAAAGGGAGATTTCATTGC 0.483 NaN 0 0 0 1 0 32 53 NPFFR1 64106 broad.mit.edu 37 10 72026099 72026099 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:72026099C>T uc010qjk.1 - 1 56 c.50G>A c.(49-51)GGG>GAG p.G17E NM_022146 NP_071429 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 19 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide receptor activity 0 AGTGTTAGTCCCATTCTGACT 0.552 NaN 0 0 0 1 0 5 21 CDH23 64072 broad.mit.edu 37 10 73553278 73553278 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:73553278C>A uc001jrx.3 + 46 6970 c.6593C>A c.(6592-6594)GCC>GAC p.A2198D CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2198 Cadherin 21.|Extracellular (Potential). EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AATATCACGGCCATTGACCAC 0.572 NaN 1 0 2.89027e-11 1 2.99713e-11 23 23 OIT3 170392 broad.mit.edu 37 10 74684374 74684374 + Missense_Mutation SNP G G A rs139078371 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:74684374G>A uc001jte.1 + 7 1557 c.1339G>A c.(1339-1341)GTC>ATC p.V447I OIT3_uc009xqs.1_Intron NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 447 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) GATCGACGAGGTCCTGAAATA 0.552 NaN 0 0 0 1 0 14 34 ECD 11319 broad.mit.edu 37 10 74899248 74899248 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:74899248G>A uc001jtn.2 - 11 1483 c.1240C>T c.(1240-1242)CAG>TAG p.Q414* ECD_uc009xqx.2_Nonsense_Mutation_p.Q447*|ECD_uc009xqy.2_Nonsense_Mutation_p.Q371*|ECD_uc001jto.2_Nonsense_Mutation_p.Q113* NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 414 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) TCTAACCACTGGTCATCTGAA 0.428 NaN 0 0 0 1 0 37 72 LRIT2 340745 broad.mit.edu 37 10 85984111 85984111 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:85984111C>T uc001kcy.2 - 2 878 c.870G>A c.(868-870)CTG>CTA p.L290L LRIT2_uc010qmc.1_Silent_p.L290L NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 290 Ig-like. integral to membrane ovary(2) 2 TCCACATACTCAGGGGATAAG 0.527 NaN 0 0 0 1 0 24 21 PLCE1 51196 broad.mit.edu 37 10 96012152 96012152 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:96012152C>G uc001kjk.2 + 9 3810 c.3176C>G c.(3175-3177)CCC>CGC p.P1059R PLCE1_uc010qnx.1_Missense_Mutation_p.P1059R|PLCE1_uc001kjm.2_Missense_Mutation_p.P751R NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1059 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GCTCGAAACCCCAGCCCCGGA 0.507 NaN 0 0 0 1 0 14 44 TLX1 3195 broad.mit.edu 37 10 102894051 102894051 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:102894051G>A uc001ksw.2 + 2 926 c.688G>A c.(688-690)GAG>AAG p.E230K NM_005521 NP_005512 P31314 TLX1_HUMAN T-cell leukemia homeobox 1 230 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGCCTCGGCCGAGCGCGCCGC 0.602 NaN T TRB@|TRD@ T-ALL 0 0 0 1 0 10 9 LDB1 8861 broad.mit.edu 37 10 103868831 103868831 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:103868831C>T uc009xwz.2 - 10 1303 c.960G>A c.(958-960)AAG>AAA p.K320K LDB1_uc001kuk.3_Silent_p.K284K|LDB1_uc001kul.3_Silent_p.K284K NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 320 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GGCTCTTCTTCTTGCTGTTGC 0.592 NaN 0 0 0 1 0 22 37 LDB1 8861 broad.mit.edu 37 10 103869736 103869736 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:103869736C>T uc009xwz.2 - 7 933 c.590G>A c.(589-591)TGG>TAG p.W197* LDB1_uc001kuk.3_Nonsense_Mutation_p.W161*|LDB1_uc001kul.3_Nonsense_Mutation_p.W161* NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 197 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GCTGAAGTGCCACGTCTTTAT 0.602 NaN 0 0 0 1 0 18 38 ABLIM1 3983 broad.mit.edu 37 10 116307492 116307492 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:116307492C>T uc010qsg.1 - 5 816 c.717G>A c.(715-717)CTG>CTA p.L239L ABLIM1_uc010qsh.1_Silent_p.L179L|ABLIM1_uc010qsi.1_Silent_p.L179L|ABLIM1_uc010qsk.1_Silent_p.L163L|ABLIM1_uc009xyp.2_Silent_p.L173L|ABLIM1_uc009xyo.2_Silent_p.L87L NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 239 LIM zinc-binding 3. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCAGCGCCAGCAGCGCCTGCC 0.552 NaN 0 0 0 1 0 12 19 WDR11 55717 broad.mit.edu 37 10 122637962 122637962 + Missense_Mutation SNP C C T rs112914841 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:122637962C>T uc010qtf.1 + 12 1892 c.1654C>T c.(1654-1656)CTT>TTT p.L552F WDR11_uc010qte.1_Missense_Mutation_p.L154F|WDR11_uc001lfd.1_Missense_Mutation_p.L70F NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 552 integral to membrane 0 ACTGGTTGATCTTCCAACAGG 0.333 NaN 0 0 0 1 0 16 28 TACC2 10579 broad.mit.edu 37 10 123846157 123846157 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:123846157C>T uc001lfv.2 + 4 4502 c.4142C>T c.(4141-4143)TCC>TTC p.S1381F TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S1381F|TACC2_uc010qtv.1_Missense_Mutation_p.S1381F NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1381 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAGAGCCTTCCCAGGACCCA 0.612 NaN 0 0 0 1 0 18 32 PSTK 118672 broad.mit.edu 37 10 124739930 124739930 + Translation_Start_Site SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:124739930G>A uc001lgy.1 + 1 375 c.-65G>A c.(-67--63)GCGTG>GCATG NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GACGCTGCGCGTGCGCGCAGG 0.692 NaN OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 3 3 UROS 7390 broad.mit.edu 37 10 127486691 127486691 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:127486691G>A uc001liw.3 - 6 551 c.418C>T c.(418-420)CTA>TTA p.L140L UROS_uc001liv.3_Silent_p.F19F|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Silent_p.L140L|UROS_uc001liy.3_RNA NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 140 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) CAGGGAAATAGAAGAGGCAGT 0.507 NaN 0 0 0 1 0 25 40 EBF3 253738 broad.mit.edu 37 10 131760444 131760444 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:131760444C>T uc001lki.1 - 4 461 c.402G>A c.(400-402)ATG>ATA p.M134I EBF3_uc010qur.1_3'UTR NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 134 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCTGTTTGGTCATTGAATCTA 0.488 NaN 0 0 0 1 0 16 35 HIPK3 10114 broad.mit.edu 37 11 33308756 33308756 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:33308756C>T uc001mul.1 + 2 1066 c.796C>T c.(796-798)CAG>TAG p.Q266* HIPK3_uc001mum.1_Nonsense_Mutation_p.Q266*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q266* NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 266 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TGAATGCTTTCAGCACCGTAA 0.368 NaN 0 0 0 1 0 6 87 C11orf41 25758 broad.mit.edu 37 11 33605015 33605015 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:33605015G>C uc001mup.3 + 10 3785 c.3661G>C c.(3661-3663)GAC>CAC p.D1221H C11orf41_uc001mun.1_Missense_Mutation_p.D1221H NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1215 integral to membrane ovary(2) 2 CTTCAAGCCTGACACCATGAT 0.567 NaN 0 0 0 1 0 2 0 PAMR1 25891 broad.mit.edu 37 11 35492234 35492234 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:35492234G>A uc001mwg.2 - 5 670 c.627C>T c.(625-627)AGC>AGT p.S209S PAMR1_uc001mwf.2_Silent_p.S209S|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.S169S NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 209 CUB. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGGATCCTATGCTCTGGATAG 0.522 NaN 0 0 0 1 0 15 14 TNKS1BP1 85456 broad.mit.edu 37 11 57076110 57076110 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:57076110G>A uc001njr.2 - 5 4387 c.4075C>T c.(4075-4077)CCA>TCA p.P1359S TNKS1BP1_uc001njs.2_Missense_Mutation_p.P1359S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P810S NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1359 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GCTTCACTTGGAGCCCCAAAG 0.652 NaN 0 0 0 1 0 48 104 RAB3IL1 5866 broad.mit.edu 37 11 61672126 61672126 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:61672126G>A uc001nso.2 - 7 949 c.791C>T c.(790-792)TCG>TTG p.S264L RAB3IL1_uc001nsp.2_Missense_Mutation_p.S238L NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 264 protein binding skin(2)|central_nervous_system(1) 3 TACCAGCACCGAGAGCTGTGG 0.692 NaN 0 0 0 1 0 3 10 TUT1 64852 broad.mit.edu 37 11 62342673 62342673 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:62342673C>T uc001nto.2 - 9 2670 c.2632G>A c.(2632-2634)GAC>AAC p.D878N EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.D374N NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 840 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 AGCATTCGGTCAGCCGGGGAG 0.567 NaN 0 0 0 1 0 28 46 ATL3 25923 broad.mit.edu 37 11 63398817 63398817 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:63398817G>C uc001nxk.1 - 12 1510 c.1234C>G c.(1234-1236)CGT>GGT p.R412G ATL3_uc010rms.1_Missense_Mutation_p.R394G|ATL3_uc010rmr.1_Missense_Mutation_p.R70G NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN atlastin 3 412 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding pancreas(1) 1 TGCTGGTAACGAAAGCTGAAA 0.463 NaN 0 0 0 1 0 39 60 CCDC88B 283234 broad.mit.edu 37 11 64119604 64119604 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:64119604C>G uc001nzy.2 + 19 3146 c.3102C>G c.(3100-3102)GCC>GCG p.A1034A CCDC88B_uc009ypo.1_Silent_p.A1031A|CCDC88B_uc001oaa.2_Silent_p.A186A|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1034 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 CATCCTAGGCCGAGAAGTCTG 0.667 NaN 0 0 0 1 0 16 20 CARNS1 57571 broad.mit.edu 37 11 67190990 67190990 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:67190990G>C uc009yrp.2 + 9 1854 c.1402G>C c.(1402-1404)GAT>CAT p.D468H PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.D607H NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 468 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 CCTCAAGCTAGATGGCTGCTT 0.627 NaN 0 0 0 1 0 10 15 SHANK2 22941 broad.mit.edu 37 11 70349010 70349010 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:70349010G>A uc001oqc.2 - 15 2166 c.2088C>T c.(2086-2088)GTC>GTT p.V696V SHANK2_uc010rqn.1_Silent_p.V108V|SHANK2_uc001opz.2_Silent_p.V108V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.V108V|SHANK2_uc001opy.2_5'Flank|SHANK2_uc010rqo.1_5'Flank NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 317 PDZ. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCCTGTGGCCGACTTTGACAA 0.582 NaN 0 0 0 1 0 8 59 DHCR7 1717 broad.mit.edu 37 11 71152464 71152464 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:71152464G>A uc001oqk.2 - 6 685 c.435C>T c.(433-435)ATC>ATT p.I145I DHCR7_uc001oql.2_Silent_p.I145I NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 145 I -> L (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) GCAGGCCATTGATCTGATACT 0.552 NaN Smith-Lemli-Opitz_syndrome 0 0 0 1 0 17 18 MAP6 4135 broad.mit.edu 37 11 75298823 75298823 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:75298823G>A uc001owu.2 - 4 1788 c.1723C>T c.(1723-1725)CCT>TCT p.P575S NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 575 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GGGACCATAGGAGCTTGATTC 0.502 NaN 0 0 0 1 0 59 100 CARD16 114769 broad.mit.edu 37 11 104912200 104912200 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:104912200T>C uc001pip.1 - 3 548 c.521A>G c.(520-522)CAT>CGT p.H174R CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 174 regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 AGATCCTTTATGCAAGGGGAG 0.383 NaN 0 0 0 1 0 32 53 ALKBH8 91801 broad.mit.edu 37 11 107427575 107427575 + Missense_Mutation SNP C C T rs150490382 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:107427575C>T uc010rvr.1 - 3 359 c.284G>A c.(283-285)AGA>AAA p.R95K ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.R95K|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 95 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AACATAGGCTCTCTTAGATTC 0.378 NaN 0 0 0 1 0 20 32 C11orf65 160140 broad.mit.edu 37 11 108277655 108277655 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:108277655A>G uc001pkh.2 - 5 334 c.264T>C c.(262-264)TTT>TTC p.F88F C11orf65_uc010rvx.1_Silent_p.F39F|C11orf65_uc009yxu.1_RNA NM_152587 NP_689800 Q8NCR3 CK065_HUMAN hypothetical protein LOC160140 88 ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) GTCTGTGAGTAAAAATCTTAT 0.313 NaN 0 0 0 1 0 25 32 DIXDC1 85458 broad.mit.edu 37 11 111853158 111853158 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:111853158G>A uc001pml.2 + 8 1162 c.865G>A c.(865-867)GAA>AAA p.E289K DIXDC1_uc001pmm.2_Missense_Mutation_p.E78K|DIXDC1_uc001pmn.2_5'UTR NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 289 Potential.|Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GGAACAACAAGAATATTTAGA 0.423 NaN OREG0021331 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 8 13 CDON 50937 broad.mit.edu 37 11 125848278 125848278 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:125848278C>T uc009zbw.2 - 18 3405 c.3277G>A c.(3277-3279)GGT>AGT p.G1093S CDON_uc001qdb.3_Missense_Mutation_p.G470S|CDON_uc001qdc.3_Missense_Mutation_p.G1093S NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 1093 Cytoplasmic (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ATTCCACCACCCTGGACAGGA 0.443 NaN 0 0 0 1 0 4 10 KCNJ1 3758 broad.mit.edu 37 11 128709869 128709869 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:128709869G>A uc001qeo.1 - 2 378 c.327C>T c.(325-327)CTC>CTT p.L109L KCNJ1_uc001qep.1_Silent_p.L90L|KCNJ1_uc001qeq.1_Silent_p.L90L|KCNJ1_uc001qer.1_Silent_p.L90L|KCNJ1_uc001qes.1_Silent_p.L90L NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 109 Extracellular (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GGAATTCCGGGAGGTCTTTGT 0.448 NaN 0 0 0 1 0 42 68 ST14 6768 broad.mit.edu 37 11 130066285 130066285 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:130066285G>T uc001qfw.2 + 10 1358 c.1165G>T c.(1165-1167)GAG>TAG p.E389* ST14_uc010sca.1_Nonsense_Mutation_p.E199* NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 389 CUB 2.|Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CTACCTGCTGGAGCCCGGCGT 0.637 NaN 1 0 1.23904e-05 1 1.25394e-05 4 11 NRIP2 83714 broad.mit.edu 37 12 2944131 2944131 + Missense_Mutation SNP G G C rs146664830 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:2944131G>C uc001qlc.2 - 1 91 c.19C>G c.(19-21)CTT>GTT p.L7V NRIP2_uc010sed.1_Missense_Mutation_p.L7V|uc009zdz.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 7 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGGAGGGAAAGAGGAAAAATA 0.562 NaN 0 0 0 1 0 15 23 VWF 7450 broad.mit.edu 37 12 6161924 6161924 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:6161924C>T uc001qnn.1 - 16 2221 c.1971G>A c.(1969-1971)GTG>GTA p.V657V VWF_uc010set.1_Silent_p.V657V NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 657 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) ACTGCAGGTACACCTGGCCTT 0.597 NaN 0 0 0 1 0 11 26 C1RL 51279 broad.mit.edu 37 12 7254567 7254567 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:7254567G>A uc001qsn.2 - 3 434 c.417C>T c.(415-417)TTC>TTT p.F139F C1RL_uc009zft.2_Silent_p.F139F|C1RL_uc001qso.1_Silent_p.F139F NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 139 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 GCTGTGTGCGGAAGGTCAGCC 0.627 NaN 0 0 0 1 0 50 76 DUSP16 80824 broad.mit.edu 37 12 12630261 12630261 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:12630261G>C uc001rao.1 - 7 2136 c.1504C>G c.(1504-1506)CCA>GCA p.P502A DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.P354A NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 502 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CGATGCAGTGGAGATAAAAGG 0.587 NaN 0 0 0 1 0 37 58 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:20523043G>A uc001reh.1 + 1 847 c.825G>A c.(823-825)CTG>CTA p.L275L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627 NaN 0 0 0 1 0 17 29 OVCH1 341350 broad.mit.edu 37 12 29639199 29639199 + Silent SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:29639199T>G uc001rix.1 - 8 975 c.975A>C c.(973-975)GGA>GGC p.G325G NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 325 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CTCTCTGGCTTCCATTCACTT 0.443 NaN 0 0 0 1 0 21 31 CAPRIN2 65981 broad.mit.edu 37 12 30881858 30881858 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:30881858C>T uc001rji.1 - 8 2257 c.1506G>A c.(1504-1506)CAG>CAA p.Q502Q CAPRIN2_uc001rjf.1_Silent_p.Q299Q|CAPRIN2_uc001rjg.1_Silent_p.Q169Q|CAPRIN2_uc001rjh.1_Silent_p.Q502Q|CAPRIN2_uc001rjj.1_Silent_p.Q169Q|CAPRIN2_uc001rjk.3_Silent_p.Q502Q|CAPRIN2_uc001rjl.3_Silent_p.Q502Q|CAPRIN2_uc001rjm.1_Silent_p.Q169Q|CAPRIN2_uc001rjn.1_Silent_p.Q169Q NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 502 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTTGTTCTTTCTGCAGCTGAA 0.473 NaN 0 0 0 1 0 55 75 ARID2 196528 broad.mit.edu 37 12 46244139 46244139 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:46244139C>T uc001ros.1 + 15 2233 c.2233C>T c.(2233-2235)CAG>TAG p.Q745* ARID2_uc001ror.2_Nonsense_Mutation_p.Q745*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q201*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q372*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q79* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 745 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCTGTTGTTCAGAATCATAG 0.443 NaN 0 0 0 1 0 41 51 RND1 27289 broad.mit.edu 37 12 49255809 49255809 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:49255809C>T uc001rsn.2 - 3 404 c.301G>A c.(301-303)GAC>AAC p.D101N NM_014470 NP_055285 Q92730 RND1_HUMAN GTP-binding protein RHO6 precursor 101 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding ovary(1) 1 AGTGCGCTGTCCACTGTCTCT 0.448 NaN 0 0 0 1 0 24 28 PRPF40B 25766 broad.mit.edu 37 12 50036434 50036434 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:50036434C>T uc001rur.1 + 20 2092 c.2028C>T c.(2026-2028)TTC>TTT p.F676F FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.F698F|PRPF40B_uc001ruq.1_Silent_p.F663F|PRPF40B_uc001rus.1_Silent_p.F619F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 676 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 TCCGGCTCTTCCGGGAGTTCC 0.567 NaN 0 0 0 1 0 16 22 RARG 5916 broad.mit.edu 37 12 53607432 53607432 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:53607432G>A uc001sce.2 - 8 1351 c.866C>T c.(865-867)TCC>TTC p.S289F RARG_uc001scd.2_Missense_Mutation_p.S278F|RARG_uc010sob.1_Missense_Mutation_p.S267F|RARG_uc001scf.2_Missense_Mutation_p.S289F|RARG_uc001scg.2_Missense_Mutation_p.S217F|RARG_uc010soc.1_Missense_Mutation_p.S168F|RARG_uc010sod.1_Missense_Mutation_p.S326F NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 289 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CAGCCCGTCGGAGAAGGTCAT 0.622 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 15 38 RARG 5916 broad.mit.edu 37 12 53607867 53607867 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:53607867G>C uc001sce.2 - 7 1274 c.789C>G c.(787-789)CTC>CTG p.L263L RARG_uc001scd.2_Silent_p.L252L|RARG_uc010sob.1_Silent_p.L241L|RARG_uc001scf.2_Silent_p.L263L|RARG_uc001scg.2_Silent_p.L191L|RARG_uc010soc.1_Silent_p.L142L|RARG_uc010sod.1_Silent_p.L300L NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 263 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCAGCTTTGAGCAGAGTGA 0.532 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 66 136 SMUG1 23583 broad.mit.edu 37 12 54576210 54576210 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:54576210G>C uc001sff.1 - 4 612 c.483C>G c.(481-483)GTC>GTG p.V161V SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.V161V|SMUG1_uc009znf.1_Silent_p.V161V|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 161 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 ATAGATTGTGGACAAAACAGT 0.562 NaN BER_DNA_glycosylases 0 0 0 1 0 34 74 ERBB3 2065 broad.mit.edu 37 12 56490853 56490853 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:56490853G>A uc001sjh.2 + 20 2492 c.2299G>A c.(2299-2301)GAC>AAC p.D767N ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.D124N|ERBB3_uc010sqc.1_Missense_Mutation_p.D708N|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Missense_Mutation_p.D8N NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 767 Cytoplasmic (Potential).|Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGGCAGCCTGGACCATGCCCA 0.512 NaN 0 0 0 1 0 29 35 ANKRD52 283373 broad.mit.edu 37 12 56637606 56637606 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:56637606C>T uc001skm.3 - 27 3033 c.2943G>A c.(2941-2943)CTG>CTA p.L981L NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 981 ANK 28. protein binding ovary(2) 2 CCCCATGACTCAGCAGGGCCT 0.567 NaN 0 0 0 1 0 4 0 STAC3 246329 broad.mit.edu 37 12 57637672 57637672 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:57637672C>T uc001snp.2 - 12 1213 c.1018G>A c.(1018-1020)GAA>AAA p.E340K STAC3_uc009zpl.2_Missense_Mutation_p.R57Q|STAC3_uc001snq.2_Missense_Mutation_p.E301K|STAC3_uc010srm.1_Missense_Mutation_p.E154K NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 340 SH3 2. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 CCGCCCGCTTCGTCTCCTTTC 0.562 NaN OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 4 16 ARHGAP9 64333 broad.mit.edu 37 12 57870952 57870952 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:57870952G>A uc001sod.2 - 8 1263 c.1070C>T c.(1069-1071)CCG>CTG p.P357L ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.P102L|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soc.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soe.1_Missense_Mutation_p.P365L|ARHGAP9_uc010sro.1_Missense_Mutation_p.P286L NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 286 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TGGGTCAAGCGGTTCTGGGGT 0.522 NaN 0 0 0 1 0 21 41 GNS 2799 broad.mit.edu 37 12 65130795 65130795 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:65130795G>C uc001ssg.3 - 9 1257 c.1087C>G c.(1087-1089)CAG>GAG p.Q363E GNS_uc001ssf.2_Missense_Mutation_p.Q307E|GNS_uc010ssq.1_Missense_Mutation_p.Q395E|GNS_uc010ssr.1_Missense_Mutation_p.Q343E NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 363 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) TTGCTTGTCTGATTTGGTTTG 0.453 NaN 0 0 0 1 0 14 27 ZFC3H1 196441 broad.mit.edu 37 12 72024481 72024481 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:72024481G>C uc001swo.2 - 18 3982 c.3623C>G c.(3622-3624)ACA>AGA p.T1208R NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1208 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TCGGCTAAGTGTATAGTCTTG 0.318 NaN 0 0 0 1 0 14 30 C12orf26 84190 broad.mit.edu 37 12 82752565 82752565 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:82752565C>T uc001szq.2 + 1 242 c.221C>T c.(220-222)TCA>TTA p.S74L CCDC59_uc001szp.3_5'Flank NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 74 0 GCCCTGCCCTCAGAGACGCGC 0.662 NaN OREG0022008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 23 38 UHRF1BP1L 23074 broad.mit.edu 37 12 100452766 100452766 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:100452766C>T uc001tgq.2 - 14 2518 c.2289G>A c.(2287-2289)TTG>TTA p.L763L UHRF1BP1L_uc001tgp.2_Silent_p.L413L NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 763 ovary(2) 2 TCTTCCGCTTCAATCGGCCAG 0.403 NaN 0 0 0 1 0 47 59 CHPT1 56994 broad.mit.edu 37 12 102107962 102107962 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:102107962C>T uc001tin.2 + 2 591 c.368C>T c.(367-369)TCT>TTT p.S123F CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.S123F NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 123 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 AGAACAAACTCTTGTTCCCCT 0.378 NaN 0 0 0 1 0 37 95 CKAP4 10970 broad.mit.edu 37 12 106633728 106633728 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:106633728C>T uc001tlk.2 - 2 967 c.883G>A c.(883-885)GAG>AAG p.E295K NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 295 Potential. ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 GTCTGTATCTCCTTCACAGCT 0.517 NaN 0 0 0 1 0 35 86 ALKBH2 121642 broad.mit.edu 37 12 109530580 109530580 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:109530580G>A uc001tnx.2 - 2 405 c.12C>T c.(10-12)TTC>TTT p.F4F ALKBH2_uc001tny.2_Silent_p.F4F|ALKBH2_uc010sxj.1_Silent_p.F4F|ALKBH2_uc009zvd.2_Silent_p.F4F|ALKBH2_uc010sxk.1_Silent_p.F4F NM_001145374 NP_001138846 Q6NS38 ALKB2_HUMAN AlkB homolog 2 4 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) CTTTCACCAGGAATCTGTCCA 0.522 NaN Direct_reversal_of_damage 0 0 0 1 0 39 83 ATXN2 6311 broad.mit.edu 37 12 111951193 111951193 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:111951193G>A uc001tsj.2 - 11 2168 c.2006C>T c.(2005-2007)TCG>TTG p.S669L ATXN2_uc001tsh.2_Missense_Mutation_p.S404L|ATXN2_uc001tsi.2_Missense_Mutation_p.S380L|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S404L NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 669 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CGTTCCCCCCGAGGGACTGGT 0.512 NaN 0 0 0 1 0 19 32 DTX1 1840 broad.mit.edu 37 12 113515257 113515257 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:113515257C>T uc001tuk.1 + 2 624 c.288C>T c.(286-288)TTC>TTT p.F96F NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 96 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GGCGCAACTTCTACGACCCGT 0.672 NaN 0 0 0 1 0 13 26 VPS37B 79720 broad.mit.edu 37 12 123353041 123353041 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:123353041C>G uc001udl.2 - 3 455 c.352G>C c.(352-354)GAG>CAG p.E118Q NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 118 VPS37 C-terminal.|Interaction with IST1. 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) GTGTCTTCCTCAATCTTGGCC 0.557 NaN 0 0 0 1 0 4 14 PIWIL1 9271 broad.mit.edu 37 12 130839176 130839176 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:130839176C>G uc001uik.2 + 10 1229 c.1139C>G c.(1138-1140)GCC>GGC p.A380G PIWIL1_uc001uij.1_Missense_Mutation_p.A380G NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 380 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CCAGGGCCTGCCATGCTCATT 0.537 NaN 0 0 0 1 0 36 79 THSD1 55901 broad.mit.edu 37 13 52952424 52952424 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:52952424C>G uc001vgo.2 - 5 2226 c.1681G>C c.(1681-1683)GAC>CAC p.D561H THSD1_uc001vgp.2_Missense_Mutation_p.D508H|THSD1_uc010tgz.1_Missense_Mutation_p.D182H|THSD1_uc010aea.2_Missense_Mutation_p.D22H NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 561 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATGGCAGTGTCTGTCAGGGGA 0.522 NaN 0 0 0 1 0 72 30 SLITRK5 26050 broad.mit.edu 37 13 88328436 88328436 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:88328436G>A uc001vln.2 + 2 1012 c.793G>A c.(793-795)GAG>AAG p.E265K SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 265 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTAGTTTGTGAGACCCCCTT 0.512 NaN 0 0 0 1 0 38 61 GPC5 2262 broad.mit.edu 37 13 92345823 92345823 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:92345823C>G uc010tif.1 + 3 1074 c.708C>G c.(706-708)ATC>ATG p.I236M NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 236 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTGAAGTCATCAACACCACAG 0.532 NaN 0 0 0 1 0 24 40 DOCK9 23348 broad.mit.edu 37 13 99532219 99532219 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:99532219G>A uc001vnt.2 - 27 2934 c.2879C>T c.(2878-2880)TCA>TTA p.S960L DOCK9_uc001vnw.2_Missense_Mutation_p.S959L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.S960L|DOCK9_uc010tis.1_Missense_Mutation_p.S959L|DOCK9_uc010tit.1_Missense_Mutation_p.S960L|DOCK9_uc010afu.1_Missense_Mutation_p.S806L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 960 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAAAAACCATGAGTACTAAAA 0.239 NaN 0 0 0 1 0 15 29 ERCC5 2073 broad.mit.edu 37 13 103468829 103468829 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:103468829G>A uc001vpu.1 + 2 652 c.530G>A c.(529-531)AGA>AAA p.R177K BIVM_uc001vps.2_Missense_Mutation_p.R177K|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.R177K NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein Error:Variant_position_missing_in_P28715_after_alignment negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAAAGGGAAGATATCAGAAG 0.328 NaN Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 21 30 MYO16 23026 broad.mit.edu 37 13 109507866 109507866 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:109507866G>A uc001vqt.1 + 11 1384 c.1258G>A c.(1258-1260)GAG>AAG p.E420K MYO16_uc010agk.1_Missense_Mutation_p.E442K|MYO16_uc001vqu.1_Missense_Mutation_p.E220K NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 420 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTGCTCTATGAGATTCAGAA 0.478 NaN 0 0 0 1 0 14 13 CARS2 79587 broad.mit.edu 37 13 111357910 111357910 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:111357910C>T uc001vrd.2 - 2 273 c.233G>A c.(232-234)TGT>TAT p.C78Y CARS2_uc010tjm.1_Intron NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 78 Zinc (By similarity). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) AGTTGGTCCACAGCTATACCT 0.353 NaN 0 0 0 1 0 12 29 HEATR5A 25938 broad.mit.edu 37 14 31782285 31782285 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:31782285C>T uc001wrf.3 - 22 3528 c.3451G>A c.(3451-3453)GAC>AAC p.D1151N HEATR5A_uc010ami.2_Missense_Mutation_p.D1049N NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1438 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TAGACTAAGTCAAGCAGTCCA 0.428 NaN 0 0 0 1 0 37 30 ARHGAP5 394 broad.mit.edu 37 14 32624002 32624002 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:32624002G>A uc001wrl.2 + 7 4596 c.4357G>A c.(4357-4359)GAA>AAA p.E1453K ARHGAP5_uc001wrm.2_Missense_Mutation_p.E1452K|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E1453K|ARHGAP5_uc001wro.2_Missense_Mutation_p.E192K|ARHGAP5_uc001wrp.2_Missense_Mutation_p.E188K NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1453 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTACAATGGAGAAATTGTAGA 0.418 NaN 0 0 0 1 0 26 11 C14orf135 64430 broad.mit.edu 37 14 60591527 60591527 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:60591527C>G uc001xer.3 + 8 2458 c.1936C>G c.(1936-1938)CTA>GTA p.L646V C14orf135_uc001xeq.2_Missense_Mutation_p.L646V|C14orf135_uc010apm.2_RNA NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 880 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) CAAAGCAGTTCTATTAGGATA 0.408 NaN 0 0 0 1 0 67 52 HIF1A 3091 broad.mit.edu 37 14 62200933 62200933 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:62200933C>T uc001xfq.2 + 8 1362 c.958C>T c.(958-960)CAA>TAA p.Q320* HIF1A_uc001xfr.2_Nonsense_Mutation_p.Q320*|HIF1A_uc001xfs.2_Nonsense_Mutation_p.Q321* NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 320 Interaction with TSGA10 (By similarity).|PAC. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) GGTTGAAACTCAAGCAACTGT 0.383 NaN 0 0 0 1 0 19 5 SYNE2 23224 broad.mit.edu 37 14 64453240 64453240 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:64453240G>A uc001xgm.2 + 19 2448 c.2218G>A c.(2218-2220)GAA>AAA p.E740K SYNE2_uc001xgl.2_Missense_Mutation_p.E740K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 740 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAAAGATGTTGAAAAACTCAT 0.388 NaN 0 0 0 1 0 14 24 ZFYVE26 23503 broad.mit.edu 37 14 68238913 68238913 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:68238913G>A uc001xka.2 - 28 5474 c.5335C>T c.(5335-5337)CAT>TAT p.H1779Y ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1779Y NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1779 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTAGGGGAATGTATACTGGAG 0.428 NaN 0 0 0 1 0 8 3 ZFYVE1 53349 broad.mit.edu 37 14 73444931 73444931 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:73444931C>T uc001xnm.2 - 7 2071 c.1431G>A c.(1429-1431)GAG>GAA p.E477E ZFYVE1_uc001xnl.2_Silent_p.E62E|ZFYVE1_uc010arj.2_Silent_p.E477E NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 477 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCTCGCCTCTCTCATAGCAGG 0.363 NaN 0 0 0 1 0 22 18 FOS 2353 broad.mit.edu 37 14 75747770 75747770 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:75747770G>T uc001xrn.2 + 4 991 c.786G>T c.(784-786)ATG>ATT p.M262I FOS_uc010tva.1_Missense_Mutation_p.M226I|FOS_uc010asi.2_Missense_Mutation_p.M148I|FOS_uc001xro.2_Missense_Mutation_p.M114I NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 262 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) TCAGCAGCATGGAGCTGAAGA 0.597 NaN 1 0 3.62531e-18 1 3.80625e-18 37 28 FLVCR2 55640 broad.mit.edu 37 14 76107307 76107307 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:76107307G>A uc001xrs.2 + 7 1621 c.1245G>A c.(1243-1245)ATG>ATA p.M415I FLVCR2_uc010tvd.1_Missense_Mutation_p.M210I NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 415 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) GCTTCTTTATGACTGGCTATC 0.522 NaN 0 0 0 1 0 14 20 ADCK1 57143 broad.mit.edu 37 14 78325484 78325484 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:78325484G>A uc001xui.2 + 4 384 c.285G>A c.(283-285)AAG>AAA p.K95K ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 102 extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CCTTCATCAAGGTGGGCCAGC 0.617 NaN 0 0 0 1 0 28 27 PTPN21 11099 broad.mit.edu 37 14 88974366 88974366 + Splice_Site SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:88974366T>C uc001xwv.3 - 4 682 c.351_splice c.e4-1 p.R117_splice PTPN21_uc010twc.1_Splice_Site|PTPN21_uc010atf.1_Splice_Site_p.R117_splice NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TACTGATACCTATAAAAAATG 0.338 NaN 0 0 0 1 0 10 6 CCDC88C 440193 broad.mit.edu 37 14 91806270 91806270 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:91806270G>A uc010aty.2 - 7 681 c.582C>T c.(580-582)CTC>CTT p.L194L CCDC88C_uc010twk.1_Silent_p.L158L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 194 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TCCGCAGGTGGAGCACCATGC 0.662 NaN 0 0 0 1 0 6 2 EXD1 161829 broad.mit.edu 37 15 41482260 41482260 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:41482260C>T uc001znk.2 - 9 948 c.757G>A c.(757-759)GCT>ACT p.A253T EXD1_uc001znj.2_Missense_Mutation_p.A51T|EXD1_uc010ucv.1_Missense_Mutation_p.A311T NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 253 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 AGGTAGGTAGCTTCCAGGGCC 0.463 NaN 0 0 0 1 0 37 12 PLA2G4F 255189 broad.mit.edu 37 15 42434263 42434263 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:42434263G>A uc001zoz.2 - 20 2532 c.2469C>T c.(2467-2469)GTC>GTT p.V823V PLA2G4F_uc010bcq.2_Silent_p.V120V|PLA2G4F_uc001zoy.2_Silent_p.V455V|PLA2G4F_uc010bcr.2_Silent_p.V574V|PLA2G4F_uc001zpa.2_Silent_p.V574V|PLA2G4F_uc010bcs.2_Silent_p.V610V NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 823 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CGTTGTTCAGGACGTTGTATC 0.597 NaN 0 0 0 1 0 25 13 SPG11 80208 broad.mit.edu 37 15 44876484 44876484 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:44876484C>G uc001ztx.2 - 30 5425 c.5394G>C c.(5392-5394)GAG>GAC p.E1798D SPG11_uc010bdw.2_Missense_Mutation_p.E87D|SPG11_uc010ueh.1_Missense_Mutation_p.E1798D|SPG11_uc010uei.1_Missense_Mutation_p.E1798D|SPG11_uc001zty.1_Missense_Mutation_p.E527D NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1798 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGATCTGCTTCTCCAGCTCCT 0.567 NaN 0 0 0 1 0 16 18 SNX22 79856 broad.mit.edu 37 15 64445876 64445876 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:64445876G>A uc002anc.1 + 5 444 c.385G>A c.(385-387)GAC>AAC p.D129N SNX22_uc002amz.1_Missense_Mutation_p.D101N|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 129 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 CCTGCCTGGCGACAGCAGGCA 0.647 NaN OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 21 16 DPP8 54878 broad.mit.edu 37 15 65759415 65759415 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:65759415G>A uc002aov.2 - 13 3309 c.1731C>T c.(1729-1731)ATC>ATT p.I577I DPP8_uc002aow.2_Silent_p.I577I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.I561I|DPP8_uc002aoy.2_Silent_p.I577I|DPP8_uc002aoz.2_Silent_p.I561I|DPP8_uc010bhj.2_Silent_p.I577I|DPP8_uc002apa.2_Silent_p.I474I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Silent_p.I146I NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 577 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 ATACCTGACTGATGCAGCAAG 0.408 NaN 0 0 0 1 0 12 11 MYO9A 4649 broad.mit.edu 37 15 72186109 72186109 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:72186109C>T uc002atl.3 - 26 5526 c.5053G>A c.(5053-5055)GAA>AAA p.E1685K MYO9A_uc002atn.1_Missense_Mutation_p.E1666K|MYO9A_uc002atk.2_Missense_Mutation_p.E409K|MYO9A_uc002atm.1_Missense_Mutation_p.E409K NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1685 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TTTAAGGCTTCTTTGCTGACA 0.378 NaN 0 0 0 1 0 11 10 CSK 1445 broad.mit.edu 37 15 75091647 75091647 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:75091647G>A uc010bkb.1 + 6 460 c.277G>A c.(277-279)GAG>AAG p.E93K CSK_uc002ays.2_Missense_Mutation_p.E93K|CSK_uc010bkc.1_5'UTR NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 93 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 GGAGCAGGCTGAGCGGCTTCT 0.632 NaN 0 0 0 1 0 11 16 ADAMTS7 11173 broad.mit.edu 37 15 79063930 79063930 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:79063930G>A uc002bej.3 - 15 2584 c.2373C>T c.(2371-2373)ATC>ATT p.I791I ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.I791I NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 791 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CAGGCACCTGGATCCAGACAG 0.657 NaN 0 0 0 1 0 7 4 ACAN 176 broad.mit.edu 37 15 89386642 89386642 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:89386642G>A uc010upo.1 + 6 1188 c.814G>A c.(814-816)GAG>AAG p.E272K ACAN_uc002bmx.2_Missense_Mutation_p.E272K|ACAN_uc010upp.1_Missense_Mutation_p.E272K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 272 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGCAGCCAATGAGTGCCGGCG 0.642 NaN 0 0 0 1 0 12 11 C15orf42 90381 broad.mit.edu 37 15 90119460 90119460 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:90119460G>A uc002boe.2 + 1 643 c.643G>A c.(643-645)GAA>AAA p.E215K NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 215 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGATACCACCGAATGGTCTAA 0.542 NaN 0 0 0 1 0 10 11 CIB1 10519 broad.mit.edu 37 15 90774617 90774617 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:90774617G>A uc002bpb.3 - 4 480 c.318C>T c.(316-318)ATC>ATT p.I106I C15orf58_uc002bpc.2_5'Flank NM_006384 NP_006375 Q99828 CIB1_HUMAN calcium and integrin binding 1 106 EF-hand 1. apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AATGGGACTTGATGTCTGGCG 0.572 NaN 0 0 0 1 0 14 12 LINS1 55180 broad.mit.edu 37 15 101109805 101109805 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:101109805C>G uc002bwe.2 - 8 2203 c.1912G>C c.(1912-1914)GAA>CAA p.E638Q LINS1_uc002bwd.2_Missense_Mutation_p.E225Q|LINS1_uc002bwf.2_Missense_Mutation_p.E638Q|LINS1_uc002bwg.2_Missense_Mutation_p.E638Q|LINS1_uc002bwh.2_Missense_Mutation_p.E638Q NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 638 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TCTGTGGATTCCACGTCAGAA 0.493 NaN 0 0 0 1 0 40 24 SRRM2 23524 broad.mit.edu 37 16 2812478 2812478 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:2812478G>A uc002crk.2 + 11 2498 c.1949G>A c.(1948-1950)AGA>AAA p.R650K SRRM2_uc002crj.1_Missense_Mutation_p.R554K|SRRM2_uc002crl.1_Missense_Mutation_p.R650K|SRRM2_uc010bsu.1_Missense_Mutation_p.R554K NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 650 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCACGCTCTAGAACCCCAGCT 0.612 NaN 0 0 0 1 0 34 51 ZNF263 10127 broad.mit.edu 37 16 3340089 3340089 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:3340089C>T uc002cuq.2 + 6 1915 c.1583C>T c.(1582-1584)TCT>TTT p.S528F ZNF263_uc010uww.1_Missense_Mutation_p.S176F|ZNF263_uc002cur.2_Missense_Mutation_p.S176F NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 528 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 AAAAGTTTCTCTCGGAGTTCA 0.507 NaN 0 0 0 1 0 10 34 ERCC4 2072 broad.mit.edu 37 16 14042169 14042169 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:14042169G>C uc002dce.2 + 11 2725 c.2716G>C c.(2716-2718)GCA>CCA p.A906P ERCC4_uc010uyz.1_Missense_Mutation_p.A456P NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 906 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CACCTCTTTTGCAGAAGTCGT 0.448 NaN Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 35 58 BFAR 51283 broad.mit.edu 37 16 14738279 14738279 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:14738279C>T uc002dco.2 + 2 357 c.76C>T c.(76-78)CAG>TAG p.Q26* BFAR_uc002dcm.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcn.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcp.2_Nonsense_Mutation_p.Q26*|BFAR_uc010uzh.1_5'UTR NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 26 Cytoplasmic (Potential). anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding ovary(1)|skin(1) 2 CACCGGCCCTCAGATTTCTGT 0.493 NaN 0 0 0 1 0 40 63 C16orf62 57020 broad.mit.edu 37 16 19619564 19619564 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:19619564G>C uc002dgn.1 + 10 861 c.849G>C c.(847-849)AAG>AAC p.K283N C16orf62_uc002dgo.1_Missense_Mutation_p.K283N|C16orf62_uc002dgp.1_Missense_Mutation_p.K32N|C16orf62_uc010vas.1_Missense_Mutation_p.K157N|C16orf62_uc002dgm.1_Missense_Mutation_p.K283N NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 283 integral to membrane ovary(1) 1 GGTTTTTCAAGATTGCCTCCA 0.353 NaN 0 0 0 1 0 23 52 LOC81691 81691 broad.mit.edu 37 16 20837242 20837242 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:20837242G>A uc002dhv.2 + 8 1056 c.793G>A c.(793-795)GAA>AAA p.E265K ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.E265K|LOC81691_uc002dhw.2_Missense_Mutation_p.E8K|LOC81691_uc002dhy.3_Missense_Mutation_p.E265K NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 265 Exonuclease. nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 GGTCAAACCTGAAAACAAGAT 0.473 NaN 0 0 0 1 0 5 13 CRYM 1428 broad.mit.edu 37 16 21272618 21272618 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:21272618C>T uc002dik.2 - 7 922 c.837G>A c.(835-837)GTG>GTA p.V279V CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.V237V|CRYM_uc002dim.2_Silent_p.V279V NM_001888 NP_001879 Q14894 CRYM_HUMAN crystallin, mu isoform 1 279 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity 0 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) GGGCTGGTTTCACTCCCTTAA 0.517 NaN 0 0 0 1 0 14 26 OTOA 146183 broad.mit.edu 37 16 21721355 21721355 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:21721355C>T uc002djh.2 + 12 1252 c.1251C>T c.(1249-1251)CTC>CTT p.L417L uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L338L|OTOA_uc002dji.2_Silent_p.L93L|OTOA_uc010vbk.1_Silent_p.L65L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 431 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) TCTCCACCCTCAACCAGGTCT 0.517 NaN 0 0 0 1 0 13 23 HS3ST2 9956 broad.mit.edu 37 16 22826363 22826363 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:22826363C>T uc002dli.2 + 1 504 c.432C>T c.(430-432)GGC>GGT p.G144G HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 144 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) GGGCCTTGGGCACGGAACCCC 0.647 NaN 0 0 0 1 0 10 16 COG7 91949 broad.mit.edu 37 16 23400346 23400346 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:23400346G>A uc002dlo.2 - 17 2396 c.2208C>T c.(2206-2208)ATC>ATT p.I736I NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 736 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) GTAGCGTCACGATGTGCTGGA 0.617 NaN 0 0 0 1 0 16 17 KIAA0556 23247 broad.mit.edu 37 16 27751476 27751476 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:27751476G>A uc002dow.2 + 15 1882 c.1858G>A c.(1858-1860)GAC>AAC p.D620N NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 620 Potential. ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CATCCTGGTTGACCAGAAGAA 0.527 NaN 0 0 0 1 0 27 66 TUFM 7284 broad.mit.edu 37 16 28857543 28857543 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:28857543G>A uc002drh.2 - 1 187 c.48C>T c.(46-48)TTC>TTT p.F16F uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 13 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 ACTCACCGCTGAAGTGGGGCG 0.687 NaN 0 0 0 1 0 3 6 INO80E 283899 broad.mit.edu 37 16 30012320 30012320 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:30012320C>T uc002dvg.1 + 5 456 c.355C>T c.(355-357)CCC>TCC p.P119S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.P119S|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.P119S NM_173618 NP_775889 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 119 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex skin(1) 1 AACAGGGTTTCCCCTTCAGGC 0.637 NaN 0 0 0 1 0 10 21 DCTPP1 79077 broad.mit.edu 37 16 30440456 30440456 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:30440456C>T uc002dyf.2 - 2 206 c.134G>A c.(133-135)CGA>CAA p.R45Q ZNF771_uc010bzx.2_RNA NM_024096 NP_077001 Q9H773 DCTP1_HUMAN dCTP pyrophosphatase 1 45 EAR. nucleoside triphosphate catabolic process cytosol dCTP diphosphatase activity|identical protein binding|magnesium ion binding 0 TTCCCAGTCTCGTTCCGCAGC 0.483 NaN 0 0 0 1 0 21 53 ADCY7 113 broad.mit.edu 37 16 50335123 50335123 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:50335123C>T uc002egd.1 + 9 1634 c.1366C>T c.(1366-1368)CGG>TGG p.R456W ADCY7_uc002egb.1_Missense_Mutation_p.R456W|ADCY7_uc002egc.1_Missense_Mutation_p.R456W NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 456 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCGACCCCCGGGTACGAGG 0.682 NaN 0 0 0 1 0 4 5 CHD9 80205 broad.mit.edu 37 16 53301296 53301296 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:53301296G>A uc002ehb.2 + 20 4575 c.4411G>A c.(4411-4413)GAA>AAA p.E1471K CHD9_uc002egy.2_Missense_Mutation_p.E1471K|CHD9_uc002ehc.2_Missense_Mutation_p.E1471K|CHD9_uc002ehf.2_Missense_Mutation_p.E585K|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Missense_Mutation_p.E997K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1471 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ATCTGAAGCTGAAAGTGAAGG 0.413 NaN 0 0 0 1 0 27 34 CNOT1 23019 broad.mit.edu 37 16 58621779 58621779 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:58621779G>A uc002env.2 - 4 507 c.214C>T c.(214-216)CAG>TAG p.Q72* CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q72*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q72*|CNOT1_uc002enz.1_5'UTR NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 72 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATCAGAAACTGAGTCTTTAAA 0.353 NaN 0 0 0 1 0 20 35 SLC9A5 6553 broad.mit.edu 37 16 67291253 67291253 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67291253G>C uc002esm.2 + 8 1404 c.1341G>C c.(1339-1341)TTG>TTC p.L447F SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 447 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CATAGGGCTTGACCATCAAGC 0.542 NaN 0 0 0 1 0 16 54 ACD 65057 broad.mit.edu 37 16 67694244 67694244 + Silent SNP A A G rs2303761 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67694244A>G uc002etq.3 - 1 475 c.138T>C c.(136-138)CGT>CGC p.R46R ACD_uc002etp.3_Silent_p.R46R|ACD_uc002etr.3_Silent_p.R46R|ACD_uc010vjt.1_Silent_p.R36R|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 46 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCCCCGCCCACGTACACCCC 0.736 NaN 0 0 0 1 0 6 12 C16orf86 388284 broad.mit.edu 37 16 67702120 67702120 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67702120C>T uc002ety.2 + 4 728 c.571C>T c.(571-573)CGG>TGG p.R191W C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.2_RNA NM_001012984 NP_001013002 Q6ZW13 CP086_HUMAN hypothetical protein LOC388284 191 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCAGCGCCTGCGGCCGCTGTA 0.657 NaN OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 9 10 TERF2 7014 broad.mit.edu 37 16 69419340 69419340 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69419340C>T uc002exd.2 - 2 428 c.303G>A c.(301-303)CTG>CTA p.L101L TERF2_uc002exe.2_Silent_p.L101L NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 101 TRFH dimerization. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) GCATAACCCGCAGCAATCGGG 0.532 NaN 0 0 0 1 0 20 42 CYB5B 80777 broad.mit.edu 37 16 69458758 69458758 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69458758G>A uc002exg.1 + 1 261 c.172G>A c.(172-174)GAG>AAG p.E58K CYB5B_uc002exf.2_Missense_Mutation_p.E58K|CYB5B_uc010cfl.1_Missense_Mutation_p.E58K NM_030579 NP_085056 O43169 CYB5B_HUMAN cytochrome b5 outer mitochondrial membrane 54 Cytochrome b5 heme-binding. electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding 0 Ovarian(137;0.101) CTTCCTCAACGAGGTGGGGCC 0.602 NaN 0 0 0 1 0 15 29 NFAT5 10725 broad.mit.edu 37 16 69687308 69687308 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69687308C>T uc002exm.1 + 4 2136 c.928C>T c.(928-930)CAG>TAG p.Q310* NFAT5_uc002exh.1_Nonsense_Mutation_p.Q104*|NFAT5_uc002exi.2_Nonsense_Mutation_p.Q234*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q328*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q328* NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 310 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AGATAGAACACAGCAAGGCTT 0.398 NaN 0 0 0 1 0 14 37 KIAA0174 9798 broad.mit.edu 37 16 71961660 71961660 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:71961660G>C uc002fbj.1 + 12 1367 c.1084G>C c.(1084-1086)GAC>CAC p.D362H KIAA0174_uc010cgh.1_Missense_Mutation_p.D362H|KIAA0174_uc002fbk.1_Missense_Mutation_p.K347N|KIAA0174_uc002fbm.1_Missense_Mutation_p.D349H|KIAA0174_uc002fbl.1_Missense_Mutation_p.D318H|KIAA0174_uc002fbn.1_Missense_Mutation_p.D201H|KIAA0174_uc010cgi.1_Missense_Mutation_p.D120H|KIAA0174_uc010cgj.1_Missense_Mutation_p.D266H|KIAA0174_uc010vml.1_RNA P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 347 Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 AGCATCTGAAGACATTGACTT 0.458 NaN 0 0 0 1 0 67 125 RFWD3 55159 broad.mit.edu 37 16 74685896 74685896 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:74685896C>T uc002fda.2 - 3 741 c.643G>A c.(643-645)GAT>AAT p.D215N RFWD3_uc010cgq.2_Missense_Mutation_p.D215N NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 215 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 CTGTCAGAATCAGAACTACTA 0.478 NaN 0 0 0 1 0 34 61 CMIP 80790 broad.mit.edu 37 16 81739167 81739167 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:81739167T>C uc002fgp.2 + 19 2227 c.2155T>C c.(2155-2157)TGC>CGC p.C719R CMIP_uc002fgq.1_Missense_Mutation_p.C625R|CMIP_uc010vnq.1_Missense_Mutation_p.C532R|CMIP_uc002fgr.1_Missense_Mutation_p.C566R NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 685 LRR 3. cytoplasm|nucleus 0 GCTGAACCTGTGCGAGACCCC 0.637 NaN 0 0 0 1 0 6 9 CDH15 1013 broad.mit.edu 37 16 89261279 89261279 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:89261279G>A uc002fmt.2 + 14 2238 c.2161G>A c.(2161-2163)GCT>ACT p.A721T NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 721 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGGCTTGGAGGCTGCAGATAG 0.637 NaN 0 0 0 1 0 3 8 KIAA0664 23277 broad.mit.edu 37 17 2604800 2604800 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:2604800C>T uc002fuy.1 - 6 731 c.645G>A c.(643-645)CTG>CTA p.L215L KIAA0664_uc002fux.1_Silent_p.L147L NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 215 binding breast(2) 2 TGAGTACTTTCAGGCACTGCA 0.662 NaN 0 0 0 1 0 10 7 INCA1 388324 broad.mit.edu 37 17 4892128 4892128 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:4892128C>G uc002gaj.2 - 7 959 c.507G>C c.(505-507)GAG>GAC p.E169D CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.E169D|INCA1_uc002gal.2_Missense_Mutation_p.E154D|INCA1_uc002gam.2_Missense_Mutation_p.E154D NM_213726 NP_998891 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 169 nucleus 0 AGGTTGCTCTCTCCTCTTCCA 0.582 NaN 0 0 0 1 0 19 10 DHX33 56919 broad.mit.edu 37 17 5372147 5372147 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:5372147C>T uc002gca.2 - 1 35 c.33G>A c.(31-33)AAG>AAA p.K11K DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.K11K NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 11 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GCCGGAATCTCTTGGCCGGCG 0.721 NaN 0 0 0 1 0 2 0 NLRP1 22861 broad.mit.edu 37 17 5440230 5440230 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:5440230C>A uc002gci.2 - 8 3456 c.2901G>T c.(2899-2901)ATG>ATT p.M967I NLRP1_uc002gcg.1_Missense_Mutation_p.M967I|NLRP1_uc002gck.2_Missense_Mutation_p.M967I|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Missense_Mutation_p.M967I|NLRP1_uc010clh.2_Missense_Mutation_p.M967I NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 967 LRR 6. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GTTCCTGCCTCATCTCATCAC 0.622 NaN 1 0 5.50884e-06 1 5.59432e-06 12 12 USP43 124739 broad.mit.edu 37 17 9580108 9580108 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:9580108C>T uc010cod.2 + 5 879 c.879C>T c.(877-879)TTC>TTT p.F293F USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.F293F|USP43_uc010coe.2_Silent_p.F90F NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 293 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCCAGCGGTTCCTGCGGGTTG 0.557 NaN 0 0 0 1 0 8 4 RICH2 9912 broad.mit.edu 37 17 12860053 12860053 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:12860053C>T uc002gnr.3 + 15 1659 c.1332C>T c.(1330-1332)TTC>TTT p.F444F RICH2_uc010vvk.1_Silent_p.F444F|RICH2_uc010vvl.1_Silent_p.F444F|RICH2_uc002gns.3_Silent_p.F244F|RICH2_uc010vvm.1_Silent_p.F444F|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Silent_p.F167F NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 444 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CAGACTGGTTCTTCCCTGGGG 0.522 NaN 0 0 0 1 0 8 12 FAM83G 644815 broad.mit.edu 37 17 18874745 18874745 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:18874745G>A uc002guw.2 - 6 2566 c.2399C>T c.(2398-2400)ACG>ATG p.T800M SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 800 p.T800T(1) ovary(1)|central_nervous_system(1) 2 GCTACCGCCCGTCCTGGCCTT 0.637 NaN 0 0 0 1 0 42 34 STAC2 342667 broad.mit.edu 37 17 37381683 37381683 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37381683C>T uc002hrs.2 - 1 292 c.73G>A c.(73-75)GCC>ACC p.A25T STAC2_uc010cvt.2_5'UTR NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 25 intracellular signal transduction metal ion binding pancreas(1) 1 TCCTGGAGGGCGGAGACGGTC 0.602 NaN 0 0 0 1 0 11 10 CDK12 51755 broad.mit.edu 37 17 37619354 37619354 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37619354C>T uc010cvv.2 + 1 1616 c.1030C>T c.(1030-1032)CGG>TGG p.R344W CDK12_uc010wef.1_Missense_Mutation_p.R344W|CDK12_uc002hrw.3_Missense_Mutation_p.R344W NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 344 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GTCTCTGAGTCGGAGTCCACT 0.552 NaN TCGA Ovarian(9;0.13) 0 0 0 1 0 18 15 ERBB2 2064 broad.mit.edu 37 17 37864656 37864656 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37864656G>A uc002hso.2 + 3 546 c.308G>A c.(307-309)CGA>CAA p.R103Q ERBB2_uc002hsm.2_Missense_Mutation_p.R73Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R88Q|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.R103Q|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.R73Q|ERBB2_uc002hsn.1_Missense_Mutation_p.R103Q NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 103 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) CGGATTGTGCGAGGCACCCAG 0.612 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 1 0 28 27 PTRF 284119 broad.mit.edu 37 17 40557078 40557078 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:40557078C>T uc002hzo.2 - 2 959 c.800G>A c.(799-801)CGG>CAG p.R267Q PTRF_uc010wgi.1_Missense_Mutation_p.R249Q NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 267 Potential. regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CAGGGTGTGCCGCGTCTTCTC 0.607 NaN 0 0 0 1 0 21 12 HOXB1 3211 broad.mit.edu 37 17 46607197 46607197 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:46607197G>A uc002ink.1 - 2 624 c.618C>T c.(616-618)CTC>CTT p.L206L NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 206 Homeobox. nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGTTGGTGCGGAGGCCACTGG 0.607 NaN 0 0 0 1 0 48 33 SCPEP1 59342 broad.mit.edu 37 17 55083551 55083551 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:55083551G>A uc002iuv.3 + 13 1367 c.1314G>A c.(1312-1314)GGG>GGA p.G438G SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G388G NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 438 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) CTGACCAAGGGGACATGGCTC 0.522 NaN 0 0 0 1 0 25 56 BZRAP1 9256 broad.mit.edu 37 17 56386419 56386419 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:56386419C>T uc002ivx.3 - 22 5085 c.4214G>A c.(4213-4215)CGG>CAG p.R1405Q BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1345Q|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1405Q NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1405 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCTCTCCTCCGGCTGCTTCC 0.642 NaN 0 0 0 1 0 47 58 RAD51C 5889 broad.mit.edu 37 17 56774148 56774148 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:56774148G>A uc002iwu.2 + 3 541 c.499G>A c.(499-501)GAT>AAT p.D167N RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 167 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTATGGTTGATAGAGTGGT 0.413 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 0 0 0 1 0 29 47 GNA13 10672 broad.mit.edu 37 17 63010911 63010911 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:63010911T>C uc002jfc.2 - 4 807 c.598A>G c.(598-600)AGA>GGA p.R200G GNA13_uc010wqh.1_Missense_Mutation_p.R105G NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 200 GTP (By similarity). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 GTGGGTCTTCTGGCAAGCAGA 0.353 NaN 0 0 0 1 0 26 43 BPTF 2186 broad.mit.edu 37 17 65908474 65908474 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:65908474G>A uc002jgf.2 + 11 4535 c.4474G>A c.(4474-4476)GAT>AAT p.D1492N BPTF_uc002jge.2_Missense_Mutation_p.D1618N NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1618 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GAGTTCTTCAGATGCTGAAGG 0.433 NaN 0 0 0 1 0 33 61 GRIN2C 2905 broad.mit.edu 37 17 72846043 72846043 + Silent SNP G G A rs147077649 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:72846043G>A uc002jlt.1 - 7 1677 c.1521C>T c.(1519-1521)ATC>ATT p.I507I GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.I507I NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 507 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGAGGGAGCCGATGGCCATGT 0.607 NaN 0 0 0 1 0 30 50 ICT1 3396 broad.mit.edu 37 17 73016475 73016475 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73016475G>A uc002jmm.2 + 4 353 c.351G>A c.(349-351)CAG>CAA p.Q117Q NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 117 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) CCGTGCGGCAGAAGATAGCCA 0.507 NaN 0 0 0 1 0 20 29 GALK1 2584 broad.mit.edu 37 17 73754661 73754661 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73754661G>C uc010wsi.1 - 6 876 c.813C>G c.(811-813)AGC>AGG p.S271R GALK1_uc002jpk.2_Missense_Mutation_p.S271R NM_000154 NP_000145 P51570 GALK1_HUMAN galactokinase 1 271 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding 0 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCCCTCTTTGCTCACCAGGT 0.701 NaN 0 0 0 1 0 4 8 FBF1 85302 broad.mit.edu 37 17 73923539 73923539 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73923539C>T uc002jqc.2 - 8 704 c.430G>A c.(430-432)GAA>AAA p.E144K FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E134K|FBF1_uc002jqd.1_Missense_Mutation_p.E144K NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 144 0 ATGGTACCTTCAGAGGAAAAC 0.577 NaN 0 0 0 1 0 3 3 SRP68 6730 broad.mit.edu 37 17 74041408 74041408 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74041408C>T uc002jqk.1 - 12 1394 c.1359G>A c.(1357-1359)GAG>GAA p.E453E SRP68_uc010wsu.1_Silent_p.E352E|SRP68_uc002jql.1_Silent_p.E415E|SRP68_uc002jqj.1_Silent_p.E114E NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 453 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 TGAGGCCTATCTCTTTCTGGA 0.463 NaN 0 0 0 1 0 30 46 EXOC7 23265 broad.mit.edu 37 17 74093986 74093986 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74093986G>A uc002jqs.2 - 5 626 c.531C>T c.(529-531)GAC>GAT p.D177D EXOC7_uc010dgv.1_Silent_p.D124D|EXOC7_uc002jqq.2_Silent_p.D177D|EXOC7_uc010wsw.1_Silent_p.D177D|EXOC7_uc010wsx.1_Silent_p.D177D|EXOC7_uc002jqr.2_Silent_p.D177D|EXOC7_uc010wsv.1_Silent_p.D136D|EXOC7_uc002jqu.2_Silent_p.D177D NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 177 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) CCAGATCATCGTCACCACTGA 0.617 NaN 0 0 0 1 0 34 77 RHBDF2 79651 broad.mit.edu 37 17 74474947 74474947 + Missense_Mutation SNP G G A rs138968491 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74474947G>A uc002jrq.1 - 6 993 c.700C>T c.(700-702)CGC>TGC p.R234C RHBDF2_uc002jrp.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrr.1_Missense_Mutation_p.R86C|RHBDF2_uc010wtf.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R229C NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 234 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 CTCTTGCGGCGTGGCAGGTGG 0.687 NaN 0 0 0 1 0 17 28 TMC6 11322 broad.mit.edu 37 17 76115385 76115385 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:76115385G>A uc002juj.1 - 13 1930 c.1804C>T c.(1804-1806)CTG>TTG p.L602L TMC6_uc002jui.1_Silent_p.L181L|TMC6_uc010dhf.1_Silent_p.L435L|TMC6_uc002juk.2_Silent_p.L602L|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.L602L NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 602 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CACCAGGTCAGAGTCTGCCCA 0.622 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 1 0 33 46 TXNDC2 84203 broad.mit.edu 37 18 9888112 9888112 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:9888112G>A uc002koi.3 + 2 2085 c.1636G>A c.(1636-1638)GAA>AAA p.E546K TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.E479K NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 546 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GGAAAAACTTGAAGCAGTCAT 0.378 NaN 0 0 0 1 0 11 21 CEP192 55125 broad.mit.edu 37 18 13057683 13057683 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:13057683G>A uc010xac.1 + 20 4288 c.4208G>A c.(4207-4209)TGG>TAG p.W1403* CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.W928*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.W1144* NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1403 ovary(4)|pancreas(1) 5 ACTGACCGCTGGCTGCAAGTC 0.498 NaN 0 0 0 1 0 14 33 ZNF521 25925 broad.mit.edu 37 18 22805210 22805210 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:22805210C>T uc002kvk.2 - 4 2919 c.2672G>A c.(2671-2673)TGT>TAT p.C891Y ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C891Y|ZNF521_uc002kvl.2_Missense_Mutation_p.C671Y NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 891 C2H2-type 21; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGCTGCCCCACAAATGTCGCA 0.522 NaN T PAX5 ALL 0 0 0 1 0 41 71 DSC1 1823 broad.mit.edu 37 18 28714075 28714075 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:28714075C>T uc002kwn.2 - 13 2157 c.1895G>A c.(1894-1896)CGT>CAT p.R632H DSC1_uc002kwm.2_Missense_Mutation_p.R632H NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 632 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGCCGTTGACGAAGAATGGC 0.348 NaN 0 0 0 1 0 31 30 DSG3 1830 broad.mit.edu 37 18 29054237 29054237 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:29054237C>T uc002kws.2 + 15 2364 c.2255C>T c.(2254-2256)GCC>GTC p.A752V DSG3_uc002kwt.2_Missense_Mutation_p.A34V NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 752 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCGGAGCAGCCACTGGAGTT 0.537 NaN 0 0 0 1 0 41 29 MAPRE2 10982 broad.mit.edu 37 18 32682030 32682030 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:32682030C>T uc002kyg.2 + 4 697 c.517C>T c.(517-519)CGA>TGA p.R173* MAPRE2_uc010xcb.1_Nonsense_Mutation_p.R130*|MAPRE2_uc010xcc.1_Nonsense_Mutation_p.R161*|MAPRE2_uc002kyf.2_Nonsense_Mutation_p.R173*|MAPRE2_uc002kyh.2_Nonsense_Mutation_p.R120*|MAPRE2_uc010xcd.1_Nonsense_Mutation_p.R130* NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 173 cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 TGTAGAGGCACGACAAGGGCA 0.453 NaN 0 0 0 1 0 18 14 KIAA1468 57614 broad.mit.edu 37 18 59888694 59888694 + Silent SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:59888694T>G uc002lil.2 + 5 1037 c.822T>G c.(820-822)CTT>CTG p.L274L KIAA1468_uc002lik.1_Silent_p.L274L|KIAA1468_uc010xel.1_Silent_p.L274L|KIAA1468_uc002lim.2_5'UTR NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 274 LisH. binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) ACTATAAGCTTACATCAATAA 0.294 NaN 0 0 0 1 0 30 17 MED16 10025 broad.mit.edu 37 19 876999 876999 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:876999G>T uc002lqd.1 - 9 1686 c.1535C>A c.(1534-1536)ACG>AAG p.T512K MED16_uc010drw.1_Missense_Mutation_p.T337K|MED16_uc002lqe.2_Missense_Mutation_p.T501K|MED16_uc002lqf.2_Missense_Mutation_p.T501K|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.T357K|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 512 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCTGGCGCGTGTACTCCTC 0.697 NaN 1 0 0.00909568 1 0.00912667 4 3 SLC25A41 284427 broad.mit.edu 37 19 6427193 6427193 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:6427193C>T uc010dus.2 - 6 947 c.861G>A c.(859-861)TCG>TCA p.S287S KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.S149S NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 287 Solcar 3.|Helical; Name=5; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 GCGTCACAGACGACAGACTGA 0.627 NaN 0 0 0 1 0 3 5 ZNF557 79230 broad.mit.edu 37 19 7075710 7075710 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:7075710G>A uc002mgb.2 + 4 540 c.55G>A c.(55-57)GAG>AAG p.E19K ZNF557_uc002mga.2_Missense_Mutation_p.E26K|ZNF557_uc002mgc.2_Missense_Mutation_p.E26K NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) AGGACACACAGAGGGCGGAGA 0.522 NaN 0 0 0 1 0 30 16 CCDC151 115948 broad.mit.edu 37 19 11533473 11533473 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:11533473G>A uc002mrs.2 - 9 1316 c.1173C>T c.(1171-1173)CTC>CTT p.L391L CCDC151_uc002mrr.2_Silent_p.L326L|CCDC151_uc010dxz.2_Silent_p.L331L NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 391 Potential. ovary(1) 1 TCTCGCTCTTGAGCGTCTCCA 0.657 NaN 0 0 0 1 0 11 7 CACNA1A 773 broad.mit.edu 37 19 13411423 13411423 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:13411423C>T uc010dze.2 - 18 2459 c.2223G>A c.(2221-2223)CAG>CAA p.Q741Q CACNA1A_uc010dzc.2_Silent_p.Q266Q|CACNA1A_uc002mwy.3_Silent_p.Q740Q|CACNA1A_uc010xne.1_Silent_p.Q269Q NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 741 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCTTGGCTTTCTGTAGGGCAA 0.522 NaN 0 0 0 1 0 5 66 OR7A5 26659 broad.mit.edu 37 19 14938996 14938996 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:14938996C>T uc002mzw.2 - 1 281 c.58G>A c.(58-60)GAA>AAA p.E20K OR7A5_uc010xoa.1_Missense_Mutation_p.E20K NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 AGTCCAGGTTCTTGTGAAAAT 0.458 NaN 0 0 0 1 0 24 20 RASAL3 64926 broad.mit.edu 37 19 15562865 15562865 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:15562865C>T uc002nbe.2 - 17 2969 c.2883G>A c.(2881-2883)CTG>CTA p.L961L WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 961 Potential. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CCAGGTTTTTCAGACTGTGCC 0.577 NaN 0 0 0 1 0 25 45 CILP2 148113 broad.mit.edu 37 19 19650526 19650526 + Missense_Mutation SNP G G T rs142743091 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:19650526G>T uc002nmv.3 + 2 188 c.103G>T c.(103-105)GGC>TGC p.G35C CILP2_uc002nmw.3_Missense_Mutation_p.G35C NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 35 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GACTGCACTGGGCCTGGAAAG 0.667 NaN 1 0 1.42536e-11 1 1.48066e-11 23 62 ZNF714 148206 broad.mit.edu 37 19 21300833 21300833 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:21300833G>A uc002npo.3 + 6 1726 c.1366G>A c.(1366-1368)GAA>AAA p.E456K ZNF714_uc002npl.2_Missense_Mutation_p.E301K|ZNF714_uc010ecp.1_Missense_Mutation_p.E407K|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 456 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTACAAATGTGAAGAATGTGG 0.368 NaN 0 0 0 1 0 21 43 UPK1A 11045 broad.mit.edu 37 19 36159496 36159496 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36159496C>T uc002oaw.2 + 2 225 c.225C>T c.(223-225)TTC>TTT p.F75F UPK1A_uc010eeh.2_Silent_p.F75F|uc002oax.1_Missense_Mutation_p.M17I NM_007000 NP_008931 O00322 UPK1A_HUMAN uroplakin 1A 75 Helical; (Potential). epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCCTTCTTCATGGTAGCCA 0.597 NaN 0 0 0 1 0 7 13 MLL4 9757 broad.mit.edu 37 19 36214671 36214671 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36214671G>A uc010eei.2 + 9 3097 c.3097G>A c.(3097-3099)GAT>AAT p.D1033N NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1033 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGGGATTCCGATGAATCTCC 0.672 NaN 0 0 0 1 0 5 8 TMEM149 79713 broad.mit.edu 37 19 36231306 36231306 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36231306C>T uc002obc.2 - 3 418 c.317G>A c.(316-318)GGC>GAC p.G106D TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.G106D|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.G186D NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 106 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGGGTTCTGCCCCCGCCCGC 0.706 NaN 0 0 0 1 0 5 20 SUPT5H 6829 broad.mit.edu 37 19 39936594 39936594 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:39936594G>A uc002olo.3 + 2 243 c.64G>A c.(64-66)GAG>AAG p.E22K SUPT5H_uc010xvb.1_Missense_Mutation_p.E22K|SUPT5H_uc002olp.3_Missense_Mutation_p.E22K|SUPT5H_uc002olq.3_Missense_Mutation_p.E22K|SUPT5H_uc002oln.3_Missense_Mutation_p.E22K|SUPT5H_uc002olr.3_Missense_Mutation_p.E22K NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 22 Glu-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGTGACGGCGAGGAGGCCGA 0.657 NaN 0 0 0 1 0 6 16 GSK3A 2931 broad.mit.edu 37 19 42744259 42744259 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:42744259G>A uc002otb.1 - 2 438 c.319C>T c.(319-321)CTA>TTA p.L107L GSK3A_uc002ota.1_Silent_p.L25L|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 107 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) CCTTGGCCTAGAGTGGCTACG 0.587 NaN 0 0 0 1 0 18 40 MEGF8 1954 broad.mit.edu 37 19 42839208 42839208 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:42839208G>A uc002otl.3 + 4 1215 c.580G>A c.(580-582)GAG>AAG p.E194K MEGF8_uc002otm.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 194 Extracellular (Potential).|EGF-like 2. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) ATGCCGCTGTGAGCCTGGCTT 0.478 NaN 0 0 0 1 0 9 16 KLC3 147700 broad.mit.edu 37 19 45852790 45852790 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:45852790G>C uc002pbf.1 + 8 1188 c.1073G>C c.(1072-1074)CGG>CCG p.R358P KLC3_uc010ejy.1_Missense_Mutation_p.R357P|KLC3_uc002pbg.1_Missense_Mutation_p.R372P NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 358 TPR 4. cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CACTATGCCCGGGCCCTGAGC 0.637 NaN 0 0 0 1 0 11 60 ERCC2 2068 broad.mit.edu 37 19 45872219 45872219 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:45872219T>C uc002pbj.2 - 4 262 c.215A>G c.(214-216)TAC>TGC p.Y72C ERCC2_uc010ejz.2_Missense_Mutation_p.Y72C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y48C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y48C|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 72 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TCTTGAGCAGTAGATGAGTTT 0.577 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 28 50 CCDC8 83987 broad.mit.edu 37 19 46914757 46914757 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:46914757C>T uc002pep.2 - 1 2163 c.1311G>A c.(1309-1311)AGG>AGA p.R437R NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 437 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CAGCCTCTGCCCTCTGGCCAG 0.612 NaN 0 0 0 1 0 31 53 SULT2A1 6822 broad.mit.edu 37 19 48374720 48374720 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:48374720A>G uc002phr.2 - 6 990 c.850T>C c.(850-852)TGG>CGG p.W284R NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 284 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CGTTATTCCCATGGGAACAGC 0.433 NaN 0 0 0 1 0 15 34 SPHK2 56848 broad.mit.edu 37 19 49132163 49132163 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:49132163C>T uc002pjr.2 + 7 1464 c.1098C>T c.(1096-1098)CTC>CTT p.L366L SPHK2_uc010xzt.1_Silent_p.L307L|SPHK2_uc002pjs.2_Silent_p.L366L|SPHK2_uc002pjt.2_Silent_p.L160L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.L330L|SPHK2_uc002pjw.2_Silent_p.L428L NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 366 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCTGGGCCTCGCCACACTGC 0.667 NaN 0 0 0 1 0 32 43 RCN3 57333 broad.mit.edu 37 19 50046469 50046469 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50046469G>A uc002poj.2 + 7 1433 c.986G>A c.(985-987)TGA>TAA p.*329* NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 329 endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) GATGAGCTGTGAGCACCGCGC 0.652 NaN 0 0 0 1 0 8 10 RRAS 6237 broad.mit.edu 37 19 50139972 50139972 + Silent SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50139972C>A uc002pop.1 - 4 402 c.357G>T c.(355-357)GTG>GTT p.V119V NM_006270 NP_006261 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 119 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) AGAGCTTGCCCACCTCGTTGA 0.627 NaN 1 0 5.3912e-06 1 5.4938e-06 17 31 TSKS 60385 broad.mit.edu 37 19 50243401 50243401 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50243401C>T uc002ppm.2 - 10 1548 c.1537G>A c.(1537-1539)GAG>AAG p.E513K NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 513 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTCAGGGCCTCTGCCCTGACG 0.647 NaN 0 0 0 1 0 22 65 FUZ 80199 broad.mit.edu 37 19 50315567 50315567 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50315567C>T uc002ppq.1 - 3 364 c.259G>A c.(259-261)GAG>AAG p.E87K FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Missense_Mutation_p.E37K|FUZ_uc010ybd.1_Missense_Mutation_p.E87K NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 87 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) ATGCCCACCTCAGATGACAGA 0.423 NaN 0 0 0 1 0 6 28 SIGLEC5 8778 broad.mit.edu 37 19 52132666 52132666 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:52132666C>T uc002pxe.2 - 3 784 c.645G>A c.(643-645)ATG>ATA p.M215I NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 215 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTGGCGTTTCATCTGACAGG 0.632 NaN 0 0 0 1 0 13 38 ZNF665 79788 broad.mit.edu 37 19 53668818 53668818 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:53668818G>A uc010eqm.1 - 4 1025 c.925C>T c.(925-927)CGA>TGA p.R309* NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 244 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGAATTCTTCGATGACTTGCA 0.428 NaN 0 0 0 1 0 59 136 RRM2 6241 broad.mit.edu 37 2 10269168 10269168 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:10269168G>A uc002rah.2 + 9 1095 c.904G>A c.(904-906)GAG>AAG p.E302K NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 302 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) TGGTTCCTAGGAGTTCCTCAC 0.438 NaN 0 0 0 1 0 37 86 C2orf48 348738 broad.mit.edu 37 2 10350668 10350668 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:10350668C>T uc002rai.1 + 4 714 c.425C>T c.(424-426)ACA>ATA p.T142I NM_182626 NP_872432 Q96LS8 CB048_HUMAN hypothetical protein LOC348738 142 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) CTGGACTCCACACAGGCCTGC 0.567 NaN 0 0 0 1 0 31 61 LAPTM4A 9741 broad.mit.edu 37 2 20237361 20237361 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:20237361G>C uc002rdm.2 - 3 755 c.247C>G c.(247-249)CTT>GTT p.L83V LAPTM4A_uc002rdn.2_Missense_Mutation_p.L41V|LAPTM4A_uc010yjx.1_Missense_Mutation_p.L73V NM_014713 NP_055528 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 83 Helical; (Potential). transport endomembrane system|Golgi apparatus|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGGCAAAAAGAACACAGGCA 0.289 NaN 0 0 0 1 0 13 21 ITSN2 50618 broad.mit.edu 37 2 24521660 24521660 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:24521660T>C uc002rfe.2 - 13 1626 c.1368A>G c.(1366-1368)CGA>CGG p.R456R ITSN2_uc002rff.2_Silent_p.R456R|ITSN2_uc002rfg.2_Silent_p.R456R|ITSN2_uc010eyd.2_Silent_p.R481R NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 456 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCGACGTTGTCGTTCAAGTT 0.338 NaN 0 0 0 1 0 25 64 GPR113 165082 broad.mit.edu 37 2 26533881 26533881 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:26533881G>T uc002rhe.3 - 11 2715 c.2715C>A c.(2713-2715)TAC>TAA p.Y905* GPR113_uc010yky.1_Nonsense_Mutation_p.Y836*|GPR113_uc002rhb.1_Nonsense_Mutation_p.Y508*|GPR113_uc010eyk.1_Nonsense_Mutation_p.Y706*|GPR113_uc002rhc.1_Nonsense_Mutation_p.Y508*|GPR113_uc002rhd.1_RNA NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 1 905 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGAGGTAGGTAGAGCCCCA 0.607 NaN 1 0 1.08611e-07 1 1.11449e-07 12 8 PPP1CB 5500 broad.mit.edu 37 2 29004678 29004678 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:29004678G>C uc002rmg.2 + 5 650 c.490G>C c.(490-492)GTG>CTG p.V164L PPP1CB_uc010ymj.1_Missense_Mutation_p.V136L|PPP1CB_uc010ymk.1_Missense_Mutation_p.V136L|PPP1CB_uc010yml.1_Missense_Mutation_p.V136L|PPP1CB_uc002rmh.2_Missense_Mutation_p.V164L|SPDYA_uc002rmi.2_5'Flank NM_206876 NP_996759 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta 164 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155) AGCAGCCATTGTGGATGAGAA 0.313 NaN 0 0 0 1 0 11 38 FAM179A 165186 broad.mit.edu 37 2 29245089 29245089 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:29245089C>T uc010ezl.2 + 11 1777 c.1426C>T c.(1426-1428)CTT>TTT p.L476F FAM179A_uc010ymm.1_Missense_Mutation_p.L421F|FAM179A_uc002rmr.3_Missense_Mutation_p.L3F NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 476 binding ovary(3)|skin(1) 4 GGAGATGGATCTTAGAGCCTG 0.542 NaN 0 0 0 1 0 29 59 LTBP1 4052 broad.mit.edu 37 2 33589339 33589339 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:33589339G>A uc002ros.2 + 30 4459 c.4459G>A c.(4459-4461)GAG>AAG p.E1487K LTBP1_uc002rot.2_Missense_Mutation_p.E1161K|LTBP1_uc002rou.2_Missense_Mutation_p.E1160K|LTBP1_uc002rov.2_Missense_Mutation_p.E1107K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1118K|LTBP1_uc010yna.1_Missense_Mutation_p.E1065K|LTBP1_uc010ynb.1_Missense_Mutation_p.E384K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1486 EGF-like 16; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTTAATACAGAGGGCTCTTA 0.423 NaN 0 0 0 1 0 24 37 TTC7A 57217 broad.mit.edu 37 2 47177528 47177528 + Missense_Mutation SNP G G A rs147914967 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:47177528G>A uc002rvo.2 + 2 579 c.211G>A c.(211-213)GAG>AAG p.E71K TTC7A_uc002rvm.2_Missense_Mutation_p.E37K|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc010fbb.2_Missense_Mutation_p.E71K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 71 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCTGCTGGCTGAGGCCCTCCT 0.502 NaN 0 0 0 1 0 64 96 ASB3 51130 broad.mit.edu 37 2 53992675 53992675 + Missense_Mutation SNP G G C rs146004165 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:53992675G>C uc002rxg.1 - 2 170 c.35C>G c.(34-36)TCT>TGT p.S12C ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.S50C|ASB3_uc010yoo.1_Missense_Mutation_p.S12C|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 12 ANK 1. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCAACTGTAGAGCACGTGTC 0.428 NaN 0 0 0 1 0 37 76 PNPT1 87178 broad.mit.edu 37 2 55882034 55882034 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:55882034C>T uc002rzf.2 - 18 1548 c.1495_splice c.e18+1 p.G499_splice PNPT1_uc002rzg.2_Splice_Site NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AATTCTTTTACCTGAATCCAT 0.204 NaN 0 0 0 1 0 20 51 USP34 9736 broad.mit.edu 37 2 61431458 61431458 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:61431458C>T uc002sbe.2 - 74 9339 c.9317G>A c.(9316-9318)AGC>AAC p.S3106N USP34_uc002sbd.2_Intron NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3106 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCGAATATTGCTTTTCCCTCC 0.408 NaN 0 0 0 1 0 25 42 PLEK 5341 broad.mit.edu 37 2 68592492 68592492 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:68592492A>G uc002sen.3 + 1 171 c.9A>G c.(7-9)CCA>CCG p.P3P PLEK_uc010fde.2_Silent_p.P3P NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 3 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCATGGAACCAAAGCGGATCA 0.597 NaN 0 0 0 1 0 32 47 ATP6V1B1 525 broad.mit.edu 37 2 71192177 71192177 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:71192177C>T uc002shj.2 + 14 1555 c.1468C>T c.(1468-1470)CCG>TCG p.P490S ATP6V1B1_uc010fdv.2_Missense_Mutation_p.P473S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.P448S NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 490 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GAAGCGCATTCCGCAGGCCGT 0.662 NaN OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 26 37 TTC31 64427 broad.mit.edu 37 2 74718624 74718624 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:74718624C>T uc002slt.2 + 8 724 c.701C>T c.(700-702)TCT>TTT p.S234F TTC31_uc002sls.2_Missense_Mutation_p.S163F|TTC31_uc010yrv.1_Missense_Mutation_p.S90F|TTC31_uc002slu.2_Missense_Mutation_p.S90F NM_022492 NP_071937 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 234 binding 0 CTGGATCTATCTAGCACTTTT 0.542 NaN 0 0 0 1 0 88 183 IMMT 10989 broad.mit.edu 37 2 86374830 86374830 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:86374830C>T uc002sqz.3 - 13 1916 c.1528G>A c.(1528-1530)GAG>AAG p.E510K IMMT_uc002sqy.3_Missense_Mutation_p.E251K|IMMT_uc002srb.3_Missense_Mutation_p.E499K|IMMT_uc002sra.3_Missense_Mutation_p.E509K|IMMT_uc010ytd.1_Missense_Mutation_p.E498K|IMMT_uc010yte.1_Missense_Mutation_p.E463K|IMMT_uc002src.1_Missense_Mutation_p.E246K NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 510 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 CTCACCTGCTCAAATTCAGAC 0.483 NaN 0 0 0 1 0 21 29 REEP1 65055 broad.mit.edu 37 2 86459890 86459890 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:86459890G>A uc002srh.3 - 6 597 c.453C>T c.(451-453)TTC>TTT p.F151F REEP1_uc010ytg.1_Silent_p.F130F|REEP1_uc010yth.1_Silent_p.F124F|REEP1_uc010yti.1_Missense_Mutation_p.S73L NM_022912 NP_075063 Q9H902 REEP1_HUMAN receptor accessory protein 1 isoform 2 151 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding 0 CCTGCATGCTGAAGCTCCGCA 0.667 NaN 0 0 0 1 0 13 18 EIF2AK3 9451 broad.mit.edu 37 2 88890382 88890382 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:88890382A>G uc002stc.3 - 5 1158 c.956T>C c.(955-957)GTT>GCT p.V319A NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 319 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GAATGCCATAACTTTCCAGTC 0.428 NaN 0 0 0 1 0 33 67 SNRNP200 23020 broad.mit.edu 37 2 96943981 96943981 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:96943981C>G uc002svu.2 - 39 5690 c.5604G>C c.(5602-5604)CTG>CTC p.L1868L SNRNP200_uc002svt.2_Silent_p.L478L|SNRNP200_uc010yuj.1_RNA NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1868 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TCACCTGCCTCAGGAGATTGT 0.552 NaN 0 0 0 1 0 29 57 ANKRD36 375248 broad.mit.edu 37 2 97779539 97779539 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:97779539C>T uc010yva.1 + 1 307 c.63C>T c.(61-63)TTC>TTT p.F21F ANKRD36_uc002sxn.2_Silent_p.F21F|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Silent_p.F21F|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 21 0 CGGATGGCTTCGCATTTCCCC 0.512 NaN 0 0 0 1 0 21 61 MRPL30 51263 broad.mit.edu 37 2 99804704 99804704 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:99804704C>T uc002szu.2 + 3 278 c.116C>T c.(115-117)TCA>TTA p.S39L MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.S39L|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.S39L NM_145213 NP_660214 Q8TCC3 RM30_HUMAN RecName: Full=39S ribosomal protein L30, mitochondrial; Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor; 39 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 TTCACCAGATCAAGAATTCCA 0.279 NaN 0 0 0 1 0 4 8 REV1 51455 broad.mit.edu 37 2 100019151 100019151 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:100019151T>C uc002tad.2 - 21 3709 c.3497A>G c.(3496-3498)AAT>AGT p.N1166S REV1_uc002tac.2_Missense_Mutation_p.N1165S NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1166 Protein interaction domain; mediates interaction with DNA polymerase zeta. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CTTCACATCATTGAATTCAAC 0.488 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 28 47 SLC9A4 389015 broad.mit.edu 37 2 103142766 103142766 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:103142766C>T uc002tbz.3 + 11 2456 c.1999C>T c.(1999-2001)CAG>TAG p.Q667* NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 667 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CGGGAATCCTCAGTCTGCAGG 0.443 NaN 0 0 0 1 0 24 44 RANBP2 5903 broad.mit.edu 37 2 109369565 109369565 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:109369565C>T uc002tem.3 + 13 1993 c.1867C>T c.(1867-1869)CCT>TCT p.P623S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 623 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GAACAGTATTCCTGAACCTAT 0.308 NaN 0 0 0 1 0 32 74 DPP10 57628 broad.mit.edu 37 2 116594297 116594297 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:116594297A>G uc002tla.1 + 24 2614 c.2157A>G c.(2155-2157)ATA>ATG p.I719M DPP10_uc002tlb.1_Missense_Mutation_p.I669M|DPP10_uc002tlc.1_Missense_Mutation_p.I715M|DPP10_uc002tle.2_Missense_Mutation_p.I723M|DPP10_uc002tlf.1_Missense_Mutation_p.I712M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 719 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AAGAAAATATATTAATAATTC 0.333 NaN 0 0 0 1 0 44 62 TMEM177 80775 broad.mit.edu 37 2 120438762 120438762 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:120438762G>A uc010flg.1 + 2 806 c.333G>A c.(331-333)TTG>TTA p.L111L TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.L111L|TMEM177_uc002tmd.2_Silent_p.L111L|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 111 integral to membrane ovary(1) 1 Colorectal(110;0.196) CCAGTTTCTTGGGAGACCTAG 0.587 NaN 0 0 0 1 0 86 167 PTPN4 5775 broad.mit.edu 37 2 120725491 120725491 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:120725491T>C uc002tmf.1 + 26 3408 c.2637T>C c.(2635-2637)TAT>TAC p.Y879Y PTPN4_uc010flj.1_Silent_p.Y592Y|PTPN4_uc010yyr.1_Silent_p.Y512Y NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 879 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) AGCCAGTTTATCCACTAGATA 0.373 NaN 0 0 0 1 0 32 78 ERCC3 2071 broad.mit.edu 37 2 128046431 128046431 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:128046431C>T uc002toh.1 - 7 927 c.832G>A c.(832-834)GAG>AAG p.E278K ERCC3_uc002toe.1_Missense_Mutation_p.E33K|ERCC3_uc002tof.1_Missense_Mutation_p.E214K|ERCC3_uc002tog.1_Missense_Mutation_p.E214K|ERCC3_uc010flx.1_Missense_Mutation_p.E33K NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 278 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGGAGTTCCTCAATCATTTCC 0.413 NaN Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 70 117 BAZ2B 29994 broad.mit.edu 37 2 160206422 160206422 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:160206422C>T uc002uao.2 - 28 5012 c.4660G>A c.(4660-4662)GAA>AAA p.E1554K BAZ2B_uc002uap.2_Missense_Mutation_p.E1518K NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTATTCTTTTCAGTCAGCGTT 0.428 NaN 0 0 0 1 0 61 115 TBR1 10716 broad.mit.edu 37 2 162273101 162273101 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:162273101G>A uc002ubw.1 + 1 482 c.180G>A c.(178-180)ACG>ACA p.T60T TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 60 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GGGGGATGACGAATCAGTCAG 0.498 NaN 0 0 0 1 0 31 60 COBLL1 22837 broad.mit.edu 37 2 165551902 165551902 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:165551902G>A uc010zcw.1 - 15 2439 c.2315C>T c.(2314-2316)TCA>TTA p.S772L COBLL1_uc002ucp.2_Missense_Mutation_p.S705L|COBLL1_uc002ucq.2_Missense_Mutation_p.S667L|COBLL1_uc010zcx.1_Missense_Mutation_p.S713L|COBLL1_uc002ucn.2_Missense_Mutation_p.S133L|COBLL1_uc002uco.2_Missense_Mutation_p.S436L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 743 ovary(2)|pancreas(1) 3 CGGATCTTCTGAATGTATAAT 0.373 NaN 0 0 0 1 0 58 104 TTN 7273 broad.mit.edu 37 2 179398127 179398127 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179398127G>A uc010zfg.1 - 307 95735 c.95511C>T c.(95509-95511)CTC>CTT p.L31837L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L25532L|TTN_uc010zfi.1_Silent_p.L25465L|TTN_uc010zfj.1_Silent_p.L25340L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32764 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTAGGCCCGAGGGACAGTG 0.473 NaN 0 0 0 1 0 27 51 TTN 7273 broad.mit.edu 37 2 179422195 179422195 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179422195C>G uc010zfg.1 - 278 80314 c.80090G>C c.(80089-80091)GGA>GCA p.G26697A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G20392A|TTN_uc010zfi.1_Missense_Mutation_p.G20325A|TTN_uc010zfj.1_Missense_Mutation_p.G20200A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27624 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCACTGCCTCCATTTGACAC 0.458 NaN 0 0 0 1 0 24 66 TTN 7273 broad.mit.edu 37 2 179429435 179429435 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179429435C>G uc010zfg.1 - 275 73944 c.73720G>C c.(73720-73722)GAG>CAG p.E24574Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18269Q|TTN_uc010zfi.1_Missense_Mutation_p.E18202Q|TTN_uc010zfj.1_Missense_Mutation_p.E18077Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25501 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTCATACTCAAGGCCCTCA 0.418 NaN 0 0 0 1 0 19 30 ITGAV 3685 broad.mit.edu 37 2 187466860 187466860 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:187466860A>T uc002upq.2 + 2 574 c.298A>T c.(298-300)ATT>TTT p.I100F ITGAV_uc010frs.2_Missense_Mutation_p.I100F|ITGAV_uc010zfv.1_Missense_Mutation_p.I54F NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 100 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GTGCCAGCCAATTGAATTTGA 0.423 NaN 0 0 0 1 0 17 29 TMEFF2 23671 broad.mit.edu 37 2 192863864 192863864 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:192863864C>T uc002utc.2 - 6 1001 c.607G>A c.(607-609)GAT>AAT p.D203N NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 203 Kazal-like 2.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CATGCATTATCATAAGATTTC 0.363 NaN 0 0 0 1 0 29 52 ALS2 57679 broad.mit.edu 37 2 202631985 202631985 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:202631985G>A uc002uyo.2 - 3 498 c.142C>T c.(142-144)CTC>TTC p.L48F ALS2_uc002uyp.3_Missense_Mutation_p.L48F|ALS2_uc002uyq.2_Missense_Mutation_p.L48F|ALS2_uc002uyr.2_Missense_Mutation_p.L48F NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 48 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TTCACTCCGAGGGCTGCCTGC 0.488 NaN 0 0 0 1 0 14 31 MAP2 4133 broad.mit.edu 37 2 210558419 210558419 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:210558419G>C uc002vde.1 + 7 1773 c.1525G>C c.(1525-1527)GAT>CAT p.D509H MAP2_uc002vdc.1_Missense_Mutation_p.D509H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D505H NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 509 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCAGTTACAGATTCAGCCAT 0.428 NaN 0 0 0 1 0 25 26 SIRPB2 284759 broad.mit.edu 37 20 1458977 1458977 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:1458977C>T uc002wfg.2 - 3 955 c.727G>A c.(727-729)GTA>ATA p.V243I SIRPB2_uc002wfh.3_Missense_Mutation_p.V145I|SIRPB2_uc010zpr.1_Missense_Mutation_p.V105I NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 243 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 TGAAACTTTACACAGTAATAG 0.512 NaN 0 0 0 1 0 24 48 STK35 140901 broad.mit.edu 37 20 2083843 2083843 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:2083843G>A uc010gak.2 + 2 724 c.724G>A c.(724-726)GAG>AAG p.E242K STK35_uc010zpu.1_Missense_Mutation_p.E109K|STK35_uc002wfw.3_Missense_Mutation_p.E109K NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 242 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CGAGAACGTGGAGCTGGCGCT 0.682 NaN 0 0 0 1 0 5 11 HSPA12B 116835 broad.mit.edu 37 20 3732653 3732653 + Missense_Mutation SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:3732653T>A uc002wjd.2 + 13 2004 c.1901T>A c.(1900-1902)CTT>CAT p.L634H HSPA12B_uc010zqi.1_Missense_Mutation_p.L633H|HSPA12B_uc002wje.2_Missense_Mutation_p.L547H|HSPA12B_uc010zqj.1_Missense_Mutation_p.L468H NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 634 ATP binding 0 AGCCTCGAGCTTGAGCCCGCC 0.697 NaN 0 0 0 1 0 5 7 RASSF2 9770 broad.mit.edu 37 20 4768393 4768393 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:4768393C>T uc002wld.2 - 9 753 c.699G>A c.(697-699)CAG>CAA p.Q233Q RASSF2_uc002wlc.2_Intron|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.Q233Q|RASSF2_uc010gbh.2_5'Flank NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 233 Ras-associating. cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 CCTTCAGCTTCTGTTTCTCTG 0.542 NaN 0 0 0 1 0 16 21 PLCB1 23236 broad.mit.edu 37 20 8722214 8722214 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:8722214G>C uc002wnb.2 + 23 2520 c.2517G>C c.(2515-2517)AAG>AAC p.K839N PLCB1_uc010zrb.1_Missense_Mutation_p.K738N|PLCB1_uc002wna.2_Missense_Mutation_p.K839N|PLCB1_uc002wnc.1_Missense_Mutation_p.K738N|PLCB1_uc002wnd.1_Missense_Mutation_p.K416N NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 839 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAGAAGTAAAGAAAGAGGTGA 0.398 NaN 0 0 0 1 0 5 20 C20orf3 57136 broad.mit.edu 37 20 24973288 24973288 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:24973288G>C uc002wty.2 - 1 138 c.37C>G c.(37-39)CTG>GTG p.L13V C20orf3_uc002wtz.2_Missense_Mutation_p.L13V|C20orf3_uc010zsw.1_Missense_Mutation_p.L13V NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 13 Cytoplasmic (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 TGCGGCCGCAGGGGCCGGCGC 0.716 NaN 0 0 0 1 0 4 1 ACSS1 84532 broad.mit.edu 37 20 25038496 25038496 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:25038496G>A uc002wub.2 - 1 1121 c.243C>T c.(241-243)CTC>CTT p.L81L ACSS1_uc002wuc.2_Silent_p.L81L|ACSS1_uc010gdc.2_Silent_p.L81L NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 81 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTCCCACACGAGAGTGTCCC 0.657 NaN 0 0 0 1 0 18 31 C20orf134 170487 broad.mit.edu 37 20 32255571 32255571 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:32255571G>A uc002wzt.2 + 1 1268 c.268G>A c.(268-270)GAC>AAC p.D90N NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron NM_001024675 NP_001019846 Q5JWF8 CT134_HUMAN hypothetical protein LOC170487 90 pancreas(1) 1 CGTGTCCCTGGACTTCGAGGG 0.672 NaN 0 0 0 1 0 14 18 MYH7B 57644 broad.mit.edu 37 20 33574708 33574708 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:33574708G>A uc002xbi.1 + 13 1142 c.1050G>A c.(1048-1050)ATG>ATA p.M350I NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 308 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TTCTGTCTATGAACCCCTATG 0.567 NaN 0 0 0 1 0 26 33 SPAG4 6676 broad.mit.edu 37 20 34204137 34204137 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:34204137C>T uc002xdb.1 + 1 329 c.212C>T c.(211-213)ACA>ATA p.T71I SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 71 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGAGGAACCACATGGGCAGGA 0.741 NaN 0 0 0 1 0 7 10 CTNNBL1 56259 broad.mit.edu 37 20 36322537 36322537 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:36322537G>A uc010zvw.1 + 1 104 c.13G>A c.(13-15)GAA>AAA p.E5K CTNNBL1_uc010zvv.1_5'UTR NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 5 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) GGACGTGGGCGAACTTCTGAG 0.662 NaN 0 0 0 1 0 3 6 CHD6 84181 broad.mit.edu 37 20 40049589 40049589 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:40049589G>T uc002xka.1 - 31 5864 c.5686C>A c.(5686-5688)CCC>ACC p.P1896T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1896 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTAGTAGTGGGCTCCGTGAGA 0.418 NaN 1 0 3.3946e-10 1 3.50775e-10 39 42 YWHAB 7529 broad.mit.edu 37 20 43530229 43530229 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:43530229G>A uc002xmt.2 + 3 337 c.55G>A c.(55-57)GAG>AAG p.E19K YWHAB_uc002xmu.2_Missense_Mutation_p.E19K NM_003404 NP_003395 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 19 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) TGAGCAGGCTGAGCGATATGA 0.458 NaN 0 0 0 1 0 23 24 PCIF1 63935 broad.mit.edu 37 20 44573628 44573628 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:44573628G>A uc002xqs.2 + 11 1441 c.1127G>A c.(1126-1128)CGA>CAA p.R376Q PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 376 nucleus skin(1) 1 AAACGGATCCGAGAGAAGCAC 0.562 NaN 0 0 0 1 0 13 4 GCFC1 94104 broad.mit.edu 37 21 34120941 34120941 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:34120941T>C uc002yqn.2 - 11 1982 c.1792A>G c.(1792-1794)ATT>GTT p.I598V GCFC1_uc002yql.2_Missense_Mutation_p.I107V|GCFC1_uc002yqm.2_Missense_Mutation_p.I92V|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.I598V NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 598 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TGTGATTTAATACAGTCAATT 0.358 NaN 0 0 0 1 0 50 16 CRYZL1 9946 broad.mit.edu 37 21 34962153 34962153 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:34962153C>G uc011adw.1 - 13 1205 c.1025G>C c.(1024-1026)AGA>ACA p.R342T DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 342 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 TTGCTTTTTTCTTCCTTGATT 0.353 NaN 0 0 0 1 0 24 12 RSPH1 89765 broad.mit.edu 37 21 43913146 43913146 + Missense_Mutation SNP C C T rs145742147 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:43913146C>T uc002zbg.2 - 2 203 c.98G>A c.(97-99)CGT>CAT p.R33H SLC37A1_uc002zbh.1_5'Flank NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 33 MORN 1. meiosis cytosol|nucleus ovary(1) 1 TGCCCTCCCACGTCCGTGCCT 0.448 NaN 0 0 0 1 0 137 58 PCNT 5116 broad.mit.edu 37 21 47821561 47821562 + Missense_Mutation DNP TC TC GA rs147564798 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:47821561_47821562TC>GA uc002zji.3 + 26 4995_4996 c.4888_4889TC>GA c.(4888-4890)TCG>GAG p.S1630E PCNT_uc002zjj.2_Missense_Mutation_p.S1512E NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1630 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CGAGCCTCCTTCGGGCAGCCCT 0.554 NaN 0 0 0 1 0 55 50 SERPIND1 3053 broad.mit.edu 37 22 21134339 21134339 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:21134339G>A uc002ztb.1 + 2 806 c.739G>A c.(739-741)GAG>AAG p.E247K PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E275K NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 247 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TTACTTTGCTGAGGCCCAGAT 0.433 NaN 0 0 0 1 0 66 197 SERPIND1 3053 broad.mit.edu 37 22 21134464 21134464 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:21134464G>A uc002ztb.1 + 2 931 c.864G>A c.(862-864)ATG>ATA p.M288I PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.M316I NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 288 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CCCAGATGATGATTCTCAACT 0.423 NaN 0 0 0 1 0 70 217 MN1 4330 broad.mit.edu 37 22 28193195 28193195 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:28193195A>C uc003adj.2 - 1 4292 c.3337T>G c.(3337-3339)TCG>GCG p.S1113A NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1113 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 TCAGGGGTCGAGGTAGAGTTA 0.756 NaN T ETV6 AML|meningioma 0 0 0 1 0 6 16 KDELR3 11015 broad.mit.edu 37 22 38875600 38875600 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:38875600G>A uc003avv.2 + 3 351 c.195G>A c.(193-195)GTG>GTA p.V65V KDELR3_uc003avu.2_Silent_p.V65V NM_006855 NP_006846 O43731 ERD23_HUMAN KDEL receptor 3 isoform a 65 Helical; (Potential). protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity ovary(2) 2 Melanoma(58;0.0286) CCTTTTAGGTGGTTTTTCTCC 0.438 NaN 0 0 0 1 0 59 47 SREBF2 6721 broad.mit.edu 37 22 42271711 42271711 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:42271711C>G uc003bbi.2 + 7 1538 c.1369C>G c.(1369-1371)CTA>GTA p.L457V WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 457 Interaction with LMNA (By similarity).|Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 AGGAAGCCCTCTATTGGATGA 0.502 NaN 0 0 0 1 0 36 34 SEPT3 55964 broad.mit.edu 37 22 42392933 42392933 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:42392933C>T uc003bbr.3 + 11 1177 c.1039C>T c.(1039-1041)CCA>TCA p.P347S WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_3'UTR|SEPT3_uc010gyr.2_Missense_Mutation_p.P283S|SEPT3_uc011apj.1_3'UTR|SEPT3_uc010gys.2_Missense_Mutation_p.P127S|WBP2NL_uc003bbt.2_5'Flank|WBP2NL_uc011apk.1_5'Flank|WBP2NL_uc003bbu.2_5'Flank NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 347 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 CACTGTCCTTCCACCTGTGCC 0.577 NaN 0 0 0 1 0 46 30 KCNH8 131096 broad.mit.edu 37 3 19575010 19575010 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:19575010G>T uc003cbk.1 + 16 2938 c.2743G>T c.(2743-2745)GTG>TTG p.V915L KCNH8_uc010hex.1_Missense_Mutation_p.V376L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 915 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CAGCACCTCTGTGTGTCCCTC 0.522 NaN 1 0 2.47907e-22 1 2.61679e-22 57 22 NEK10 152110 broad.mit.edu 37 3 27346359 27346359 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:27346359C>T uc003cdt.1 - 13 1181 c.907G>A c.(907-909)GAC>AAC p.D303N NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 303 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TTCAAGTGGTCAGAGTGGAGC 0.542 NaN 0 0 0 1 0 19 18 GLB1 2720 broad.mit.edu 37 3 33110348 33110348 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:33110348C>T uc003cfi.1 - 3 477 c.360G>A c.(358-360)CTG>CTA p.L120L GLB1_uc003cfh.1_Silent_p.L90L|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.L168L NM_000404 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 isoform a preproprotein 120 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding large_intestine(1) 1 Melanoma(143;0.104) GCCCGGGCCTCAGGATAACCA 0.562 NaN 0 0 0 1 0 45 27 XIRP1 165904 broad.mit.edu 37 3 39228107 39228107 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:39228107G>A uc003cjk.1 - 2 3051 c.2830C>T c.(2830-2832)CTG>TTG p.L944L XIRP1_uc003cji.2_Silent_p.L944L|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 944 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCCACCGCAGACTGTGCAGG 0.637 NaN 0 0 0 1 0 39 14 GPR62 118442 broad.mit.edu 37 3 51990695 51990695 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:51990695G>A uc003dca.3 + 1 1366 c.1027G>A c.(1027-1029)GAG>AAG p.E343K NM_080865 NP_543141 Q9BZJ7 GPR62_HUMAN G protein-coupled receptor 62 343 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGCCCTTCTGAGGCTCCAGA 0.672 NaN 0 0 0 1 0 22 10 ALAS1 211 broad.mit.edu 37 3 52246323 52246323 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:52246323G>A uc003dcy.1 + 11 1986 c.1649G>A c.(1648-1650)AGA>AAA p.R550K ALAS1_uc003dcz.1_Missense_Mutation_p.R550K|ALAS1_uc011bec.1_Missense_Mutation_p.R567K NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 550 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTAATGAGCAGACATAACATC 0.498 NaN 0 0 0 1 0 197 72 ROBO2 6092 broad.mit.edu 37 3 77657032 77657032 + Silent SNP C C T rs143136849 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:77657032C>T uc003dpy.3 + 21 3863 c.3220C>T c.(3220-3222)CTA>TTA p.L1074L ROBO2_uc003dpz.2_Silent_p.L1078L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L1078L|ROBO2_uc003dqa.2_Silent_p.L201L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1074 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.L1074L(1)|p.L1090L(1) lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAATGTCCCTCTACCTCCCCC 0.423 NaN 0 0 0 1 0 10 34 GABRR3 200959 broad.mit.edu 37 3 97726706 97726706 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:97726706C>T uc011bgr.1 - 6 656 c.656G>A c.(655-657)GGA>GAA p.G219E NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 219 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 GGACTTGTTTCCGTGTTTCCA 0.343 NaN 0 0 0 1 0 6 13 BBX 56987 broad.mit.edu 37 3 107474514 107474514 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:107474514C>T uc010hpr.2 + 10 1222 c.895C>T c.(895-897)CAA>TAA p.Q299* BBX_uc003dwk.3_Nonsense_Mutation_p.Q299*|BBX_uc003dwl.3_Nonsense_Mutation_p.Q299*|BBX_uc010hps.1_Nonsense_Mutation_p.Q320*|BBX_uc003dwm.3_Nonsense_Mutation_p.Q299* NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGCACTCTTTCAACTGGCAGA 0.368 NaN 0 0 0 1 0 25 59 GPR156 165829 broad.mit.edu 37 3 119905579 119905579 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:119905579C>T uc011bjf.1 - 5 526 c.526G>A c.(526-528)GAT>AAT p.D176N GPR156_uc011bjg.1_Missense_Mutation_p.D176N NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 176 Helical; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) AGGATCACATCAGCCATCAAC 0.502 NaN 0 0 0 1 0 32 66 STXBP5L 9515 broad.mit.edu 37 3 121126442 121126442 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:121126442G>A uc003eec.3 + 24 3152 c.3012G>A c.(3010-3012)ATG>ATA p.M1004I STXBP5L_uc011bji.1_Missense_Mutation_p.M980I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1004 WD 13. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GACATATCATGATAATGAGGT 0.373 NaN 0 0 0 1 0 32 35 POLQ 10721 broad.mit.edu 37 3 121251880 121251880 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:121251880G>T uc003eee.3 - 6 1046 c.917C>A c.(916-918)TCA>TAA p.S306* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 306 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAGTTTCATTGAAGAGTCATA 0.383 NaN DNA_polymerases_(catalytic_subunits) 1 0 5.50884e-06 1 5.59432e-06 13 30 OSBPL11 114885 broad.mit.edu 37 3 125313607 125313607 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:125313607G>A uc003eic.2 - 1 775 c.38C>T c.(37-39)TCG>TTG p.S13L NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 13 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 TTCGCTCTCCGAGACTTTCAT 0.408 NaN 0 0 0 1 0 15 23 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 1 0 12 8 ATP2C1 27032 broad.mit.edu 37 3 130694262 130694262 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:130694262G>A uc003enl.2 + 18 1722 c.1500G>A c.(1498-1500)TTG>TTA p.L500L ATP2C1_uc011blg.1_Silent_p.L534L|ATP2C1_uc011blh.1_Silent_p.L495L|ATP2C1_uc011bli.1_Silent_p.L534L|ATP2C1_uc003enk.2_Silent_p.L484L|ATP2C1_uc003enm.2_Silent_p.L500L|ATP2C1_uc003enn.2_Silent_p.L484L|ATP2C1_uc003eno.2_Silent_p.L500L|ATP2C1_uc003enp.2_Silent_p.L500L|ATP2C1_uc003enq.2_Silent_p.L500L|ATP2C1_uc003enr.2_Silent_p.L500L|ATP2C1_uc003ens.2_Silent_p.L500L|ATP2C1_uc003ent.2_Silent_p.L500L|ATP2C1_uc003enu.2_Silent_p.L178L NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 500 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GGCAGACCTTGACACTTACTC 0.463 NaN Hailey-Hailey_disease 0 0 0 1 0 25 33 STAG1 10274 broad.mit.edu 37 3 136076567 136076567 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:136076567C>G uc003era.1 - 28 3352 c.3060G>C c.(3058-3060)AAG>AAC p.K1020N STAG1_uc003erb.1_Missense_Mutation_p.K1020N NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 1020 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 CTTACACTGTCTTTTTGTCCT 0.294 NaN 0 0 0 1 0 18 34 MRPS22 56945 broad.mit.edu 37 3 139071544 139071544 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:139071544G>A uc003etb.2 + 6 796 c.788G>A c.(787-789)CGT>CAT p.R263H MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R262H|MRPS22_uc003ete.2_Missense_Mutation_p.R222H NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 263 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GACCTTTTACGTTCAACAAGA 0.323 NaN 0 0 0 1 0 21 41 MFSD1 64747 broad.mit.edu 37 3 158519993 158519993 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:158519993G>A uc003fcl.1 + 1 82 c.52G>A c.(52-54)GAG>AAG p.E18K MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.E18K|MFSD1_uc011box.1_5'UTR NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 18 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CGGCCCTGACGAGGCCGACAG 0.682 NaN 0 0 0 1 0 4 12 KPNA4 3840 broad.mit.edu 37 3 160219955 160219955 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:160219955A>C uc003fdn.2 - 17 1809 c.1503T>G c.(1501-1503)ATT>ATG p.I501M NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 501 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTCCGCCTTGAATTGCCTCTG 0.348 NaN 0 0 0 1 0 34 45 MYNN 55892 broad.mit.edu 37 3 169496653 169496653 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:169496653G>A uc003fft.2 + 3 793 c.364G>A c.(364-366)GCT>ACT p.A122T MYNN_uc011bpm.1_Missense_Mutation_p.A8T|MYNN_uc003ffu.2_Missense_Mutation_p.A122T|MYNN_uc003ffv.2_Intron|MYNN_uc010hwo.2_Missense_Mutation_p.A122T|MYNN_uc003ffw.1_5'Flank NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 122 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TGCTTTTATTGCTAATCCTTC 0.343 NaN 0 0 0 1 0 24 56 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) 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) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 1 0 20 15 MCCC1 56922 broad.mit.edu 37 3 182804570 182804570 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:182804570C>T uc003fle.2 - 4 417 c.280G>A c.(280-282)GAA>AAA p.E94K MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Missense_Mutation_p.M17I|MCCC1_uc003flg.2_5'UTR|MCCC1_uc011bqp.1_Missense_Mutation_p.E47K|MCCC1_uc011bqq.1_5'UTR NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 94 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GAATATGCTTCATCTGCCTGT 0.438 NaN 0 0 0 1 0 6 5 C3orf59 151963 broad.mit.edu 37 3 192516517 192516517 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:192516517G>A uc011bsp.1 - 2 1455 c.1134C>T c.(1132-1134)TTC>TTT p.F378F NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 378 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) ACTGAGGGATGAAATAATTGG 0.532 NaN 0 0 0 1 0 19 46 RNF168 165918 broad.mit.edu 37 3 196198864 196198864 + Silent SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:196198864T>A uc003fwq.2 - 6 2080 c.1542A>T c.(1540-1542)TCA>TCT p.S514S RNF168_uc010iah.2_Silent_p.S347S|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 514 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTTTGTCCCTTGAGCCTCTCT 0.423 NaN 0 0 0 1 0 87 191 PIGZ 80235 broad.mit.edu 37 3 196675332 196675332 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:196675332G>A uc003fxh.2 - 3 583 c.436C>T c.(436-438)CAC>TAC p.H146Y NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 146 Helical; (Potential). GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GGGGCCAGGTGGTACACGGCC 0.667 NaN 0 0 0 1 0 13 24 LRCH3 84859 broad.mit.edu 37 3 197597072 197597072 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:197597072G>A uc011bul.1 + 18 1920 c.1915G>A c.(1915-1917)GAT>AAT p.D639N LRCH3_uc003fyj.1_Missense_Mutation_p.D639N|LRCH3_uc011bum.1_Missense_Mutation_p.D587N|LRCH3_uc011bun.1_Missense_Mutation_p.D485N|LRCH3_uc003fyk.2_Missense_Mutation_p.D234N NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 639 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ACCTACCACTGATTCTACAGA 0.403 NaN 0 0 0 1 0 47 84 ZNF718 255403 broad.mit.edu 37 4 155410 155410 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:155410C>T uc003fzt.3 + 8 1068 c.935C>T c.(934-936)TCA>TTA p.S312L ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.H92Y NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 312 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AAACCCTTCTCATGCGAAGAA 0.388 NaN 0 0 0 1 0 10 17 WHSC1 7468 broad.mit.edu 37 4 1932436 1932436 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:1932436G>A uc003gdz.3 + 6 1670 c.1494G>A c.(1492-1494)CAG>CAA p.Q498Q WHSC1_uc003geb.3_Silent_p.Q498Q|WHSC1_uc003gec.3_Silent_p.Q498Q|WHSC1_uc003ged.3_Silent_p.Q498Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Silent_p.Q498Q|WHSC1_uc010icd.1_Silent_p.Q498Q|WHSC1_uc003gea.1_Silent_p.Q498Q|WHSC1_uc010ice.1_Silent_p.Q498Q|WHSC1_uc003geh.1_Silent_p.Q498Q NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 498 HMG box. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GTGAGAAGCAGAGAGCACGCT 0.537 NaN T IGH@ MM 0 0 0 1 0 17 28 POLN 353497 broad.mit.edu 37 4 2209868 2209868 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:2209868G>A uc003ger.2 - 3 560 c.560C>T c.(559-561)TCT>TTT p.S187F POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S187F NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 187 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) TGAGTTCCCAGAATTTAGGTA 0.368 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 33 54 ADD1 118 broad.mit.edu 37 4 2900171 2900171 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:2900171C>G uc003gfr.2 + 8 1085 c.897C>G c.(895-897)CTC>CTG p.L299L ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.L299L|ADD1_uc003gfo.2_Silent_p.L299L|ADD1_uc003gfp.2_Silent_p.L299L|ADD1_uc003gfq.2_Silent_p.L299L|ADD1_uc003gfs.2_Silent_p.L299L|ADD1_uc003gft.3_Silent_p.L299L|ADD1_uc003gfu.2_Silent_p.L84L NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 299 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTCTTATTCTCCGGAACCATG 0.493 NaN 0 0 0 1 0 57 94 CNO 55330 broad.mit.edu 37 4 6718478 6718478 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:6718478C>G uc003gjp.1 + 1 637 c.542C>G c.(541-543)TCG>TGG p.S181W NM_018366 NP_060836 Q9NUP1 CNO_HUMAN cappuccino 181 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol 0 Colorectal(103;0.0523) AACGTGCCCTCGCTCTTTAGC 0.622 NaN 0 0 0 1 0 6 8 NKX3-2 579 broad.mit.edu 37 4 13543785 13543785 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:13543785C>T uc003gmx.2 - 2 910 c.834G>A c.(832-834)AAG>AAA p.K278K NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 278 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGCCACCTTCTTGGCGGCGG 0.642 NaN 0 0 0 1 0 4 11 PI4K2B 55300 broad.mit.edu 37 4 25253958 25253958 + Nonsense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:25253958C>A uc003grk.2 + 2 417 c.284C>A c.(283-285)TCA>TAA p.S95* PI4K2B_uc011bxs.1_5'UTR NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 95 cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) ATTGGTACTTCAGAGATGAAT 0.383 NaN 1 0 4.35082e-09 1 4.48012e-09 19 37 TXK 7294 broad.mit.edu 37 4 48096182 48096182 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:48096182C>T uc003gxx.3 - 8 707 c.621G>A c.(619-621)AAG>AAA p.K207K TXK_uc003gxy.1_Silent_p.K207K NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 207 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CTGAGTCATTCTTTTTTATCT 0.403 NaN 0 0 0 1 0 22 48 FRYL 285527 broad.mit.edu 37 4 48517101 48517101 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:48517101C>T uc003gyh.1 - 56 8486 c.7881G>A c.(7879-7881)CTG>CTA p.L2627L FRYL_uc003gyf.1_Silent_p.L23L|FRYL_uc003gyg.1_Silent_p.L1323L|FRYL_uc003gyi.1_Silent_p.L1515L NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2627 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CTAGCTCTTTCAGAGCTAAGG 0.428 NaN 0 0 0 1 0 38 69 CWH43 80157 broad.mit.edu 37 4 49052780 49052780 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:49052780C>T uc003gyv.2 + 15 2117 c.1935C>T c.(1933-1935)ATC>ATT p.I645I CWH43_uc011bzl.1_Silent_p.I618I NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 645 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 AATTTAGGATCCCTGATGACC 0.393 NaN 0 0 0 1 0 22 41 SCFD2 152579 broad.mit.edu 37 4 53786903 53786903 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:53786903G>T uc003gzu.2 - 6 1830 c.1696C>A c.(1696-1698)CAT>AAT p.H566N SCFD2_uc010igm.2_Missense_Mutation_p.H566N NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 566 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGGTGGGTATGATTTCCAGGA 0.393 NaN 1 0 1.1804e-14 1 1.23272e-14 25 33 LNX1 84708 broad.mit.edu 37 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:54374161C>T uc003hag.3 - 3 870 c.614G>A c.(613-615)CGA>CAA p.R205Q PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.R109Q|LNX1_uc003hah.3_Intron NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 205 cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCCCTAGTTCGGTTGCTCCG 0.552 NaN 0 0 0 1 0 6 21 KIAA1211 57482 broad.mit.edu 37 4 57173841 57173841 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:57173841C>T uc003hbk.2 + 5 652 c.261C>T c.(259-261)ATC>ATT p.I87I KIAA1211_uc010iha.2_Silent_p.I80I|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 87 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) AGCAGGACATCGTCCTCTCAG 0.517 NaN 0 0 0 1 0 16 28 TECRL 253017 broad.mit.edu 37 4 65194231 65194231 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:65194231A>G uc003hcv.2 - 3 439 c.330T>C c.(328-330)TGT>TGC p.C110C TECRL_uc003hcw.2_Silent_p.C110C NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 110 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GCTTCTTACCACATTCTAGCT 0.299 NaN 0 0 0 1 0 19 40 ALB 213 broad.mit.edu 37 4 74277802 74277802 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:74277802A>T uc003hgs.3 + 7 876 c.803A>T c.(802-804)GAA>GTA p.E268V ALB_uc003hgw.3_Missense_Mutation_p.E76V|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.E268V|ALB_uc010iii.2_Missense_Mutation_p.E153V|ALB_uc003hgu.3_Missense_Mutation_p.E118V|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.E158V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 268 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GTCCACACGGAATGCTGCCAT 0.458 NaN 0 0 0 1 0 32 62 RASSF6 166824 broad.mit.edu 37 4 74453627 74453627 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:74453627G>A uc003hhd.1 - 5 531 c.408C>T c.(406-408)GAC>GAT p.D136D RASSF6_uc003hhc.1_Silent_p.D104D|RASSF6_uc010iik.1_Silent_p.D104D|RASSF6_uc010iil.1_Silent_p.D92D NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 136 apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GATAGAGATCGTCAAATTCCC 0.383 NaN 0 0 0 1 0 19 42 ANKRD56 345079 broad.mit.edu 37 4 77818388 77818388 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:77818388C>T uc003hki.2 - 1 615 c.615G>A c.(613-615)CTG>CTA p.L205L NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 205 Ala-rich. 0 GCAGTACAGCCAGGTTGTTCT 0.731 NaN 0 0 0 1 0 4 4 FRAS1 80144 broad.mit.edu 37 4 79434557 79434557 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:79434557C>T uc003hlb.2 + 65 10465 c.10025C>T c.(10024-10026)TCG>TTG p.S3342L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3337 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATCCACATTTCGGTGCAGATC 0.433 NaN 0 0 0 1 0 46 61 FGF5 2250 broad.mit.edu 37 4 81207685 81207685 + Silent SNP G G A rs3733335 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:81207685G>A uc003hmd.2 + 3 903 c.666G>A c.(664-666)TCG>TCA p.S222S FGF5_uc003hme.2_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 222 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 TCAAGCAGTCGGAGCAGCCAG 0.478 NaN 0 0 0 1 0 45 52 HELQ 113510 broad.mit.edu 37 4 84350762 84350762 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:84350762G>A uc003hom.2 - 12 2612 c.2433C>T c.(2431-2433)CTC>CTT p.L811L HELQ_uc010ikb.2_Silent_p.L744L|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 811 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 CTTTTTGTAGGAGTCCTTTTT 0.328 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 1 0 20 32 C4orf33 132321 broad.mit.edu 37 4 130023826 130023826 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:130023826A>G uc003igu.3 + 2 425 c.61A>G c.(61-63)ATC>GTC p.I21V C4orf33_uc010ioc.1_Missense_Mutation_p.I21V|C4orf33_uc010iod.2_Missense_Mutation_p.I21V NM_173487 NP_775758 Q8N1A6 CD033_HUMAN hypothetical protein LOC132321 21 upper_aerodigestive_tract(1) 1 GCCCGTATTTATCAGGCTGAA 0.408 NaN 0 0 0 1 0 33 80 ACCN5 51802 broad.mit.edu 37 4 156784856 156784856 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:156784856G>C uc003ipe.1 - 2 138 c.91C>G c.(91-93)CCC>GCC p.P31A NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 31 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) CGCTCAGTGGGAGATGGCAGT 0.388 NaN 0 0 0 1 0 52 47 ANP32C 23520 broad.mit.edu 37 4 165118255 165118255 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:165118255G>A uc011cjk.1 - 1 609 c.609C>T c.(607-609)GAC>GAT p.D203D MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 203 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) catcctcctcgtcccctccac 0.085 NaN 0 0 0 1 0 4 11 ODZ3 55714 broad.mit.edu 37 4 183267920 183267920 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:183267920G>A uc003ivd.1 + 2 386 c.349G>A c.(349-351)GAT>AAT p.D117N ODZ3_uc010irv.1_Missense_Mutation_p.D117N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 117 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGCAGGGTCAGATGCTGATAC 0.532 NaN 0 0 0 1 0 4 6 ZNF622 90441 broad.mit.edu 37 5 16458679 16458679 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:16458679G>A uc003jfq.2 - 4 1229 c.1109C>T c.(1108-1110)TCA>TTA p.S370L NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 370 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GTTCTTTTCTGAGGGCAACTC 0.393 NaN 0 0 0 1 0 14 48 LIFR 3977 broad.mit.edu 37 5 38481864 38481864 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:38481864C>T uc010ive.1 - 20 3459 c.3127G>A c.(3127-3129)GAC>AAC p.D1043N LIFR_uc003jli.2_Missense_Mutation_p.D1043N NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 1043 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) CTAGGAGAGTCTGGAGACACT 0.403 NaN T PLAG1 salivary adenoma 0 0 0 1 0 49 89 TTC33 23548 broad.mit.edu 37 5 40716332 40716332 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:40716332G>A uc003jma.2 - 5 852 c.704C>T c.(703-705)TCT>TTT p.S235F TTC33_uc011cpm.1_Missense_Mutation_p.S127F|TTC33_uc010ivg.2_3'UTR NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 235 binding ovary(1) 1 CCCAGAAGCAGACACAATAAC 0.428 NaN 0 0 0 1 0 24 42 PELO 53918 broad.mit.edu 37 5 52096666 52096666 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:52096666C>T uc003jos.2 + 2 1423 c.438C>T c.(436-438)CTC>CTT p.L146L ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron NM_015946 NP_057030 Q9BRX2 PELO_HUMAN pelota homolog 146 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding 0 Lung NSC(810;4.94e-05)|Breast(144;0.0848) AGGAAGGCCTCGCCCATATCT 0.582 NaN 0 0 0 1 0 21 24 SLC38A9 153129 broad.mit.edu 37 5 54929659 54929659 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:54929659C>T uc003jqf.2 - 14 1554 c.1353G>A c.(1351-1353)ATG>ATA p.M451I SLC38A9_uc003jqd.2_Missense_Mutation_p.M388I|SLC38A9_uc010ivx.2_Missense_Mutation_p.M388I|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Missense_Mutation_p.M322I NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 451 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) ATACAGTCATCATCTGGAACA 0.448 NaN 0 0 0 1 0 15 25 CMYA5 202333 broad.mit.edu 37 5 79025761 79025761 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:79025761G>A uc003kgc.2 + 2 1245 c.1173G>A c.(1171-1173)CTG>CTA p.L391L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 391 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTATGTTCCTGAGAACAACAA 0.468 NaN 0 0 0 1 0 16 9 SRP19 6728 broad.mit.edu 37 5 112200214 112200214 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:112200214G>A uc003kqc.2 + 3 259 c.178G>A c.(178-180)GTA>ATA p.V60I SRP19_uc003kqb.1_Missense_Mutation_p.V60I|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_Silent_p.T9T NM_003135 NP_003126 P09132 SRP19_HUMAN signal recognition particle 19kDa 60 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TGGACTTAACGTATTTCTTGA 0.323 NaN 0 0 0 1 0 20 21 DTWD2 285605 broad.mit.edu 37 5 118274974 118274974 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:118274974C>T uc003ksa.2 - 3 355 c.321G>A c.(319-321)GTG>GTA p.V107V NM_173666 NP_775937 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 107 0 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CTGTACGCAACACTTTGTTTT 0.333 NaN 0 0 0 1 0 11 4 LMNB1 4001 broad.mit.edu 37 5 126113516 126113516 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:126113516G>A uc003kud.1 + 1 684 c.316G>A c.(316-318)GAG>AAG p.E106K LMNB1_uc003kuc.2_Missense_Mutation_p.E106K|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Intron NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 106 Coil 1B.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GCTGCAGATCGAGCTGGGCAA 0.711 NaN 0 0 0 1 0 2 0 FBN2 2201 broad.mit.edu 37 5 127685049 127685049 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:127685049A>G uc003kuu.2 - 23 3418 c.2979T>C c.(2977-2979)CGT>CGC p.R993R FBN2_uc003kuv.2_Silent_p.R960R NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 993 EGF-like 14; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCAAACATACACGGCCAGTCC 0.453 NaN 0 0 0 1 0 8 6 SPINK5 11005 broad.mit.edu 37 5 147449958 147449958 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:147449958C>G uc003lox.2 + 3 227 c.154C>G c.(154-156)CAA>GAA p.Q52E SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.Q24E|SPINK5_uc010jgr.2_Missense_Mutation_p.Q33E|SPINK5_uc003low.2_Missense_Mutation_p.Q52E|SPINK5_uc003loy.2_Missense_Mutation_p.Q52E NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 52 Kazal-like 1; atypical. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATTTTTTCAAAGTCTTGA 0.328 NaN 0 0 0 1 0 28 22 SPINK5 11005 broad.mit.edu 37 5 147499895 147499895 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:147499895G>A uc003lox.2 + 26 2552 c.2479G>A c.(2479-2481)GAA>AAA p.E827K SPINK5_uc010jgr.2_Missense_Mutation_p.E808K|SPINK5_uc003low.2_Missense_Mutation_p.E827K|SPINK5_uc003loy.2_Missense_Mutation_p.E827K NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 827 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAGAGGATGAAGACAGGAG 0.393 NaN 0 0 0 1 0 7 7 CSNK1A1 1452 broad.mit.edu 37 5 148930407 148930407 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:148930407C>T uc003lqx.1 - 1 601 c.121G>A c.(121-123)GAG>AAG p.E41K CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Missense_Mutation_p.E41K|CSNK1A1_uc003lqy.1_Missense_Mutation_p.E41K|CSNK1A1_uc010jha.1_Missense_Mutation_p.E41K NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 41 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ATGATTACCTCGCCGTTGGTG 0.547 NaN 0 0 0 1 0 25 17 SNCB 6620 broad.mit.edu 37 5 176053748 176053748 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:176053748C>T uc003mep.2 - 4 579 c.136G>A c.(136-138)GAA>AAA p.E46K SNCB_uc003meq.2_Missense_Mutation_p.E46K|SNCB_uc010jke.1_Missense_Mutation_p.E46K NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 46 3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCACACCTTCTCGGGTCTTG 0.577 NaN 0 0 0 1 0 31 22 SNCB 6620 broad.mit.edu 37 5 176053750 176053750 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:176053750C>T uc003mep.2 - 4 577 c.134G>A c.(133-135)CGA>CAA p.R45Q SNCB_uc003meq.2_Missense_Mutation_p.R45Q|SNCB_uc010jke.1_Missense_Mutation_p.R45Q NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 45 3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACACCTTCTCGGGTCTTGCT 0.572 NaN 0 0 0 1 0 31 22 RREB1 6239 broad.mit.edu 37 6 7182305 7182305 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7182305G>A uc003mxc.2 + 4 551 c.161G>A c.(160-162)AGA>AAA p.R54K RREB1_uc010jnw.2_Missense_Mutation_p.R54K|RREB1_uc003mxb.2_Missense_Mutation_p.R54K|RREB1_uc010jnx.2_Missense_Mutation_p.R54K|RREB1_uc003mxd.2_Missense_Mutation_p.R54K NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 54 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) CGGATTGGCAGAAGGAACCAG 0.527 NaN 0 0 0 1 0 23 15 DSP 1832 broad.mit.edu 37 6 7542296 7542296 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7542296G>A uc003mxp.1 + 1 427 c.148G>A c.(148-150)GAC>AAC p.D50N DSP_uc003mxq.1_Missense_Mutation_p.D50N NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 50 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGTGATCACCGACCAGAACTC 0.701 NaN 0 0 0 1 0 2 1 BMP6 654 broad.mit.edu 37 6 7880494 7880494 + Missense_Mutation SNP C C T rs139361183 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7880494C>T uc003mxu.3 + 7 1638 c.1460C>T c.(1459-1461)TCG>TTG p.S487L NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 487 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) AATGCCATCTCGGTTCTTTAC 0.448 NaN 0 0 0 1 0 56 53 HIST1H1B 3009 broad.mit.edu 37 6 27835260 27835260 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:27835260C>T uc003njx.2 - 1 100 c.48G>A c.(46-48)GAG>GAA p.E16E NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 16 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CCGGGGATTTCTCCACCGGCG 0.582 NaN 0 0 0 1 0 26 11 GNL1 2794 broad.mit.edu 37 6 30523426 30523426 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:30523426C>T uc003nqh.2 - 2 1173 c.145G>A c.(145-147)GAC>AAC p.D49N GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.D47N|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 49 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 TCCGAGGTGTCGGTCTGTTCC 0.662 NaN 0 0 0 1 0 19 17 HLA-C 3107 broad.mit.edu 37 6 31239458 31239458 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31239458C>T uc003nsy.2 - 2 268 c.261G>A c.(259-261)GAG>GAA p.E87E HLA-C_uc011dnj.1_Silent_p.E59E|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Silent_p.E87E|HLA-C_uc010jsl.2_Silent_p.E87E|HLA-C_uc003nta.2_Silent_p.E87E|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 87 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 ACTTCTGTGTCTCCCGGTCCC 0.687 NaN 0 0 0 1 0 16 14 DDAH2 23564 broad.mit.edu 37 6 31695035 31695035 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31695035G>A uc003nwp.2 - 6 1468 c.837C>T c.(835-837)CTC>CTT p.L279L DDAH2_uc003nwq.2_Silent_p.L279L NM_013974 NP_039268 O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 279 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding 0 L-Citrulline(DB00155) GGCGTGTGCTGAGCACCAAGC 0.592 NaN 0 0 0 1 0 50 53 SLC44A4 80736 broad.mit.edu 37 6 31842778 31842778 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31842778G>A uc010jti.2 - 5 336 c.270C>T c.(268-270)AAC>AAT p.N90N SLC44A4_uc011dol.1_Silent_p.N14N|SLC44A4_uc011dom.1_Silent_p.N90N NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 90 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) AGCTGAAGATGTTGAAGTACA 0.597 NaN 0 0 0 1 0 44 27 EHMT2 10919 broad.mit.edu 37 6 31864542 31864542 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31864542C>T uc003nxz.1 - 3 179 c.169G>A c.(169-171)GAC>AAC p.D57N EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.D114N|EHMT2_uc003nya.1_Missense_Mutation_p.D57N|EHMT2_uc003nyb.1_Missense_Mutation_p.D57N|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 57 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 TCCAGGGAGTCGGGGGTGGCC 0.582 NaN 0 0 0 1 0 30 21 RXRB 6257 broad.mit.edu 37 6 33162525 33162525 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:33162525G>A uc003odb.2 - 10 1715 c.1536C>T c.(1534-1536)CTC>CTT p.L512L RXRB_uc003odc.2_Silent_p.L516L|RXRB_uc003odd.2_Silent_p.L416L|RXRB_uc011dqr.1_Silent_p.L326L NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 512 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TGTCACCAATGAGCTTGAAGA 0.557 NaN 0 0 0 1 0 16 13 C6orf89 221477 broad.mit.edu 37 6 36882094 36882094 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:36882094G>A uc003omx.2 + 5 722 c.438G>A c.(436-438)CAG>CAA p.Q146Q C6orf89_uc003omv.2_Silent_p.Q40Q|C6orf89_uc003omw.2_Silent_p.Q153Q|C6orf89_uc011dtr.1_Silent_p.Q40Q|C6orf89_uc003omy.2_5'UTR NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 146 integral to membrane ovary(1) 1 ACTGTGAGCAGAATGAGTCAG 0.517 NaN 0 0 0 1 0 21 21 CCND3 896 broad.mit.edu 37 6 41903779 41903779 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:41903779G>A uc003orn.2 - 5 943 c.778C>T c.(778-780)CAG>TAG p.Q260* CCND3_uc003orp.2_Nonsense_Mutation_p.Q179*|CCND3_uc011duk.1_Nonsense_Mutation_p.Q64*|CCND3_uc003orm.2_Nonsense_Mutation_p.Q210*|CCND3_uc003oro.2_Nonsense_Mutation_p.Q188* NM_001760 NP_001751 P30281 CCND3_HUMAN cyclin D3 isoform 2 260 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGCTGGTCTGAGAGGCTTCC 0.627 NaN T IGH@ MM 0 0 0 1 0 6 3 HMGCLL1 54511 broad.mit.edu 37 6 55304265 55304265 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:55304265C>G uc003pcn.2 - 9 1137 c.978G>C c.(976-978)TTG>TTC p.L326F HMGCLL1_uc003pco.2_Missense_Mutation_p.L296F|HMGCLL1_uc010jzx.2_Missense_Mutation_p.L197F|HMGCLL1_uc011dxc.1_Missense_Mutation_p.L264F|HMGCLL1_uc011dxd.1_Missense_Mutation_p.L193F|HMGCLL1_uc011dxe.1_Missense_Mutation_p.L130F NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 326 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GCATATATATCAAATCCTCAG 0.418 NaN 0 0 0 1 0 30 22 COL9A1 1297 broad.mit.edu 37 6 70944596 70944596 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:70944596C>T uc003pfg.3 - 34 2319 c.2160G>A c.(2158-2160)CGG>CGA p.R720R COL9A1_uc003pfe.3_Silent_p.R269R|COL9A1_uc003pff.3_Silent_p.R477R NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 720 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CAGGAAGCCCCCGACTTCCCT 0.612 NaN 0 0 0 1 0 13 11 LACE1 246269 broad.mit.edu 37 6 108676919 108676919 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:108676919A>G uc003psj.2 + 4 663 c.477A>G c.(475-477)AAA>AAG p.K159K NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 159 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AGAGGAAAAAACGGGTTCATT 0.303 NaN 0 0 0 1 0 34 16 TRAF3IP2 10758 broad.mit.edu 37 6 111912967 111912967 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:111912967G>A uc011ebc.1 - 3 938 c.323C>T c.(322-324)TCT>TTT p.S108F TRAF3IP2_uc003pvg.2_Missense_Mutation_p.S108F|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.S108F NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 117 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) AGAGCACCCAGAAGGGAAAGC 0.552 NaN 0 0 0 1 0 20 17 LAMA4 3910 broad.mit.edu 37 6 112466047 112466047 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:112466047G>A uc003pvu.2 - 19 2751 c.2442C>T c.(2440-2442)AGC>AGT p.S814S LAMA4_uc003pvv.2_Silent_p.S807S|LAMA4_uc003pvt.2_Silent_p.S807S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 814 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCTCTGGATGCTGGCAGAAA 0.488 NaN 0 0 0 1 0 30 12 LAMA2 3908 broad.mit.edu 37 6 129826498 129826498 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:129826498C>T uc003qbn.2 + 60 8806 c.8701C>T c.(8701-8703)CCA>TCA p.P2901S LAMA2_uc003qbo.2_Missense_Mutation_p.P2897S|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2901 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAGAATTGGTCCAGTAAATAT 0.383 NaN 0 0 0 1 0 28 10 REPS1 85021 broad.mit.edu 37 6 139265753 139265753 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:139265753G>A uc003qii.2 - 5 1214 c.635C>T c.(634-636)TCT>TTT p.S212F REPS1_uc003qig.3_Missense_Mutation_p.S212F|REPS1_uc011edr.1_Missense_Mutation_p.S212F|REPS1_uc003qij.2_Missense_Mutation_p.S212F|REPS1_uc003qik.2_Intron NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 212 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) ATCACCAGCAGAAGAACCTAT 0.428 NaN 0 0 0 1 0 22 28 THBS2 7058 broad.mit.edu 37 6 169648584 169648584 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:169648584G>A uc003qwt.2 - 4 785 c.537C>T c.(535-537)TTC>TTT p.F179F NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 179 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGTGCTCGTAGAAGGGCTCGT 0.617 NaN 0 0 0 1 0 39 36 MAFK 7975 broad.mit.edu 37 7 1579901 1579901 + Missense_Mutation SNP G G A rs143840628 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:1579901G>A uc003skr.2 + 3 572 c.361G>A c.(361-363)GTG>ATG p.V121M MAFK_uc003sks.1_RNA NM_002360 NP_002351 O60675 MAFK_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 121 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) CGCGCGCACCGTGGCCCGGGG 0.682 NaN 0 0 0 1 0 3 7 CREB5 9586 broad.mit.edu 37 7 28858777 28858777 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:28858777C>T uc003szq.2 + 11 1798 c.1408C>T c.(1408-1410)CAG>TAG p.Q470* CREB5_uc003szo.2_Nonsense_Mutation_p.Q437*|CREB5_uc003szr.2_Nonsense_Mutation_p.Q463*|CREB5_uc003szs.2_Nonsense_Mutation_p.Q331* NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 470 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AGCTTGCTCCCAGCAACAAGT 0.502 NaN 0 0 0 1 0 46 81 AOAH 313 broad.mit.edu 37 7 36726373 36726373 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:36726373C>T uc003tfh.3 - 2 555 c.154G>A c.(154-156)GAA>AAA p.E52K AOAH_uc010kxf.2_Missense_Mutation_p.E52K|AOAH_uc011kba.1_Intron NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 52 Saposin B-type. inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 GCAAGCTGTTCTATTACAGAC 0.512 NaN 0 0 0 1 0 14 33 NPC1L1 29881 broad.mit.edu 37 7 44556401 44556401 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:44556401G>C uc003tlb.2 - 17 3557 c.3501C>G c.(3499-3501)CTC>CTG p.L1167L NPC1L1_uc003tlc.2_Silent_p.L1140L|NPC1L1_uc011kbw.1_Silent_p.L1094L|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1167 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGAGCAGGTTGAGGAGGCCGG 0.612 NaN 0 0 0 1 0 3 12 TNS3 64759 broad.mit.edu 37 7 47344505 47344505 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:47344505G>A uc003tnv.2 - 21 3114 c.2747C>T c.(2746-2748)TCG>TTG p.S916L TNS3_uc003tnw.2_Missense_Mutation_p.S916L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 916 focal adhesion protein binding ovary(4) 4 GGAGGGCGTCGAGGACGCATC 0.567 NaN 0 0 0 1 0 10 13 ZNF107 51427 broad.mit.edu 37 7 64168093 64168093 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:64168093G>C uc003ttd.2 + 7 2197 c.1411G>C c.(1411-1413)GAG>CAG p.E471Q ZNF107_uc003tte.2_Missense_Mutation_p.E471Q NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 471 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CTATAAATGTGAGGAATGTGG 0.363 NaN 0 0 0 1 0 19 35 TYW1 55253 broad.mit.edu 37 7 66463931 66463931 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:66463931G>A uc003tvn.2 + 3 412 c.263G>A c.(262-264)GGA>GAA p.G88E TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 88 FMN (By similarity).|Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) TCTCAGACTGGAACAGCGAAG 0.378 NaN 0 0 0 1 0 25 56 TRIM50 135892 broad.mit.edu 37 7 72738632 72738632 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:72738632G>A uc010lbd.1 - 2 279 c.154C>T c.(154-156)CGC>TGC p.R52C FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R52C|TRIM50_uc003txz.1_Missense_Mutation_p.R52C NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 52 RING-type. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 ACGGGGCAGCGCAGCTCGGCA 0.677 NaN OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 23 44 PCLO 27445 broad.mit.edu 37 7 82583410 82583410 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:82583410C>T uc003uhx.2 - 5 7148 c.6859G>A c.(6859-6861)GAC>AAC p.D2287N PCLO_uc003uhv.2_Missense_Mutation_p.D2287N|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2218 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAAACAGTGTCAGCAACTGGC 0.393 NaN 0 0 0 1 0 43 88 DBF4 10926 broad.mit.edu 37 7 87533643 87533643 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:87533643A>G uc003ujf.1 + 11 1465 c.961A>G c.(961-963)AGT>GGT p.S321G DBF4_uc003ujh.1_Missense_Mutation_p.S61G|DBF4_uc003ujg.1_Missense_Mutation_p.S97G|DBF4_uc011khf.1_Missense_Mutation_p.S88G NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 321 DBF4-type. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTTTGCACAGAGTAACCAGTA 0.284 NaN 0 0 0 1 0 26 26 ADAM22 53616 broad.mit.edu 37 7 87797475 87797475 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:87797475A>T uc003ujn.2 + 25 2294 c.2215A>T c.(2215-2217)ATA>TTA p.I739L ADAM22_uc003ujk.1_Missense_Mutation_p.I739L|ADAM22_uc003ujl.1_Missense_Mutation_p.I739L|ADAM22_uc003ujm.2_Missense_Mutation_p.I739L|ADAM22_uc003ujo.2_Missense_Mutation_p.I739L|ADAM22_uc003ujp.1_Missense_Mutation_p.I791L NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 739 Helical; (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CAATATCATAATAGGCATAAT 0.363 NaN 0 0 0 1 0 14 34 KRIT1 889 broad.mit.edu 37 7 91863905 91863905 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:91863905C>T uc003ulq.1 - 8 1018 c.847G>A c.(847-849)GAA>AAA p.E283K KRIT1_uc010lev.1_Missense_Mutation_p.E76K|KRIT1_uc003ulr.1_Missense_Mutation_p.E283K|KRIT1_uc003uls.1_Missense_Mutation_p.E283K|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Missense_Mutation_p.E283K|KRIT1_uc003ulv.1_Missense_Mutation_p.E283K NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 283 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CACTGTCGTTCCCTAATCATT 0.368 NaN Familial_Cerebral_Cavernous_Angioma 0 0 0 1 0 26 43 CDK6 1021 broad.mit.edu 37 7 92462443 92462443 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:92462443C>T uc011khw.1 - 2 607 c.195G>A c.(193-195)CTG>CTA p.L65L CDK6_uc010lez.2_Silent_p.L65L NM_001259 NP_001250 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 65 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|skin(1) 2 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCAGGTGCCTCAGCACCGCCA 0.706 NaN T MLLT10 ALL OREG0018165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 5 5 ZAN 7455 broad.mit.edu 37 7 100364685 100364685 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:100364685C>T uc003uwj.2 + 25 4830 c.4665C>T c.(4663-4665)GGC>GGT p.G1555G ZAN_uc003uwk.2_Silent_p.G1555G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.G132G NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1555 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCTTCGATGGCGCCTTGCACC 0.602 NaN 0 0 0 1 0 15 39 NAMPT 10135 broad.mit.edu 37 7 105909656 105909656 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:105909656C>T uc003vdq.2 - 5 858 c.550G>A c.(550-552)GAT>AAT p.D184N NAMPT_uc003vdr.1_Missense_Mutation_p.D184N|NAMPT_uc011klu.1_Missense_Mutation_p.D97N NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 184 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 TCCAGACCATCTAAGTTACCA 0.368 NaN 0 0 0 1 0 11 28 DLD 1738 broad.mit.edu 37 7 107531736 107531736 + Splice_Site SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:107531736T>A uc003vet.2 + 1 149 c.39_splice c.e1+2 p.K13_splice DLD_uc010ljm.1_Splice_Site|DLD_uc011kmg.1_Splice_Site_p.K13_splice|DLD_uc011kmh.1_Splice_Site_p.K13_splice|DLD_uc011kmi.1_Splice_Site NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) TTGGCCAAGGTGAGGGCCGAG 0.622 NaN 0 0 0 1 0 12 21 FOXP2 93986 broad.mit.edu 37 7 114299688 114299688 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:114299688G>T uc003vhb.2 + 13 1981 c.1607G>T c.(1606-1608)CGG>CTG p.R536L FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R561L|FOXP2_uc003vha.2_Missense_Mutation_p.R444L|FOXP2_uc011kmu.1_Missense_Mutation_p.R553L|FOXP2_uc011kmv.1_Missense_Mutation_p.R535L|FOXP2_uc010ljz.1_Missense_Mutation_p.R351L|FOXP2_uc003vhe.1_Missense_Mutation_p.R106L NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 536 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TGGTTTACACGGACATTTGCT 0.343 NaN 1 0 0.00621372 1 0.00624553 9 78 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NaN 0 0 0 1 0 14 30 RBM28 55131 broad.mit.edu 37 7 127961459 127961459 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:127961459G>C uc003vmp.2 - 14 1538 c.1423C>G c.(1423-1425)CAG>GAG p.Q475E RBM28_uc003vmo.2_Missense_Mutation_p.Q92E|RBM28_uc011koj.1_Missense_Mutation_p.Q334E NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 475 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 TTGAGTTTCTGATGCTTCAGC 0.433 NaN 0 0 0 1 0 15 30 TNPO3 23534 broad.mit.edu 37 7 128630024 128630024 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:128630024G>A uc003vol.1 - 11 1863 c.1489C>T c.(1489-1491)CAG>TAG p.Q497* TNPO3_uc003vom.1_Nonsense_Mutation_p.Q431*|TNPO3_uc010lly.1_Nonsense_Mutation_p.Q531*|TNPO3_uc010llz.1_Nonsense_Mutation_p.Q497* NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 497 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 CCAAGGAACTGAGGATTTCGA 0.438 NaN 0 0 0 1 0 23 50 LUC7L2 51631 broad.mit.edu 37 7 139107066 139107066 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:139107066C>T uc003vux.2 + 10 1533 c.1159C>T c.(1159-1161)CGC>TGC p.R387C LUC7L2_uc011kqs.1_Missense_Mutation_p.R384C|LUC7L2_uc011kqt.1_Missense_Mutation_p.R453C|LUC7L2_uc003vuy.2_Missense_Mutation_p.R386C|LUC7L2_uc003vva.2_Missense_Mutation_p.R334C NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 387 Arg/Ser-rich. enzyme binding|metal ion binding 0 Melanoma(164;0.242) CTCTGAAGAGCGCGAAGCAGG 0.468 NaN 0 0 0 1 0 22 73 EZH2 2146 broad.mit.edu 37 7 148523641 148523641 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:148523641G>T uc003wfd.1 - 8 978 c.812C>A c.(811-813)TCT>TAT p.S271Y EZH2_uc011kug.1_Missense_Mutation_p.S262Y|EZH2_uc003wfb.1_Missense_Mutation_p.S271Y|EZH2_uc003wfc.1_Missense_Mutation_p.S232Y|EZH2_uc011kuh.1_Missense_Mutation_p.S262Y|EZH2_uc011kui.1_Missense_Mutation_p.S271Y|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 271 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCTCTGAACAGATTTAGCATT 0.423 NaN Mis DLBCL 1 0 6.72482e-11 1 6.9612e-11 15 37 AGAP3 116988 broad.mit.edu 37 7 150817139 150817139 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:150817139C>T uc003wjg.1 + 8 1038 c.1035C>T c.(1033-1035)ATC>ATT p.I345I AGAP3_uc003wje.1_Silent_p.I117I|AGAP3_uc003wjf.1_Silent_p.I345I|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.I525I|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 309 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 CCCCCAGCATCAGCCAGCGGG 0.652 NaN 0 0 0 1 0 18 12 NOM1 64434 broad.mit.edu 37 7 156746908 156746908 + Silent SNP C C T rs114285170 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:156746908C>T uc003wmy.2 + 3 1239 c.1224C>T c.(1222-1224)TGC>TGT p.C408C NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 408 MIF4G. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGGGTGCCTGCGTCACTGCCT 0.542 NaN 0 0 0 1 0 4 45 ESYT2 57488 broad.mit.edu 37 7 158557520 158557520 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:158557520C>T uc003wob.1 - 9 1159 c.1093G>A c.(1093-1095)GAA>AAA p.E365K ESYT2_uc003woc.1_Missense_Mutation_p.E189K|ESYT2_uc003wod.1_Missense_Mutation_p.E365K|ESYT2_uc003woa.1_5'Flank NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 393 C2 1. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 TCCTGAGCTTCAATAAAATGT 0.428 NaN 0 0 0 1 0 34 64 CSMD1 64478 broad.mit.edu 37 8 4277529 4277529 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:4277529A>G uc011kwk.1 - 3 751 c.361T>C c.(361-363)TGG>CGG p.W121R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 121 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCGTGAACCACAGAGTGAGG 0.413 NaN 0 0 0 1 0 3 5 RP1L1 94137 broad.mit.edu 37 8 10467275 10467275 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:10467275C>T uc003wtc.2 - 4 4562 c.4333G>A c.(4333-4335)GAG>AAG p.E1445K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1445 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCTGTGCCCTCTGCGGGGCAC 0.632 NaN 0 0 0 1 0 99 126 LONRF1 91694 broad.mit.edu 37 8 12583256 12583256 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:12583256C>T uc003wwd.1 - 11 2206 c.2143G>A c.(2143-2145)GAG>AAG p.E715K LONRF1_uc011kxv.1_Missense_Mutation_p.E304K|LONRF1_uc010lsp.1_Missense_Mutation_p.E315K NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 715 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) TCCTCCCTCTCGGGCATTGAT 0.393 NaN 0 0 0 1 0 22 39 DUSP4 1846 broad.mit.edu 37 8 29197718 29197718 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:29197718G>C uc003xhm.2 - 2 866 c.476C>G c.(475-477)TCT>TGT p.S159C DUSP4_uc003xhl.2_Missense_Mutation_p.S68C NM_001394 NP_001385 Q13115 DUS4_HUMAN dual specificity phosphatase 4 isoform 1 159 Rhodanese. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) CTTGGTTTTAGAACAGAATTC 0.572 NaN OREG0018686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 11 5 GTF2E2 2961 broad.mit.edu 37 8 30464631 30464631 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:30464631C>T uc003xig.2 - 6 839 c.586G>A c.(586-588)GAT>AAT p.D196N NM_002095 NP_002086 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, 196 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TTCTTCTTATCGGGACGATTT 0.308 NaN 0 0 0 1 0 23 16 PRKDC 5591 broad.mit.edu 37 8 48749802 48749802 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:48749802C>T uc003xqi.2 - 58 7789 c.7732G>A c.(7732-7734)GAG>AAG p.E2578K PRKDC_uc003xqj.2_Missense_Mutation_p.E2578K|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2578 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGAGGATGCTCGAACATGGGG 0.373 NaN NHEJ 0 0 0 1 0 6 16 NPBWR1 2831 broad.mit.edu 37 8 53853373 53853373 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:53853373C>T uc011ldu.1 + 1 906 c.906C>T c.(904-906)CTC>CTT p.L302L NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 302 Cytoplasmic (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) ACAGCTGCCTCAACCCCTTCC 0.652 NaN 0 0 0 1 0 12 35 TGS1 96764 broad.mit.edu 37 8 56699306 56699306 + Missense_Mutation SNP C C A rs146870824 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:56699306C>A uc003xsj.3 + 4 1236 c.849C>A c.(847-849)AAC>AAA p.N283K TGS1_uc010lyh.2_Missense_Mutation_p.N187K NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 283 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ATGACAAGAACGATGAAAAAT 0.368 NaN 1 0 1.86633e-21 1 1.96298e-21 50 95 IMPAD1 54928 broad.mit.edu 37 8 57905976 57905976 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:57905976C>T uc003xte.3 - 1 452 c.169G>A c.(169-171)GAT>AAT p.D57N NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 57 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GTGCCCCCATcggccgcggcc 0.577 NaN 0 0 0 1 0 6 8 TOX 9760 broad.mit.edu 37 8 59720693 59720693 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:59720693C>T uc003xtw.1 - 8 1749 c.1528G>A c.(1528-1530)GAC>AAC p.D510N NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 510 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CTGCAGTAGTCGTTATTCCAG 0.537 NaN OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 21 43 RRS1 23212 broad.mit.edu 37 8 67342183 67342183 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:67342183C>T uc003xwa.2 + 1 921 c.817C>T c.(817-819)CGT>TGT p.R273C ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 273 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GGAGCTGCTTCGTGTCATGAA 0.557 NaN 0 0 0 1 0 14 25 RDH10 157506 broad.mit.edu 37 8 74231361 74231361 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:74231361G>C uc003xzi.2 + 3 816 c.556G>C c.(556-558)GAG>CAG p.E186Q RDH10_uc003xzj.2_Missense_Mutation_p.E21Q|uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 186 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TACGATGCTGGAGATTAATCA 0.383 NaN 0 0 0 1 0 45 78 LRRCC1 85444 broad.mit.edu 37 8 86048162 86048162 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:86048162G>C uc003ycw.2 + 14 2447 c.2293G>C c.(2293-2295)GAA>CAA p.E765Q LRRCC1_uc010maa.1_Missense_Mutation_p.E466Q|LRRCC1_uc003ycx.2_Missense_Mutation_p.E672Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E745Q NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 765 cell division|mitosis centriole|nucleus 0 TTTAAGGACAGAAAGAAAAGT 0.363 NaN 0 0 0 1 0 20 34 RAD54B 25788 broad.mit.edu 37 8 95419768 95419768 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:95419768C>T uc003ygk.2 - 5 778 c.680G>A c.(679-681)TGT>TAT p.C227Y RAD54B_uc010may.1_Missense_Mutation_p.C34Y|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GTTAGAGAAACATTTCCTGGC 0.428 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 1 0 27 53 OSR2 116039 broad.mit.edu 37 8 99961579 99961579 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:99961579G>C uc003yir.2 + 2 934 c.399G>C c.(397-399)ATG>ATC p.M133I OSR2_uc010mbn.2_Missense_Mutation_p.M133I|OSR2_uc003yiq.2_Missense_Mutation_p.M133I|OSR2_uc011lgx.1_Missense_Mutation_p.M254I NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 133 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CGCCTAAGATGGGAGACCTGA 0.612 NaN 0 0 0 1 0 48 103 FAM83H 286077 broad.mit.edu 37 8 144810877 144810877 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144810877C>G uc003yzk.2 - 5 823 c.754G>C c.(754-756)GAG>CAG p.E252Q FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 252 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGGATCTTCTCAAAGGACCAC 0.657 NaN 0 0 0 1 0 13 28 PLEC 5339 broad.mit.edu 37 8 144995372 144995372 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995372C>G uc003zaf.1 - 32 9198 c.9028G>C c.(9028-9030)GAG>CAG p.E3010Q PLEC_uc003zab.1_Missense_Mutation_p.E2873Q|PLEC_uc003zac.1_Missense_Mutation_p.E2877Q|PLEC_uc003zad.2_Missense_Mutation_p.E2873Q|PLEC_uc003zae.1_Missense_Mutation_p.E2841Q|PLEC_uc003zag.1_Missense_Mutation_p.E2851Q|PLEC_uc003zah.2_Missense_Mutation_p.E2859Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2900Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3010 Globular 2.|Plectin 5. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCGGGGTCCTCCACGCAGCGC 0.647 NaN 0 0 0 1 0 41 76 PLEC 5339 broad.mit.edu 37 8 144995411 144995411 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995411C>T uc003zaf.1 - 32 9159 c.8989G>A c.(8989-8991)GAG>AAG p.E2997K PLEC_uc003zab.1_Missense_Mutation_p.E2860K|PLEC_uc003zac.1_Missense_Mutation_p.E2864K|PLEC_uc003zad.2_Missense_Mutation_p.E2860K|PLEC_uc003zae.1_Missense_Mutation_p.E2828K|PLEC_uc003zag.1_Missense_Mutation_p.E2838K|PLEC_uc003zah.2_Missense_Mutation_p.E2846K|PLEC_uc003zaj.2_Missense_Mutation_p.E2887K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2997 Globular 2.|Plectin 5. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GTGAGGTTCTCGTGCGTGTTG 0.657 NaN 0 0 0 1 0 45 81 PLEC 5339 broad.mit.edu 37 8 144995865 144995865 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995865C>G uc003zaf.1 - 32 8705 c.8535G>C c.(8533-8535)GAG>GAC p.E2845D PLEC_uc003zab.1_Missense_Mutation_p.E2708D|PLEC_uc003zac.1_Missense_Mutation_p.E2712D|PLEC_uc003zad.2_Missense_Mutation_p.E2708D|PLEC_uc003zae.1_Missense_Mutation_p.E2676D|PLEC_uc003zag.1_Missense_Mutation_p.E2686D|PLEC_uc003zah.2_Missense_Mutation_p.E2694D|PLEC_uc003zaj.2_Missense_Mutation_p.E2735D NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2845 Plectin 1.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CACTCAGCTTCTCATTGGTGG 0.672 NaN 0 0 0 1 0 20 39 PLEC 5339 broad.mit.edu 37 8 144996723 144996723 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144996723C>G uc003zaf.1 - 31 7955 c.7785G>C c.(7783-7785)GAG>GAC p.E2595D PLEC_uc003zab.1_Missense_Mutation_p.E2458D|PLEC_uc003zac.1_Missense_Mutation_p.E2462D|PLEC_uc003zad.2_Missense_Mutation_p.E2458D|PLEC_uc003zae.1_Missense_Mutation_p.E2426D|PLEC_uc003zag.1_Missense_Mutation_p.E2436D|PLEC_uc003zah.2_Missense_Mutation_p.E2444D|PLEC_uc003zaj.2_Missense_Mutation_p.E2485D NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2595 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCTTCTCCTTCTCACGCTCCA 0.637 NaN 0 0 0 1 0 9 19 PLEC 5339 broad.mit.edu 37 8 144997295 144997295 + Nonsense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144997295C>A uc003zaf.1 - 31 7383 c.7213G>T c.(7213-7215)GAG>TAG p.E2405* PLEC_uc003zab.1_Nonsense_Mutation_p.E2268*|PLEC_uc003zac.1_Nonsense_Mutation_p.E2272*|PLEC_uc003zad.2_Nonsense_Mutation_p.E2268*|PLEC_uc003zae.1_Nonsense_Mutation_p.E2236*|PLEC_uc003zag.1_Nonsense_Mutation_p.E2246*|PLEC_uc003zah.2_Nonsense_Mutation_p.E2254*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E2295* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2405 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCAGCCTCCTCCTGCAGGAAG 0.642 NaN 1 0 3.07112e-06 1 3.13499e-06 9 21 PPP1R16A 84988 broad.mit.edu 37 8 145726105 145726105 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:145726105G>T uc003zdd.2 + 8 1781 c.868G>T c.(868-870)GAC>TAC p.D290Y uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.D290Y|GPT_uc011lli.1_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 290 ANK 5. plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCACGGGGCCGACCTGAACGC 0.721 NaN 1 0 3.09899e-07 1 3.17444e-07 9 8 SMARCA2 6595 broad.mit.edu 37 9 2115859 2115859 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 A C A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:2115859A>C uc003zhc.2 + 25 3593 c.3494A>C c.(3493-3495)CAG>CCG p.Q1165P SMARCA2_uc003zhd.2_Missense_Mutation_p.Q1165P|SMARCA2_uc010mha.2_Missense_Mutation_p.Q1098P NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1165 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) CGCATCGGGCAGCAGAACGAG 0.562 NaN 0 0 0 1 0 9 8 C9orf102 375748 broad.mit.edu 37 9 98660209 98660209 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:98660209C>T uc004avt.3 + 3 971 c.583C>T c.(583-585)CTA>TTA p.L195L C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 195 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AGAGTTTTTACTAAGAAGTAT 0.338 NaN 0 0 0 1 0 31 62 KIAA1529 57653 broad.mit.edu 37 9 100092767 100092767 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:100092767C>G uc011lut.1 + 30 3314 c.2541C>G c.(2539-2541)TTC>TTG p.F847L KIAA1529_uc004axe.1_Missense_Mutation_p.F847L|KIAA1529_uc004axg.1_Missense_Mutation_p.F708L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F32L|KIAA1529_uc011lus.1_Missense_Mutation_p.F665L|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.F708L|KIAA1529_uc011luv.1_Missense_Mutation_p.F705L NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TGGAGTCCTTCATAACTGAAG 0.463 NaN 0 0 0 1 0 16 36 TRIM14 9830 broad.mit.edu 37 9 100850218 100850218 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:100850218G>T uc004ayd.2 - 6 881 c.863C>A c.(862-864)ACG>AAG p.T288K TRIM14_uc004ayf.1_Missense_Mutation_p.T195K|TRIM14_uc011luz.1_Missense_Mutation_p.T66K|TRIM14_uc011lva.1_Missense_Mutation_p.T69K|TRIM14_uc004ayg.1_Missense_Mutation_p.T288K|TRIM14_uc004ayh.1_Missense_Mutation_p.T288K|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.T195K NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 288 B30.2/SPRY. cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) GCAGCGCACCGTCAGGCGATC 0.736 NaN 1 0 0.115264 1 0.115264 3 8 LCN2 3934 broad.mit.edu 37 9 130911943 130911943 + Splice_Site SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:130911943G>A uc004bto.1 + 1 211 c.138_splice c.e1+1 p.Q46_splice LCN2_uc010mxq.1_Splice_Site_p.Q46_splice|LCN2_uc011map.1_Splice_Site_p.Q46_splice NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 GGACAACCAAGTAAGGGGCCA 0.637 NaN 0 0 0 1 0 18 33 SPTAN1 6709 broad.mit.edu 37 9 131392643 131392643 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:131392643G>A uc004bvl.3 + 51 6849 c.6736G>A c.(6736-6738)GAA>AAA p.E2246K SPTAN1_uc004bvm.3_Missense_Mutation_p.E2251K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2226K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E13K|SPTAN1_uc004bvp.3_5'Flank NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2246 Spectrin 23. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATCCCAGCTTGAAGCTACCAA 0.607 NaN 0 0 0 1 0 22 33 ABL1 25 broad.mit.edu 37 9 133759700 133759700 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:133759700G>A uc004bzw.2 + 11 2026 c.2023G>A c.(2023-2025)GAG>AAG p.E675K ABL1_uc004bzv.2_Missense_Mutation_p.E694K NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 675 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AGCCCTCCGGGAGTCCGGGGG 0.682 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 1 0 20 24 TSC1 7248 broad.mit.edu 37 9 135781455 135781455 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:135781455C>T uc004cca.2 - 15 1744 c.1510G>A c.(1510-1512)GAC>AAC p.D504N TSC1_uc004ccb.3_Missense_Mutation_p.D503N|TSC1_uc011mcq.1_Missense_Mutation_p.D453N|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 504 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AAGGGAGAGTCAAAGCCTCCT 0.532 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 1 0 11 23 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:137328351C>T uc004cfb.2 + 10 1442 c.1280C>T c.(1279-1281)TCC>TTC p.S427F RXRA_uc004cfc.1_Missense_Mutation_p.S330F NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 0 0 0 1 0 25 48 ANAPC2 29882 broad.mit.edu 37 9 140069557 140069557 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:140069557G>A uc004clr.1 - 13 2379 c.2306C>T c.(2305-2307)TCA>TTA p.S769L ANAPC2_uc004clq.1_Missense_Mutation_p.S625L NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 769 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) ACGATCCAGTGAGAGGCTCTC 0.622 NaN 0 0 0 1 0 3 11 MRPL41 64975 broad.mit.edu 37 9 140446839 140446839 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:140446839G>A uc004cnh.3 + 2 436 c.306G>A c.(304-306)AAG>AAA p.K102K PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 102 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CCATCGAAAAGGACTTCAAGG 0.612 NaN 0 0 0 1 0 13 18 NHS 4810 broad.mit.edu 37 X 17746218 17746218 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:17746218C>G uc004cxx.2 + 6 4267 c.3929C>G c.(3928-3930)ACT>AGT p.T1310S NHS_uc011mix.1_Missense_Mutation_p.T1331S|NHS_uc004cxy.2_Missense_Mutation_p.T1154S|NHS_uc004cxz.2_Missense_Mutation_p.T1133S|NHS_uc004cya.2_Missense_Mutation_p.T1033S NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1310 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) GACTCACCAACTAGAGCAACA 0.443 NaN 0 0 0 1 0 49 20 ZNF182 7569 broad.mit.edu 37 X 47842407 47842407 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:47842407G>A uc004dir.2 - 6 577 c.231C>T c.(229-231)CTC>CTT p.L77L ZNF182_uc004dis.2_Silent_p.L58L|ZNF182_uc004dit.2_Silent_p.L77L|ZNF182_uc011mlu.1_Silent_p.L58L NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 CCTCCAACTTGAGGATGAGGT 0.463 NaN 0 0 0 1 0 26 4 DGKK 139189 broad.mit.edu 37 X 50213550 50213550 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:50213550G>A uc010njr.1 - 1 188 c.128C>T c.(127-129)CCG>CTG p.P43L NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 43 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) GAgcagcggcggagccggcgg 0.433 NaN 0 0 0 1 0 20 9 HTATSF1 27336 broad.mit.edu 37 X 135579901 135579901 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:135579901G>A uc004ezw.2 + 2 480 c.58G>A c.(58-60)GAA>AAA p.E20K HTATSF1_uc004ezx.2_Missense_Mutation_p.E20K NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 20 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCGAATGCAAGAATTGTACGG 0.557 NaN 0 0 0 1 0 39 14 FUNDC2 65991 broad.mit.edu 37 X 154282927 154282927 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:154282927C>A uc004fmw.2 + 5 700 c.550C>A c.(550-552)CTG>ATG p.L184M NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 184 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGGCTTTCTGCTTGGCAT 0.448 NaN 1 0 2.81731e-22 1 2.9685e-22 51 25 ARID1A 8289 broad.mit.edu 37 1 27056181 27056191 + Frame_Shift_Del DEL CAGCCATATGG CAGCCATATGG - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 CAGCCATATGG - CAGCCATATGG CAGCCATATGG Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:27056181_27056191delCAGCCATATGG uc001bmv.1 + 2 1550_1560 c.1177_1187delCAGCCATATGG c.(1177-1188)CAGCCATATGGCfs p.Q393fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q10fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 393_396 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y395*(1)|p.Q393*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGAGACCTCAGCCATATGGCGGGACTAAC 0.545 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 22 65 --- --- IFI44L 10964 broad.mit.edu 37 1 79102839 79102840 + Frame_Shift_Ins INS - - A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:79102839_79102840insA uc010oro.1 + 6 1178_1179 c.999_1000insA c.(997-1002)TCTAAAfs p.S333fs IFI44L_uc010orp.1_Frame_Shift_Ins_p.S70fs|IFI44L_uc010orq.1_Frame_Shift_Ins_p.S70fs NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 333_334 cytoplasm 0 ATCTCTACTCTAAAATGTTGGC 0.327 NaN NaN NaN NaN NaN NaN 21 52 --- --- GPR37L1 9283 broad.mit.edu 37 1 202092266 202092267 + In_Frame_Ins INS - - ACA TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:202092266_202092267insACA uc001gxj.2 + 1 238_239 c.175_176insACA c.(175-177)TAT>TACAAT p.59_60insN NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 59_60 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 CGTGCAGCAGTATGTGCCTGAG 0.673 NaN NaN NaN NaN NaN NaN 14 17 --- --- PLEKHA6 22874 broad.mit.edu 37 1 204197926 204197926 + Frame_Shift_Del DEL G G - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204197926delG uc001hau.2 - 20 3132 c.2815delC c.(2815-2817)CTGfs p.L939fs NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 939 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCAGGGCTCAGGGGAGTGTCA 0.557 NaN NaN NaN NaN NaN NaN 15 43 --- --- MS4A2 2206 broad.mit.edu 37 11 59861476 59861476 + Frame_Shift_Del DEL C C - rs143436537 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:59861476delC uc001nop.2 + 6 679 c.577delC c.(577-579)CTTfs p.L193fs MS4A2_uc009ymu.2_3'UTR NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 193 Helical; (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) CATTCTGGGACTTGGTAGTGC 0.403 NaN NaN NaN NaN NaN NaN 8 36 --- --- H2AFX 3014 broad.mit.edu 37 11 118965789 118965815 + In_Frame_Del DEL CCTGGGCGATCGTCACGCCGCCCAGCA CCTGGGCGATCGTCACGCCGCCCAGCA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA uc001pvg.2 - 1 363_389 c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG c.(289-318)CTGCTGGGCGGCGTGACGATCGCCCAGGGA>CGA p.97_106LLGGVTIAQG>R H2AFX_uc001pvh.1_RNA NM_002105 NP_002096 P16104 H2AX_HUMAN H2A histone family, member X 97_106 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) AGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAG 0.692 NaN Chromatin_Structure|Direct_reversal_of_damage OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 16 76 --- --- C14orf49 161176 broad.mit.edu 37 14 95912274 95912289 + Frame_Shift_Del DEL CTGTTATGCAGCAGGT CTGTTATGCAGCAGGT - rs28526182 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:95912274_95912289delCTGTTATGCAGCAGGT uc001yei.3 - 8 1604_1619 c.1589_1604delACCTGCTGCATAACAG c.(1588-1605)GACCTGCTGCATAACAGCfs p.D530fs C14orf49_uc010avi.2_Frame_Shift_Del_p.D530fs|C14orf49_uc001yej.1_Frame_Shift_Del_p.D530fs NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 530_535 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTGCAGGAGGCTGTTATGCAGCAGGTCTCTGTCCCT 0.528 NaN NaN NaN NaN NaN NaN 17 33 --- --- NF1 4763 broad.mit.edu 37 17 29556856 29556866 + Frame_Shift_Del DEL TTATTGACTGA TTATTGACTGA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 TTATTGACTGA - TTATTGACTGA TTATTGACTGA Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:29556856_29556866delTTATTGACTGA uc002hgg.2 + 22 3187_3197 c.2854_2864delTTATTGACTGA c.(2854-2865)TTATTGACTGATfs p.L952fs NF1_uc002hgh.2_Frame_Shift_Del_p.L952fs|NF1_uc010csn.1_Frame_Shift_Del_p.L812fs|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 952_955 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTTAGGTTTTATTGACTGATACCAATACT 0.37 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NaN NaN NaN NaN NaN 23 49 --- --- EPHX3 79852 broad.mit.edu 37 19 15342144 15342157 + Frame_Shift_Del DEL CAAGTCCACAGCCA CAAGTCCACAGCCA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:15342144_15342157delCAAGTCCACAGCCA uc002nap.2 - 3 589_602 c.380_393delTGGCTGTGGACTTG c.(379-393)GTGGCTGTGGACTTGfs p.V127fs EPHX3_uc002naq.2_Frame_Shift_Del_p.V127fs NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 127_131 extracellular region hydrolase activity 0 CATAGCCTCGCAAGTCCACAGCCACAACATGGAA 0.621 NaN NaN NaN NaN NaN NaN 11 49 --- --- FCHO1 23149 broad.mit.edu 37 19 17877494 17877499 + In_Frame_Del DEL TGGGAG TGGGAG - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:17877494_17877499delTGGGAG uc010ebb.2 + 6 400_405 c.211_216delTGGGAG c.(211-216)TGGGAGdel p.WE71del FCHO1_uc002nhg.3_In_Frame_Del_p.WE71del|FCHO1_uc002nhh.2_In_Frame_Del_p.WE71del|FCHO1_uc010xpw.1_In_Frame_Del_p.WE21del|FCHO1_uc010ebc.1_In_Frame_Del_p.WE78del NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 71_72 FCH. breast(1) 1 CGCCCCGCTCTGGGAGGTCTTCCGCG 0.621 NaN NaN NaN NaN NaN NaN 8 20 --- --- C3orf17 25871 broad.mit.edu 37 3 112724493 112724519 + In_Frame_Del DEL CATGGATGCCTCTAAGATTTTCATGAA CATGGATGCCTCTAAGATTTTCATGAA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA uc003dzr.2 - 9 1629_1655 c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG c.(1567-1596)ATTCATGAAAATCTTAGAGGCATCCATGAA>AAA p.523_532IHENLRGIHE>K GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc011bhz.1_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc010hqh.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc003dzt.2_In_Frame_Del_p.426_435IHENLRGIHE>K|C3orf17_uc003dzs.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_uc010hqg.2_In_Frame_Del_p.348_357IHENLRGIHE>K|C3orf17_uc011bia.1_In_Frame_Del_p.320_329IHENLRGIHE>K|C3orf17_uc003dzu.2_In_Frame_Del_p.452_461IHENLRGIHE>K|C3orf17_uc011bib.1_In_Frame_Del_p.412_421IHENLRGIHE>K|C3orf17_uc011bic.1_In_Frame_Del_p.356_365IHENLRGIHE>K|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 523_532 integral to membrane 0 GTTTCATTTTCATGGATGCCTCTAAGATTTTCATGAATCATTTTCTC 0.361 NaN NaN NaN NaN NaN NaN 26 73 --- --- MAGEF1 64110 broad.mit.edu 37 3 184429408 184429414 + Frame_Shift_Del DEL CCAAGGC CCAAGGC - rs6770319 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:184429408_184429414delCCAAGGC uc003fpa.2 - 1 423_429 c.196_202delGCCTTGG c.(196-204)GCCTTGGCAfs p.A66fs NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 66_68 p.L67*(1) ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CTGCGCCTTGCCAAGGCTTTGGCCGCC 0.681 NaN NaN NaN NaN NaN NaN 33 57 --- --- LRRC66 339977 broad.mit.edu 37 4 52863983 52863983 + Frame_Shift_Del DEL C C - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:52863983delC uc003gzi.2 - 3 800 c.787delG c.(787-789)GCAfs p.A263fs NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 263 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGAAAGACTGCCACACTATCA 0.398 NaN NaN NaN NaN NaN NaN 9 170 --- --- PPAP2A 8611 broad.mit.edu 37 5 54721068 54721070 + In_Frame_Del DEL GTT GTT - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:54721068_54721070delGTT uc003jqa.2 - 6 1235_1237 c.819_821delAAC c.(817-822)ACAACT>ACT p.273_274TT>T SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_In_Frame_Del_p.274_275TT>T|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 273_274 Cytoplasmic (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GTGATTCCCAGTTGTTGGTGTTT 0.438 NaN NaN NaN NaN NaN NaN 30 44 --- --- G3BP1 10146 broad.mit.edu 37 5 151179821 151179822 + Frame_Shift_Ins INS - - GGTGG TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:151179821_151179822insGGTGG uc003lun.2 + 10 1169_1170 c.998_999insGGTGG c.(997-999)ATGfs p.M333fs G3BP1_uc003lum.2_Frame_Shift_Ins_p.M333fs|G3BP1_uc011dcu.1_Frame_Shift_Ins_p.M151fs|G3BP1_uc010jhz.2_Frame_Shift_Ins_p.M151fs|G3BP1_uc003luq.2_Frame_Shift_Ins_p.M1fs NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 333 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) CCCCGAAGAATGGTGAGACACC 0.416 NaN NaN NaN NaN NaN NaN 14 24 --- ---