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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HSPG2 3339 broad.mit.edu 37 1 22207993 22207993 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:22207993C>T uc001bfj.2 - 14 1697 c.1657G>A c.(1657-1659)GTG>ATG p.V553M HSPG2_uc009vqd.2_Missense_Mutation_p.V554M NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 553 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCACATTCACACCTGTGGGT 0.617 NA 33 94 0 0 0.004289 0 0 CLCA4 22802 broad.mit.edu 37 1 87031633 87031633 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:87031633C>T uc009wcs.2 + 6 928 c.884C>T c.(883-885)CCT>CTT p.P295L CLCA4_uc009wct.2_Missense_Mutation_p.P58L|CLCA4_uc009wcu.2_Missense_Mutation_p.P115L NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 295 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCTCCTCCACCTGTCTTCTCA 0.403 NA 19 46 0 0 0.00278 0 0 DPH5 51611 broad.mit.edu 37 1 101460684 101460684 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:101460684G>T uc001dts.2 - 6 659 c.512C>A c.(511-513)TCT>TAT p.S171Y DPH5_uc001dtr.2_Missense_Mutation_p.S171Y|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.S171Y|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.S171Y|DPH5_uc001dty.2_Missense_Mutation_p.S50Y|DPH5_uc001dtz.2_RNA NM_015958 NP_057042 Q9H2P9 DPH5_HUMAN diphthine synthase isoform a 171 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity 0 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) ATTTTCCAAAGACTGCTCCTT 0.294 NA 5 19 0.00116845 0.00127686 0.001168 1 0 POLR3C 10623 broad.mit.edu 37 1 145608468 145608468 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:145608468G>A uc001eoh.2 - 3 500 c.339C>T c.(337-339)AAC>AAT p.N113N NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.N126N|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.N113N NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 113 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TCAGTTTGCCGTTCAACAGAA 0.468 NA 4 125 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152279739 152279739 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:152279739G>A uc001ezu.1 - 3 7659 c.7623C>T c.(7621-7623)GCC>GCT p.A2541A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2541 Ser-rich.|Filaggrin 15. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAGCTGTCGGCCCGAGAGG 0.582 NA Ichthyosis 8 392 0 0 0.008291 0 0 FLG2 388698 broad.mit.edu 37 1 152328035 152328035 + Missense_Mutation SNP A A C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:152328035A>C uc001ezw.3 - 3 2300 c.2227T>G c.(2227-2229)TCT>GCT p.S743A uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 743 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGGACTGACCT 0.507 NA 9 547 0 0 0.006214 0 0 FLG2 388698 broad.mit.edu 37 1 152328059 152328059 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:152328059G>A uc001ezw.3 - 3 2276 c.2203C>T c.(2203-2205)CAT>TAT p.H735Y uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 735 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGATCCATGTTGGCCAAAG 0.498 NA 7 530 0 0 0.004482 0 0 ADAR 103 broad.mit.edu 37 1 154561033 154561033 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:154561033T>C uc001ffh.2 - 10 3079 c.2879A>G c.(2878-2880)TAT>TGT p.Y960C ADAR_uc001ffj.2_Missense_Mutation_p.Y915C|ADAR_uc001ffi.2_Missense_Mutation_p.Y934C|ADAR_uc001ffk.2_Missense_Mutation_p.Y665C NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 960 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) AGACCTGATATACAGATGGAA 0.448 NA 30 108 0 0 0.013726 0 0 C1orf104 284618 broad.mit.edu 37 1 155291133 155291133 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:155291133C>T uc001fki.2 - 2 424 c.147G>A c.(145-147)CAG>CAA p.Q49Q RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 49 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GTCCCTTCCTCTGGGAGTAAG 0.647 NA 4 16 0 0 0.009096 0 0 TNN 63923 broad.mit.edu 37 1 175066576 175066576 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:175066576G>T uc001gkl.1 + 8 1725 c.1612G>T c.(1612-1614)GTG>TTG p.V538L TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 538 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGCAAACCTGGTGACTGACCG 0.502 NA 21 37 1.10513e-12 1.54137e-12 0.014323 1 0 C1orf26 54823 broad.mit.edu 37 1 185149536 185149536 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:185149536C>T uc001grg.3 + 6 1094 c.980C>T c.(979-981)CCA>CTA p.P327L C1orf26_uc001grh.3_Missense_Mutation_p.P327L NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 327 0 TTTGAAGCACCATGTTGTTCC 0.249 NA 7 28 0 0 0.001984 0 0 HMCN1 83872 broad.mit.edu 37 1 186106702 186106702 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:186106702G>A uc001grq.1 + 88 13884 c.13655G>A c.(13654-13656)AGG>AAG p.R4552K HMCN1_uc001grs.1_Missense_Mutation_p.R121K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4552 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATCCAAAAGAGGAGTCGTCTG 0.483 NA 6 34 0 0 0.001168 0 0 PRSS38 339501 broad.mit.edu 37 1 228005073 228005073 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:228005073C>T uc001hrh.2 + 3 475 c.475C>T c.(475-477)CGC>TGC p.R159C NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 159 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 GCTGAAGACCCGCATTGTGTT 0.567 NA 14 71 0 0 0.003163 0 0 OR2L8 391190 broad.mit.edu 37 1 248112889 248112889 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:248112889C>A uc001idt.1 + 1 730 c.730C>A c.(730-732)CTC>ATC p.L244I OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGCACCCACCTCACTGTAGT 0.458 NA 30 82 1.96642e-18 2.93578e-18 0.006999 1 0 SFMBT2 57713 broad.mit.edu 37 10 7230597 7230597 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:7230597C>T uc009xio.1 - 16 1888 c.1797G>A c.(1795-1797)ACG>ACA p.T599T SFMBT2_uc001ijn.1_Silent_p.T599T|SFMBT2_uc010qay.1_Silent_p.T434T NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 599 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TGGCCTTCAGCGTCTCTTCCT 0.443 NA 11 31 0 0 0.008291 0 0 CUBN 8029 broad.mit.edu 37 10 17087120 17087120 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:17087120G>T uc001ioo.2 - 25 3610 c.3558C>A c.(3556-3558)TAC>TAA p.Y1186* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1186 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGAGCTGTGGTAATAGGGCA 0.488 NA 16 49 6.49762e-13 9.12249e-13 0.006122 1 0 PCDH15 65217 broad.mit.edu 37 10 55755437 55755437 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:55755437G>C uc001jju.1 - 21 3235 c.2840C>G c.(2839-2841)ACA>AGA p.T947R PCDH15_uc010qhq.1_Missense_Mutation_p.T952R|PCDH15_uc010qhr.1_Missense_Mutation_p.T947R|PCDH15_uc010qhs.1_Missense_Mutation_p.T959R|PCDH15_uc010qht.1_Missense_Mutation_p.T954R|PCDH15_uc010qhu.1_Missense_Mutation_p.T947R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T947R|PCDH15_uc010qhw.1_Missense_Mutation_p.T910R|PCDH15_uc010qhx.1_Missense_Mutation_p.T876R|PCDH15_uc010qhy.1_Missense_Mutation_p.T952R|PCDH15_uc010qhz.1_Missense_Mutation_p.T947R|PCDH15_uc010qia.1_Missense_Mutation_p.T925R|PCDH15_uc010qib.1_Missense_Mutation_p.T925R|PCDH15_uc001jjw.2_Missense_Mutation_p.T947R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 947 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGCATAAACTGTTGTGATAGG 0.388 NA HNSCC(58;0.16) 19 69 0 0 0.00278 0 0 TLL2 7093 broad.mit.edu 37 10 98145954 98145954 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:98145954A>T uc001kml.1 - 15 2097 c.1871T>A c.(1870-1872)ATT>AAT p.I624N NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 624 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CAGCTTGGTAATGAAACCGCC 0.552 NA 24 86 0 0 0.004656 0 0 MKI67 4288 broad.mit.edu 37 10 129911758 129911758 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:129911758C>A uc001lke.2 - 8 1784 c.1589G>T c.(1588-1590)GGA>GTA p.G530V MKI67_uc001lkf.2_Missense_Mutation_p.G170V|MKI67_uc009yav.1_Missense_Mutation_p.G105V|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 530 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGGGCTTCTCCCCTTTTGAG 0.473 NA 36 76 1.04594e-18 1.58385e-18 0.00623 1 0 OR56A3 390083 broad.mit.edu 37 11 5969311 5969311 + Nonsense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:5969311T>A uc010qzt.1 + 1 735 c.735T>A c.(733-735)TGT>TGA p.C245* NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAGCACATGTGGCTCCCACT 0.517 NA 58 151 0 0 0.01441 0 0 TPP1 1200 broad.mit.edu 37 11 6637975 6637975 + Missense_Mutation SNP C C G rs141920079 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:6637975C>G uc001mel.1 - 7 864 c.803G>C c.(802-804)CGG>CCG p.R268P TPP1_uc001mek.1_Missense_Mutation_p.R25P NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 268 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AATCCCGGCCCGGCCCCGGCC 0.577 NA 27 138 0 0 0.010818 0 0 MPPED2 744 broad.mit.edu 37 11 30601847 30601848 + Missense_Mutation DNP GC GC AA TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:30601847_30601848GC>AA uc001msr.2 - 1 193_194 c.73_74GC>TT c.(73-75)GCA>TTA p.A25L MPPED2_uc001msq.3_Missense_Mutation_p.A25L|MPPED2_uc009yji.2_5'UTR NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 25 nervous system development hydrolase activity|metal ion binding skin(1) 1 GTGCGTGAATGCCTGGGTGGGG 0.436 NA 30 73 0 0 0.004672 0 0 OR5B21 219968 broad.mit.edu 37 11 58275029 58275029 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:58275029C>A uc010rki.1 - 1 550 c.550G>T c.(550-552)GCT>TCT p.A184S NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATGAGAGAGCCAGGAGTGGG 0.473 NA 10 25 9.05144e-12 1.22223e-11 0.001855 1 0 CNTF 1270 broad.mit.edu 37 11 58391799 58391799 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:58391799G>C uc001nna.3 + 2 487 c.407G>C c.(406-408)CGC>CCC p.R136P ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 136 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AAGATCCCCCGCAATGAGGCT 0.483 NA 13 39 0 0 0.001855 0 0 RARRES3 5920 broad.mit.edu 37 11 63312096 63312096 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:63312096A>G uc001nxf.3 + 3 190 c.122A>G c.(121-123)GAG>GGG p.E41G NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 41 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 ATTGCAGGTGAGTACCCCGGG 0.547 NA 63 205 0 0 0.01441 0 0 MMP7 4316 broad.mit.edu 37 11 102401431 102401431 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:102401431T>C uc001phb.2 - 1 48 c.1A>G c.(1-3)ATG>GTG p.M1V MMP7_uc009yxd.2_Missense_Mutation_p.M1V|MMP7_uc010rus.1_Missense_Mutation_p.M1V NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 1 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GTGAGTCGCATAGCTGCCGTC 0.547 NA 14 31 0 0 0.006122 0 0 ATM 472 broad.mit.edu 37 11 108163369 108163369 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:108163369C>A uc001pkb.1 + 30 4845 c.4460C>A c.(4459-4461)TCA>TAA p.S1487* ATM_uc009yxr.1_Nonsense_Mutation_p.S1487*|ATM_uc001pke.1_Nonsense_Mutation_p.S139*|ATM_uc001pkf.2_Intron NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1487 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATGGATGTGTCATTACGTAGC 0.363 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 44 100 1.66251e-12 2.28864e-12 0.01441 1 0 KIAA0528 9847 broad.mit.edu 37 12 22631320 22631320 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:22631320T>A uc001rfq.2 - 15 2057 c.1829A>T c.(1828-1830)CAC>CTC p.H610L KIAA0528_uc010sir.1_Missense_Mutation_p.H425L|KIAA0528_uc010sis.1_Missense_Mutation_p.H610L|KIAA0528_uc010sit.1_Missense_Mutation_p.H612L|KIAA0528_uc010siu.1_Missense_Mutation_p.H610L|KIAA0528_uc001rfr.2_Missense_Mutation_p.H601L|KIAA0528_uc009ziy.1_Missense_Mutation_p.H612L NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 610 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 ATGAGAGATGTGTTGTTCATA 0.368 NA 8 23 0 0 0.004482 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 29 0 0 0.001984 0 0 RAB5B 5869 broad.mit.edu 37 12 56380786 56380786 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:56380786G>T uc001siv.2 + 2 159 c.42G>T c.(40-42)CAG>CAT p.Q14H RAB5B_uc001siw.2_Missense_Mutation_p.Q14H|RAB5B_uc009zog.2_Missense_Mutation_p.R5M|RAB5B_uc010spz.1_Missense_Mutation_p.Q14H NM_002868 NP_002859 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 14 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GGCAACCCCAGGCCAGCAAAA 0.388 NA 15 50 4.63292e-17 6.77365e-17 0.008871 1 0 TMEM5 10329 broad.mit.edu 37 12 64202608 64202608 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:64202608G>T uc001srq.1 + 6 1172 c.1068G>T c.(1066-1068)GTG>GTT p.V356V TMEM5_uc001srr.1_Silent_p.V253V|TMEM5_uc001srs.1_Silent_p.V96V NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 356 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TGGAAGACGTGATGACAGCTG 0.493 NA 26 77 2.85442e-18 4.23172e-18 0.010818 1 0 TMTC2 160335 broad.mit.edu 37 12 83444707 83444707 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:83444707G>T uc001szt.2 + 10 2609 c.2177G>T c.(2176-2178)CGT>CTT p.R726L TMTC2_uc010suk.1_Missense_Mutation_p.R481L NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 726 TPR 8. endoplasmic reticulum|integral to membrane binding ovary(2) 2 GAAGAAGCTCGTCTCATAGAA 0.383 NA 8 26 3.09899e-07 3.64992e-07 0.004482 1 0 POLR3B 55703 broad.mit.edu 37 12 106857254 106857254 + Splice_Site SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:106857254A>G uc001tlp.2 + 23 2793 c.2571_splice c.e23-2 p.T857_splice POLR3B_uc001tlq.2_Splice_Site_p.T799_splice NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TCTTAACACCAGCTACAAAGG 0.378 NA 13 38 0 0 0.00499 0 0 TMEM120B 144404 broad.mit.edu 37 12 122190118 122190118 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:122190118C>T uc001ubc.3 + 5 594 c.450C>T c.(448-450)GTC>GTT p.V150V TMEM120B_uc009zxh.2_Silent_p.V150V NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 150 Helical; (Potential). integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) GTCGATTTGTCCTTCACTACA 0.607 NA 18 77 0 0 0.007413 0 0 C13orf23 80209 broad.mit.edu 37 13 39587831 39587831 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr13:39587831C>A uc001uwy.2 - 11 2431 c.1558G>T c.(1558-1560)GCC>TCC p.A520S C13orf23_uc001uwz.2_Missense_Mutation_p.A498S NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 520 Ser-rich. ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GCTGATGGGGCATAGCACTTG 0.552 NA 12 21 7.03913e-09 8.83015e-09 0.013537 1 0 GPC6 10082 broad.mit.edu 37 13 94482699 94482699 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr13:94482699C>A uc001vlt.2 + 3 1244 c.612C>A c.(610-612)CCC>CCA p.P204P GPC6_uc010tig.1_Silent_p.P204P|GPC6_uc001vlu.1_Silent_p.P134P NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 204 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAGACGTGCCCCGGAAACTGA 0.512 NA 10 23 0.00621372 0.00665307 0.006214 1 0 OR4M1 441670 broad.mit.edu 37 14 20249076 20249076 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:20249076A>T uc010tku.1 + 1 595 c.595A>T c.(595-597)ATG>TTG p.M199L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAGTTAGTGATGATCTGTAG 0.478 NA 60 116 0 0 0.01441 0 0 LTB4R 1241 broad.mit.edu 37 14 24785514 24785514 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:24785514C>A uc001wos.2 + 2 978 c.657C>A c.(655-657)ACC>ACA p.T219T LTB4R_uc010alp.2_Silent_p.T219T|LTB4R_uc001wou.2_Silent_p.T219T NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 219 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) GCCGCCGCACCGGCCGCCTGG 0.716 NA 8 24 0.00829132 0.0087888 0.008291 1 0 NPAS3 64067 broad.mit.edu 37 14 34269442 34269442 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:34269442C>A uc001wru.2 + 12 1993 c.1929C>A c.(1927-1929)GCC>GCA p.A643A NPAS3_uc001wrs.2_Silent_p.A630A|NPAS3_uc001wrt.2_Silent_p.A611A|NPAS3_uc001wrv.2_Silent_p.A613A NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 643 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CCAACAGTGCCTCGGTGCTCA 0.662 NA 33 34 2.04263e-09 2.59304e-09 0.004289 1 0 LRFN5 145581 broad.mit.edu 37 14 42356845 42356845 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:42356845C>A uc001wvm.2 + 3 2215 c.1017C>A c.(1015-1017)AAC>AAA p.N339K LRFN5_uc010ana.2_Missense_Mutation_p.N339K NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 339 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGTATGATAACGGAACACTTG 0.448 NA HNSCC(30;0.082) 47 72 4.02871e-13 5.6939e-13 0.01441 1 0 DDHD1 80821 broad.mit.edu 37 14 53619303 53619303 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:53619303A>T uc001xai.2 - 1 744 c.514T>A c.(514-516)TAC>AAC p.Y172N DDHD1_uc001xaj.2_Missense_Mutation_p.Y172N|DDHD1_uc001xah.2_Missense_Mutation_p.Y172N NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 172 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) TCCTCCTTGTAGAACCAGCGT 0.677 NA 9 56 0 0 0.013537 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68282537 68282537 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:68282537C>T uc001xka.2 - 2 283 c.144G>A c.(142-144)AAG>AAA p.K48K ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.K48K|ZFYVE26_uc010tta.1_Silent_p.K48K NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 48 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) CTTCTACCCTCTTTGGGATAT 0.522 NA 4 135 0 0 0.009096 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713810 70713810 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:70713810C>A uc010ttg.1 - 1 709 c.58G>T c.(58-60)GCT>TCT p.A20S NR_003951 SubName: Full=ADAM21-like protein; 0 GAGTTCTCAGCCTCTTCAAAT 0.433 NA 14 60 1.15088e-07 1.37071e-07 0.004007 1 0 DICER1 23405 broad.mit.edu 37 14 95598876 95598876 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:95598876T>C uc001ydw.2 - 4 465 c.283A>G c.(283-285)AGG>GGG p.R95G DICER1_uc001ydv.2_Missense_Mutation_p.R85G|DICER1_uc001ydx.2_Missense_Mutation_p.R95G|DICER1_uc001ydz.1_RNA|DICER1_uc001yea.1_RNA|DICER1_uc001yeb.1_RNA NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 95 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AACACCGTCCTTTTTCCATTT 0.383 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 3 128 0 0 0.004672 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416061 105416061 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:105416061C>A uc010axc.1 - 7 5847 c.5727G>T c.(5725-5727)GTG>GTT p.V1909V AHNAK2_uc001ypx.2_Silent_p.V1809V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1909 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCATATCCACCTTGGGCA 0.617 NA 12 199 6.31663e-08 7.65214e-08 0.003163 1 0 C15orf2 23742 broad.mit.edu 37 15 24923826 24923826 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:24923826G>T uc001ywo.2 + 1 3286 c.2812G>T c.(2812-2814)GGC>TGC p.G938C NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 938 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCCACTGAGTGGCAGCATAAT 0.488 NA 12 69 9.04627e-18 1.33181e-17 0.001855 1 0 RAD51 5888 broad.mit.edu 37 15 41022102 41022102 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:41022102G>A uc001zmi.3 + 9 1125 c.826G>A c.(826-828)GCA>ACA p.A276T RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Missense_Mutation_p.A277T|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.A277T NM_002875 NP_002866 Q06609 RAD51_HUMAN RAD51 homolog protein isoform 1 276 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity 0 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) AGTGGATGGAGCAGCGATGTT 0.438 NA Homologous_recombination 3 37 0 0 0.004672 0 0 C15orf26 161502 broad.mit.edu 37 15 81429038 81429038 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:81429038G>A uc002bgb.2 + 3 368 c.341G>A c.(340-342)AGC>AAC p.S114N C15orf26_uc010blp.1_Missense_Mutation_p.S89N NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 114 0 TGTGGCCTGAGCGCAGTTCAA 0.423 NA 6 52 0 0 0.001984 0 0 ACAN 176 broad.mit.edu 37 15 89382237 89382237 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:89382237C>A uc010upo.1 + 3 788 c.414C>A c.(412-414)GGC>GGA p.G138G ACAN_uc002bmx.2_Silent_p.G138G|ACAN_uc010upp.1_Silent_p.G138G|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 138 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) TGATGCATGGCATCGAGGACA 0.607 NA 13 56 1.49906e-05 1.73661e-05 0.00245 1 0 PPL 5493 broad.mit.edu 37 16 4960865 4960865 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:4960865C>T uc002cyd.1 - 2 238 c.148G>A c.(148-150)GCC>ACC p.A50T NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 50 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TGCATCTTGGCCTCTGTGTCC 0.567 NA 9 92 0 0 0.010729 0 0 A2BP1 54715 broad.mit.edu 37 16 7759094 7759094 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:7759094C>A uc002cys.2 + 15 2020 c.1032C>A c.(1030-1032)CAC>CAA p.H344Q A2BP1_uc002cyt.2_Missense_Mutation_p.H317Q|A2BP1_uc010uxz.1_Missense_Mutation_p.H387Q|A2BP1_uc010uya.1_Missense_Mutation_p.T319K|A2BP1_uc010uyb.1_Missense_Mutation_p.H344Q|A2BP1_uc002cyw.2_Missense_Mutation_p.T383K|A2BP1_uc002cyy.2_Missense_Mutation_p.H365Q|A2BP1_uc002cyx.2_Missense_Mutation_p.H365Q|A2BP1_uc010uyc.1_Missense_Mutation_p.H338Q NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 344 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CCTACCACCACGCACTTGCTC 0.498 NA 17 78 0.000295444 0.000327927 0.014323 1 0 ABCC6 368 broad.mit.edu 37 16 16255397 16255397 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:16255397G>A uc002den.3 - 25 3568 c.3531C>T c.(3529-3531)CTC>CTT p.L1177L ABCC6_uc010bvo.2_RNA NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1177 Helical; Name=16; (By similarity).|ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CATTCCCCAGGAGCTCCACAT 0.607 NA 3 44 0 0 0.004672 0 0 ERN2 10595 broad.mit.edu 37 16 23718096 23718096 + Missense_Mutation SNP G G T rs143761786 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:23718096G>T uc002dma.3 - 6 779 c.610C>A c.(610-612)CGC>AGC p.R204S ERN2_uc010bxp.2_Missense_Mutation_p.R204S|ERN2_uc010bxq.1_Missense_Mutation_p.R12S NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 156 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) ATGTAGAGGCGGGGGGTGGAG 0.607 NA 15 62 2.52088e-20 3.87265e-20 0.00278 1 0 DOC2A 8448 broad.mit.edu 37 16 30020381 30020381 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:30020381C>G uc002dvm.2 - 5 563 c.463G>C c.(463-465)GTG>CTG p.V155L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.V155L|DOC2A_uc002dvn.2_Missense_Mutation_p.V155L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.V155L|DOC2A_uc002dvp.2_Missense_Mutation_p.V155L|DOC2A_uc002dvq.2_Missense_Mutation_p.V155L NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 155 C2 1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 TCATTCCACACGGGATTCAGT 0.567 NA 7 60 0 0 0.001984 0 0 ITGAX 3687 broad.mit.edu 37 16 31384586 31384586 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:31384586G>T uc002ebu.1 + 20 2450 c.2383G>T c.(2383-2385)GTG>TTG p.V795L ITGAX_uc002ebt.2_Missense_Mutation_p.V795L NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 795 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTCCCTGCTGGTGGGGAGTAA 0.542 NA 18 79 4.35082e-09 5.49032e-09 0.010504 1 0 ARMC5 79798 broad.mit.edu 37 16 31474186 31474186 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:31474186C>G uc002ecc.2 + 3 1847 c.1318C>G c.(1318-1320)CCT>GCT p.P440A ARMC5_uc010vfn.1_Missense_Mutation_p.P535A|ARMC5_uc010vfo.1_Missense_Mutation_p.P472A|ARMC5_uc002eca.3_Missense_Mutation_p.P440A|ARMC5_uc010vfp.1_Missense_Mutation_p.P248A|ARMC5_uc002ecb.2_Missense_Mutation_p.P440A NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 440 ARM 7. binding pancreas(1) 1 CTGGGACTTTCCTGAGGAGAG 0.627 NA 3 14 0 0 0.004672 0 0 CDH8 1006 broad.mit.edu 37 16 62055216 62055216 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:62055216G>A uc002eog.1 - 2 344 c.92C>T c.(91-93)CCG>CTG p.P31L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGATTCATCGGAGCCATGTA 0.458 NA 5 45 0 0 0.000602 0 0 ZNF821 55565 broad.mit.edu 37 16 71913844 71913844 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:71913844G>A uc010vmj.1 - 2 382 c.6C>T c.(4-6)TCC>TCT p.S2S ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Silent_p.S2S|ZNF821_uc002fbg.3_5'UTR|ZNF821_uc002fbh.3_Silent_p.S2S|ZNF821_uc002fbi.3_5'UTR NM_017530 NP_060000 O75541 ZN821_HUMAN zinc finger protein 821 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTCCGACGGGACATGTTTC 0.448 NA 14 153 0 0 0.004007 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369751 77369751 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:77369751G>T uc002ffc.3 - 12 2180 c.1761C>A c.(1759-1761)CCC>CCA p.P587P ADAMTS18_uc010chc.1_Silent_p.P175P|ADAMTS18_uc002ffe.1_Silent_p.P283P NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 587 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GGCCGTGGATGGGCCGGGGCC 0.577 NA 56 98 2.6711e-34 4.2577e-34 0.01441 1 0 ACSF3 197322 broad.mit.edu 37 16 89178532 89178532 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:89178532G>T uc002fmp.2 + 5 1195 c.855G>T c.(853-855)CCG>CCT p.P285P ACSF3_uc010cig.1_Silent_p.P285P|ACSF3_uc010cih.1_Silent_p.P20P|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Silent_p.P20P NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 285 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) CTGAAACGCCGCGGATCAATG 0.532 NA 49 114 2.24722e-20 3.47745e-20 0.01441 1 0 RANGRF 29098 broad.mit.edu 37 17 8193136 8193136 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:8193136A>G uc002gkv.2 + 5 561 c.443A>G c.(442-444)GAC>GGC p.D148G SLC25A35_uc002gku.1_Intron|SLC25A35_uc002gkt.2_Intron|RANGRF_uc002gkw.2_Nonstop_Mutation_p.*119W|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_Intron NM_016492 NP_057576 Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 148 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity 0 CCAAGCCCTGACAACAGGTCA 0.542 NA 11 58 0 0 0.001855 0 0 EPN2 22905 broad.mit.edu 37 17 19186997 19186997 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:19186997G>T uc002gvd.3 + 3 1013 c.565G>T c.(565-567)GCC>TCC p.A189S EPN2_uc002gvc.2_Missense_Mutation_p.A189S|EPN2_uc010vyn.1_Missense_Mutation_p.A189S|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.A189S|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.A189S|EPN2_uc010vyp.1_Missense_Mutation_p.A189S|EPN2_uc010vyq.1_Missense_Mutation_p.A189S|EPN2_uc002gvh.1_Missense_Mutation_p.A189S NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 189 endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GTATGGCAAGGCCGGGGGCTC 0.627 NA 3 22 1.024e-07 1.23345e-07 0.000602 1 0 KRT35 3886 broad.mit.edu 37 17 39633315 39633315 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:39633315C>T uc002hws.2 - 7 1404 c.1361G>A c.(1360-1362)CGG>CAG p.R454Q NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 454 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) CTCTCAGAACCGACCCCCTGG 0.602 NA 15 49 0 0 0.008871 0 0 COIL 8161 broad.mit.edu 37 17 55028031 55028031 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:55028031C>T uc002iuu.2 - 2 603 c.572G>A c.(571-573)TGT>TAT p.C191Y NM_004645 NP_004636 P38432 COIL_HUMAN coilin 191 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) TTTATATTCACATTTCTCCTT 0.393 NA 34 50 0 0 0.003271 0 0 ITGB4 3691 broad.mit.edu 37 17 73738716 73738716 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:73738716G>T uc002jpg.2 + 25 3023 c.2836G>T c.(2836-2838)GTG>TTG p.V946L ITGB4_uc002jph.2_Missense_Mutation_p.V946L|ITGB4_uc002jpi.3_Missense_Mutation_p.V946L|ITGB4_uc010dgp.1_Missense_Mutation_p.G958V|ITGB4_uc002jpj.2_Missense_Mutation_p.V946L NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 946 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGACGTACGGGTGCCCCTCTT 0.687 NA 14 57 1.02788e-11 1.37919e-11 0.00499 1 0 CSNK1D 1453 broad.mit.edu 37 17 80210968 80210968 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:80210968C>A uc002kej.2 - 4 805 c.489G>T c.(487-489)CAG>CAT p.Q163H SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.Q163H|CSNK1D_uc002kei.2_Missense_Mutation_p.Q163H|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.Q28H|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 163 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) AGGGGATGTGCTGGTGGGTGC 0.602 NA 17 97 3.41278e-10 4.43871e-10 0.00499 1 0 ARHGAP28 79822 broad.mit.edu 37 18 6873574 6873574 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:6873574G>T uc010wzi.1 + 7 827 c.589_splice c.e7+1 p.D197_splice ARHGAP28_uc002knc.2_Splice_Site_p.D322_splice|ARHGAP28_uc002knd.2_Splice_Site_p.D215_splice|ARHGAP28_uc002kne.2_Splice_Site_p.D215_splice|ARHGAP28_uc002knf.2_Splice_Site_p.D206_splice B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) AAAGGACGAGGTAACTAAGAA 0.358 NA 8 55 0.00621372 0.00665307 0.006214 1 0 MC2R 4158 broad.mit.edu 37 18 13885199 13885199 + Missense_Mutation SNP C C T rs104894661 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:13885199C>T uc002ksp.1 - 2 496 c.319G>A c.(319-321)GAC>AAC p.D107N NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 107 Helical; Name=3; (By similarity). D -> N (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AACAGGGAGTCGATGATGTCA 0.498 Colon(141;1584 1782 35999 48227 48692) NA 9 51 0 0 0.006214 0 0 CABYR 26256 broad.mit.edu 37 18 21736900 21736900 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:21736900C>A uc002kux.2 + 4 1587 c.1435C>A c.(1435-1437)CTT>ATT p.L479I CABYR_uc010xbb.1_Missense_Mutation_p.L381I|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.L461I|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA NM_012189 NP_036321 O75952 CABYR_HUMAN calcium-binding tyrosine 479 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding 0 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCCAGAAGGCCTTACTGCACC 0.468 NA 14 26 6.31663e-08 7.65214e-08 0.003163 1 0 SS18 6760 broad.mit.edu 37 18 23619334 23619334 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:23619334T>C uc002kvm.2 - 6 772 c.694A>G c.(694-696)ATG>GTG p.M232V SS18_uc002kvn.2_Missense_Mutation_p.M232V|SS18_uc010xbf.1_Missense_Mutation_p.M150V|SS18_uc010xbg.1_Missense_Mutation_p.M180V|SS18_uc010xbh.1_Missense_Mutation_p.M180V|SS18_uc010xbi.1_Missense_Mutation_p.M209V|SS18_uc010dlz.1_Missense_Mutation_p.M180V NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 232 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) ATCATTCCCATAGGTGGCTGC 0.478 NA T SSX1| SSX2 synovial sarcoma 40 110 0 0 0.006999 0 0 SERPINB4 6318 broad.mit.edu 37 18 61328409 61328409 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:61328409G>A uc002ljg.2 - 1 68 c.42C>T c.(40-42)GAC>GAT p.D14D SERPINB3_uc002lji.2_Silent_p.D14D|SERPINB3_uc010dqa.2_Silent_p.D14D|SERPINB3_uc010dqb.2_Silent_p.D14D|SERPINB3_uc010dqc.2_Silent_p.D14D P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 14 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 GTTGGAACAGGTCGAACATGA 0.433 NA 12 188 0 0 0.010729 0 0 TUBB4 10382 broad.mit.edu 37 19 6496074 6496074 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:6496074C>T uc002mfg.1 - 4 543 c.436G>A c.(436-438)GGA>AGA p.G146R TUBB4_uc002mff.1_Missense_Mutation_p.G74R NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 146 GTP (Potential). 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GTGCCCATTCCGGACCCCGTG 0.637 NA 8 60 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9067611 9067611 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9067611G>T uc002mkp.2 - 3 20039 c.19835C>A c.(19834-19836)GCC>GAC p.A6612D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6614 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCTGAGTAGGCTGGGACAGA 0.443 NA 49 87 2.82306e-37 4.53401e-37 0.01441 1 0 MUC16 94025 broad.mit.edu 37 19 9076071 9076071 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9076071A>G uc002mkp.2 - 3 11579 c.11375T>C c.(11374-11376)ATG>ACG p.M3792T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3793 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTCCTTGCCATTGCAGCTGG 0.507 NA 45 65 0 0 0.01441 0 0 ZNF560 147741 broad.mit.edu 37 19 9580363 9580363 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9580363G>T uc002mlp.1 - 8 682 c.472C>A c.(472-474)CTG>ATG p.L158M ZNF560_uc010dwr.1_Missense_Mutation_p.L52M NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 158 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CAAGAGATCAGACTGGGTTTG 0.473 NA 11 26 1.5842e-08 1.96404e-08 0.001855 1 0 CHST8 64377 broad.mit.edu 37 19 34263626 34263626 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:34263626C>T uc002nus.3 + 5 1438 c.933C>T c.(931-933)TTC>TTT p.F311F CHST8_uc002nut.3_Silent_p.F311F|CHST8_uc002nuu.2_Silent_p.F311F NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 311 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) TTCCCGAGTTCGTCCAGTACC 0.652 NA 5 47 0 0 0.001168 0 0 ZNF585A 199704 broad.mit.edu 37 19 37646813 37646813 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:37646813C>T uc002ofo.1 - 4 477 c.246G>A c.(244-246)AAG>AAA p.K82K ZNF585A_uc002ofm.1_Silent_p.K27K|ZNF585A_uc002ofn.1_Silent_p.K27K NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 82 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCATGGTTCCTTTCCTTGCT 0.527 NA 20 66 0 0 0.00278 0 0 FCGBP 8857 broad.mit.edu 37 19 40357618 40357618 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:40357618C>T uc002omp.3 - 34 15703 c.15695G>A c.(15694-15696)CGT>CAT p.R5232H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5232 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACAGAGACCACGGGTGGCCCA 0.627 NA 3 63 0 0 0.004672 0 0 ZNF235 9310 broad.mit.edu 37 19 44792290 44792290 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:44792290C>T uc002oza.3 - 5 1401 c.1298G>A c.(1297-1299)TGT>TAT p.C433Y ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.C429Y|ZNF235_uc010xwx.1_Missense_Mutation_p.C347Y NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 433 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) ACAATCCCCACATTTATATGG 0.418 NA 18 58 0 0 0.007413 0 0 CPT1C 126129 broad.mit.edu 37 19 50208359 50208359 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:50208359G>T uc002ppj.2 + 8 1072 c.867G>T c.(865-867)CAG>CAT p.Q289H CPT1C_uc002ppl.3_Missense_Mutation_p.Q255H|CPT1C_uc002ppi.2_Missense_Mutation_p.Q206H|CPT1C_uc002ppk.2_Missense_Mutation_p.Q278H|CPT1C_uc010eng.2_Missense_Mutation_p.Q289H|CPT1C_uc010enh.2_Missense_Mutation_p.Q289H|CPT1C_uc010ybc.1_Missense_Mutation_p.Q127H|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 289 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TGAACCGCCAGGAGATACCCC 0.662 NA 17 55 1.78486e-19 2.72224e-19 0.007413 1 0 SIGLEC6 946 broad.mit.edu 37 19 52033113 52033113 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:52033113G>T uc002pwy.2 - 5 1039 c.877C>A c.(877-879)CTG>ATG p.L293M SIGLEC6_uc002pwz.2_Missense_Mutation_p.L277M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.L293M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.L230M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.L293M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.L271M|SIGLEC6_uc010epb.1_Missense_Mutation_p.L246M|SIGLEC6_uc010epa.1_Missense_Mutation_p.L282M NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 293 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGGCGTTCAGGGCGGGGAAG 0.642 NA 19 63 3.08376e-08 3.77895e-08 0.00333 1 0 ZNF331 55422 broad.mit.edu 37 19 54080559 54080559 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:54080559G>A uc002qbx.1 + 7 2179 c.745G>A c.(745-747)GGG>AGG p.G249R ZNF331_uc002qby.1_Missense_Mutation_p.G249R|ZNF331_uc002qbz.1_Missense_Mutation_p.G249R|ZNF331_uc002qca.1_Missense_Mutation_p.G249R|ZNF331_uc010eqr.1_Missense_Mutation_p.G249R|ZNF331_uc002qcb.1_Missense_Mutation_p.G249R|ZNF331_uc002qcc.1_Missense_Mutation_p.G249R|ZNF331_uc002qcd.1_Missense_Mutation_p.G249R NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 249 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) CAAAGACTGTGGGAAGACCTT 0.458 NA T ? follicular thyroid adenoma 25 56 0 0 0.007291 0 0 ALK 238 broad.mit.edu 37 2 29543738 29543738 + Silent SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:29543738A>T uc002rmy.2 - 7 2332 c.1425T>A c.(1423-1425)CCT>CCA p.P475P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 475 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AAAAACCCACAGGCAGTTTCC 0.502 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 11 74 0 0 0.013537 0 0 VRK2 7444 broad.mit.edu 37 2 58313494 58313494 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:58313494A>G uc002rzo.2 + 8 1022 c.277A>G c.(277-279)AAA>GAA p.K93E VRK2_uc010fcb.2_Missense_Mutation_p.K93E|VRK2_uc002rzs.2_Missense_Mutation_p.K93E|VRK2_uc002rzr.2_Missense_Mutation_p.K93E|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Missense_Mutation_p.K93E|VRK2_uc010fcd.2_Missense_Mutation_p.K70E|VRK2_uc002rzp.2_Missense_Mutation_p.K93E|VRK2_uc010ypg.1_Missense_Mutation_p.K93E|VRK2_uc002rzq.2_Missense_Mutation_p.K93E|VRK2_uc002rzu.2_Missense_Mutation_p.K93E|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'UTR NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 93 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 GATAGAACGCAAACAACTTGA 0.274 NA 15 90 0 0 0.00499 0 0 GPR45 11250 broad.mit.edu 37 2 105858376 105858376 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:105858376G>A uc002tco.1 + 1 177 c.61G>A c.(61-63)GCC>ACC p.A21T NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 21 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CACCAGCAACGCCTCAGACTC 0.602 NA 39 83 0 0 0.01441 0 0 THSD7B 80731 broad.mit.edu 37 2 137814416 137814416 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:137814416C>A uc002tva.1 + 2 473 c.473C>A c.(472-474)TCC>TAC p.S158Y THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S48Y NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTACCATGGTCCAACTGTAGC 0.488 NA 71 228 1.91593e-42 3.10059e-42 0.01441 1 0 CCDC148 130940 broad.mit.edu 37 2 159196795 159196795 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:159196795G>A uc002tzq.2 - 5 708 c.445C>T c.(445-447)CAC>TAC p.H149Y CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.H96Y|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.H63Y|CCDC148_uc002tzs.1_Missense_Mutation_p.H149Y NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 149 ovary(2) 2 ATATGTGGGTGTGAATGCTGC 0.338 NA 3 88 0 0 0.004672 0 0 BAZ2B 29994 broad.mit.edu 37 2 160241699 160241699 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:160241699A>T uc002uao.2 - 23 4005 c.3653T>A c.(3652-3654)ATC>AAC p.I1218N BAZ2B_uc002uap.2_Missense_Mutation_p.I1182N NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CAGTTCATTGATCAGGAAAGC 0.418 NA 18 133 0 0 0.00278 0 0 G6PC2 57818 broad.mit.edu 37 2 169764282 169764282 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:169764282C>T uc002uem.2 + 5 853 c.761C>T c.(760-762)ACG>ATG p.T254M G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.T138M NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 254 Lumenal (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 ATTGACACCACGCCTTTTGCT 0.522 NA 17 46 0 0 0.004007 0 0 DLX1 1745 broad.mit.edu 37 2 172951500 172951500 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:172951500C>T uc002uhl.2 + 2 630 c.432C>T c.(430-432)AAC>AAT p.N144N DLX1_uc010fqj.1_Silent_p.N144N|DLX1_uc002uhm.2_Intron NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 144 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGGCTTTGAACCGGAGGTTCC 0.572 NA 52 152 0 0 0.01441 0 0 TTN 7273 broad.mit.edu 37 2 179667046 179667046 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:179667046G>A uc002und.2 - 3 339 c.114C>T c.(112-114)AGC>AGT p.S38S TTN_uc010zfg.1_Silent_p.S38S|TTN_uc010zfh.1_Silent_p.S38S|TTN_uc010zfi.1_Silent_p.S38S|TTN_uc010zfj.1_Silent_p.S38S|TTN_uc002unb.2_Silent_p.S38S Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 38 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) CCCTAAACCAGCTCACCTCAG 0.522 NA 4 11 0 0 0.009096 0 0 PDE1A 5136 broad.mit.edu 37 2 183387015 183387015 + Missense_Mutation SNP C C A rs137961386 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:183387015C>A uc002uos.2 - 2 173 c.89G>T c.(88-90)CGC>CTC p.R30L PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R30L|PDE1A_uc010zfq.1_Missense_Mutation_p.R30L|PDE1A_uc002uov.1_RNA NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 30 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCCTTTCAGGCGCTGCCACAT 0.418 NA 7 34 0.000157383 0.000176536 0.00308 1 0 ATG16L1 55054 broad.mit.edu 37 2 234178672 234178672 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:234178672A>T uc002vty.2 + 6 923 c.666A>T c.(664-666)AAA>AAT p.K222N ATG16L1_uc002vtx.1_Missense_Mutation_p.K78N|ATG16L1_uc002vua.2_Missense_Mutation_p.K222N|ATG16L1_uc002vub.2_Missense_Mutation_p.K99N|ATG16L1_uc002vtz.2_Missense_Mutation_p.K78N|ATG16L1_uc002vud.3_Missense_Mutation_p.K138N NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 222 Potential. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GGCTGCAGAAAGAGCTTGCAG 0.428 NA 19 40 0 0 0.012319 0 0 TMEM90B 79953 broad.mit.edu 37 20 24524042 24524042 + Silent SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:24524042G>C uc002wtw.1 + 2 942 c.309G>C c.(307-309)GGG>GGC p.G103G NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 103 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 GCTCCTGGGGGGACGGTGTGG 0.632 NA 22 84 0 0 0.003954 0 0 NFATC2 4773 broad.mit.edu 37 20 50139803 50139803 + Missense_Mutation SNP C C A rs145325613 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:50139803C>A uc002xwd.2 - 2 1197 c.977G>T c.(976-978)AGC>ATC p.S326I NFATC2_uc002xwc.2_Missense_Mutation_p.S326I|NFATC2_uc010zyv.1_Missense_Mutation_p.S107I|NFATC2_uc010zyw.1_Missense_Mutation_p.S107I|NFATC2_uc010zyx.1_Missense_Mutation_p.S306I|NFATC2_uc010zyy.1_Missense_Mutation_p.S107I|NFATC2_uc010zyz.1_Missense_Mutation_p.S107I|NFATC2_uc002xwe.2_Missense_Mutation_p.S306I NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 326 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GGGGTCAGGGCTGGTCTTCCA 0.692 NA 17 37 5.03518e-11 6.67162e-11 0.007413 1 0 CSTF1 1477 broad.mit.edu 37 20 54972262 54972262 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:54972262G>T uc002xxl.1 + 3 370 c.170_splice c.e3-1 p.G57_splice CSTF1_uc002xxm.1_Splice_Site_p.G57_splice|CSTF1_uc002xxn.1_Splice_Site_p.G57_splice|CSTF1_uc002xxo.1_Splice_Site NM_001033521 NP_001028693 Q05048 CSTF1_HUMAN cleavage stimulation factor subunit 1 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(1) 1 Colorectal(105;0.202) ATTTCTTTCAGGAATGGAAAA 0.403 NA 18 43 3.51602e-12 4.809e-12 0.008871 1 0 DIDO1 11083 broad.mit.edu 37 20 61511164 61511164 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:61511164G>A uc002ydr.1 - 16 6408 c.6144C>T c.(6142-6144)TCC>TCT p.S2048S DIDO1_uc002yds.1_Silent_p.S2048S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 2048 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AGGAGAGCGCGGAGGGCGGCC 0.721 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 19 43 0 0 0.007413 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119349 32119349 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr21:32119349C>A uc011adh.1 - 1 172 c.172G>T c.(172-174)GGA>TGA p.G58* NM_181617 NP_853648 Q3LI59 KR212_HUMAN keratin associated protein 21-2 58 intermediate filament 0 cagccatatccacagccagag 0.199 NA 18 52 1.33834e-09 1.7092e-09 0.007413 1 0 MN1 4330 broad.mit.edu 37 22 28194031 28194031 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr22:28194031T>C uc003adj.2 - 1 3456 c.2501A>G c.(2500-2502)AAC>AGC p.N834S NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 834 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GGCGATCATGTTCTGGCAAGC 0.617 NA T ETV6 AML|meningioma 33 83 0 0 0.003271 0 0 RASD2 23551 broad.mit.edu 37 22 35943106 35943106 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr22:35943106C>A uc003anx.2 + 2 455 c.250C>A c.(250-252)CGC>AGC p.R84S RASD2_uc003any.2_Missense_Mutation_p.R84S NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 84 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 CCCCGCCATGCGCAGGCTGTC 0.637 NA 24 66 1.836e-18 2.76051e-18 0.003755 1 0 ULK4 54986 broad.mit.edu 37 3 41953070 41953070 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:41953070G>T uc003ckv.3 - 10 1179 c.978C>A c.(976-978)CAC>CAA p.H326Q ULK4_uc003ckw.2_Missense_Mutation_p.H326Q|ULK4_uc003ckx.1_Missense_Mutation_p.H326Q NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 326 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) GACCACTCTTGTGCCCTTTTG 0.408 NA 5 34 3.59834e-05 4.14591e-05 0.001168 1 0 RNF123 63891 broad.mit.edu 37 3 49758482 49758482 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:49758482C>G uc003cxh.2 + 38 3854 c.3768C>G c.(3766-3768)ATC>ATG p.I1256M RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1256 RING-type. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TCTGCCCCATCTGCTATGCCC 0.607 NA 5 67 0 0 0.001168 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64587701 64587701 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:64587701C>G uc003dmg.2 - 26 3968 c.3936G>C c.(3934-3936)GAG>GAC p.E1312D ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1284D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1141D|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E223D NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1312 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GACGATAGTCCTCATTTTGGA 0.572 NA 44 69 0 0 0.013114 0 0 PLA1A 51365 broad.mit.edu 37 3 119347694 119347694 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:119347694T>C uc003ecu.2 + 10 1307 c.1268T>C c.(1267-1269)CTT>CCT p.L423P PLA1A_uc003ecv.2_Missense_Mutation_p.L407P|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.L250P NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 423 Involved in the recognition of diacyl- phospholipids. lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TGCACTGCCCTTTTGCCTGTC 0.458 NA 3 113 0 0 0.009096 0 0 UROC1 131669 broad.mit.edu 37 3 126219611 126219611 + Nonsense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:126219611G>A uc003eiz.1 - 11 1104 c.1072C>T c.(1072-1074)CAG>TAG p.Q358* UROC1_uc010hsi.1_Nonsense_Mutation_p.Q418* NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 358 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) AAGCTGAGCTGCACAGGGTAG 0.602 NA 14 98 0 0 0.001855 0 0 SR140 23350 broad.mit.edu 37 3 142769829 142769829 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:142769829A>T uc003evh.1 + 25 2692 c.2593A>T c.(2593-2595)AAA>TAA p.K865* SR140_uc003evi.1_Nonsense_Mutation_p.K456*|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Nonsense_Mutation_p.K864*|SR140_uc003evl.1_Nonsense_Mutation_p.K432* NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 865 Potential.|Glu-rich. RNA processing nucleus nucleotide binding|RNA binding 0 GAAAAGACCTAAAAAACCAGG 0.318 Colon(87;897 1320 15089 19747 35974) NA 5 17 0 0 0.001168 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:170198095G>A uc003fgz.2 - 7 2292 c.1976C>T c.(1975-1977)GCG>GTG p.A659V CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 659 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498 NA 3 100 0 0 0.009096 0 0 MFN1 55669 broad.mit.edu 37 3 179085233 179085233 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:179085233A>T uc003fjs.2 + 8 886 c.760A>T c.(760-762)AGA>TGA p.R254* MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Nonsense_Mutation_p.R282*|MFN1_uc010hxc.2_Nonsense_Mutation_p.R107* NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 254 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GTAGGTACGCAGACAGCACAT 0.348 NA 5 40 0 0 0.000602 0 0 ECE2 9718 broad.mit.edu 37 3 183995734 183995734 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:183995734G>T uc003fni.3 + 5 892 c.854G>T c.(853-855)AGC>ATC p.S285I ECE2_uc011brg.1_Missense_Mutation_p.S213I|ECE2_uc011brh.1_Missense_Mutation_p.S138I|ECE2_uc003fnl.3_Missense_Mutation_p.S213I|ECE2_uc003fnm.3_Missense_Mutation_p.S167I|ECE2_uc003fnk.3_Missense_Mutation_p.S138I|ECE2_uc011bri.1_Missense_Mutation_p.S200I|ECE2_uc010hxv.2_5'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 285 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCAACTCCAGCAGTGAAGCT 0.557 NA 27 66 1.12875e-08 1.40762e-08 0.00632 1 0 CTBP1 1487 broad.mit.edu 37 4 1206184 1206184 + Silent SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:1206184G>C uc003gcv.1 - 9 1332 c.1167C>G c.(1165-1167)GCC>GCG p.A389A uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.A370A|CTBP1_uc003gcu.1_Silent_p.A378A|CTBP1_uc003gcw.2_Silent_p.A64A NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 389 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) TGCCAGTGGGGGCCACGCCCA 0.716 NA 5 7 0 0 0.001168 0 0 MAEA 10296 broad.mit.edu 37 4 1321485 1321485 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:1321485C>G uc003gda.2 + 5 680 c.650C>G c.(649-651)GCT>GGT p.A217G MAEA_uc010ibs.1_Missense_Mutation_p.A176G|MAEA_uc003gdb.2_Missense_Mutation_p.A176G|MAEA_uc011bvb.1_Missense_Mutation_p.A149G|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.A216G|MAEA_uc011bvd.1_Missense_Mutation_p.A169G|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_5'Flank NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher isoform 1 217 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0201) AGACTGGACGCTGTGAGGTAG 0.572 NA 13 26 0 0 0.00245 0 0 FGFR3 2261 broad.mit.edu 37 4 1808905 1808905 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:1808905C>G uc003gdr.3 + 18 2593 c.2337C>G c.(2335-2337)AGC>AGG p.S779R FGFR3_uc003gdu.2_Missense_Mutation_p.S781R|FGFR3_uc003gds.3_Missense_Mutation_p.S667R|FGFR3_uc003gdq.3_Missense_Mutation_p.L757V NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 779 Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACACCCCCAGCTCCAGCTCCT 0.716 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 2 11 0 0 0.004672 0 0 AMBN 258 broad.mit.edu 37 4 71468534 71468534 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:71468534C>A uc003hfl.2 + 8 665 c.590C>A c.(589-591)CCT>CAT p.P197H NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 197 1. bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) ATGGATTTTCCTGATCCACAA 0.204 NA 10 25 0.000151284 0.000170597 0.001855 1 0 FAT4 79633 broad.mit.edu 37 4 126373318 126373318 + Missense_Mutation SNP G G T rs139635339 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:126373318G>T uc003ifj.3 + 9 11147 c.11147G>T c.(11146-11148)CGT>CTT p.R3716L FAT4_uc011cgp.1_Missense_Mutation_p.R2014L|FAT4_uc003ifi.1_Missense_Mutation_p.R1194L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3716 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATCTTACTTCGTCTCGGCGTA 0.468 NA 29 81 1.06647e-15 1.54858e-15 0.003755 1 0 RXFP1 59350 broad.mit.edu 37 4 159493897 159493897 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:159493897C>A uc003ipz.2 + 2 179 c.97C>A c.(97-99)CCC>ACC p.P33T RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.P33T|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.P33T|RXFP1_uc010iqm.2_Missense_Mutation_p.P33T|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 33 Extracellular (Potential).|LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGGCTATTTCCCCTGTGGGAA 0.517 NA 30 68 2.61193e-14 3.74142e-14 0.009535 1 0 TRIML1 339976 broad.mit.edu 37 4 189061712 189061712 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:189061712C>T uc003izm.1 + 2 554 c.439C>T c.(439-441)CGT>TGT p.R147C NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 147 Potential. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAATCTTTTGCGTGTAAGGAG 0.473 Melanoma(31;213 1036 16579 23968 32372) NA 8 51 0 0 0.006214 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803124 140803124 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:140803124G>T uc003lkq.1 + 1 2588 c.2330G>T c.(2329-2331)GGG>GTG p.G777V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G777V|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 777 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACTATGGGGACACGCTC 0.517 NA 43 91 2.34695e-46 3.82734e-46 0.01441 1 0 ZNF300 91975 broad.mit.edu 37 5 150276251 150276251 + Missense_Mutation SNP A A C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:150276251A>C uc003lsy.1 - 6 817 c.550T>G c.(550-552)TTC>GTC p.F184V IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TATTTATGGAATCTCTGTATT 0.328 NA 15 48 0 0 0.00245 0 0 SQSTM1 8878 broad.mit.edu 37 5 179251243 179251243 + Nonsense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:179251243G>A uc003mkw.3 + 4 688 c.593G>A c.(592-594)TGG>TAG p.W198* SQSTM1_uc011dgr.1_Nonsense_Mutation_p.W114*|SQSTM1_uc011dgs.1_Nonsense_Mutation_p.W114*|SQSTM1_uc003mkv.3_Nonsense_Mutation_p.W198*|SQSTM1_uc003mkx.2_Nonsense_Mutation_p.W114* NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 198 Interaction with GABRR3 (By similarity).|LIM protein-binding (LB). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCCAGGATGGGAAATGGGT 0.652 NA Paget_Disease_of_Bone 11 48 0 0 0.013537 0 0 AGER 177 broad.mit.edu 37 6 32150671 32150671 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:32150671C>A uc003oal.1 - 6 662 c.638G>T c.(637-639)GGC>GTC p.G213V AGER_uc003oak.1_5'UTR|AGER_uc003oar.2_Missense_Mutation_p.G112V|AGER_uc011dpm.1_Missense_Mutation_p.G112V|AGER_uc011dpn.1_Missense_Mutation_p.G112V|AGER_uc010jtv.1_Missense_Mutation_p.G213V|AGER_uc011dpo.1_Missense_Mutation_p.G126V|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.G199V|AGER_uc003oap.1_Missense_Mutation_p.G229V|AGER_uc003oat.1_Missense_Mutation_p.G229V|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.G199V|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.G213V|AGER_uc003oau.1_Missense_Mutation_p.G213V|AGER_uc011dpp.1_Missense_Mutation_p.G213V|AGER_uc011dpq.1_Missense_Mutation_p.G229V NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 213 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 TCGGGGAAGGCCTGGGCTGAA 0.662 NA 3 103 0.004672 0.00505339 0.004672 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113507 55113507 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:55113507G>A uc003pcl.2 + 2 609 c.294G>A c.(292-294)CTG>CTA p.L98L HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.L33L NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 98 Helical; Name=2; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATCTTTCTCTGGCTGATGTGC 0.458 NA 41 133 0 0 0.009718 0 0 FYN 2534 broad.mit.edu 37 6 112035607 112035607 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:112035607C>T uc003pvj.2 - 4 627 c.287G>A c.(286-288)CGG>CAG p.R96Q FYN_uc003pvi.2_Missense_Mutation_p.R96Q|FYN_uc003pvk.2_Missense_Mutation_p.R96Q|FYN_uc003pvh.2_Missense_Mutation_p.R96Q NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 96 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ATCTTCTGTCCGTGCTTCATA 0.403 NA 9 52 0 0 0.010729 0 0 LAMA2 3908 broad.mit.edu 37 6 129637037 129637038 + Missense_Mutation DNP GG GG AT TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:129637037_129637038GG>AT uc003qbn.2 + 26 3971_3972 c.3866_3867GG>AT c.(3865-3867)AGG>AAT p.R1289N LAMA2_uc003qbo.2_Missense_Mutation_p.R1289N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1289 Laminin IV type A 2. 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) ATTATCGTCAGGCATATGGCTG 0.421 NA 21 49 0 0 0.004672 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596725 136596725 + Silent SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:136596725T>C uc003qgx.1 - 6 2050 c.1797A>G c.(1795-1797)AAA>AAG p.K599K BCLAF1_uc003qgw.1_Silent_p.K426K|BCLAF1_uc003qgy.1_Silent_p.K597K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K597K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 599 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTGAAGTGCTTTTGCTGGCCT 0.393 Colon(142;1534 1789 5427 7063 28491) NA 9 104 0 0 0.00245 0 0 C6orf72 116254 broad.mit.edu 37 6 149893739 149893739 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:149893739G>T uc003qmq.1 + 3 304 c.277G>T c.(277-279)GTG>TTG p.V93L C6orf72_uc010kie.1_Intron NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 93 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) GACTTTGATAGGTGAGTATTA 0.259 NA 11 17 2.27111e-07 2.68981e-07 0.013537 1 0 CARD11 84433 broad.mit.edu 37 7 2983872 2983872 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:2983872T>A uc003smv.2 - 5 1062 c.658A>T c.(658-660)ATG>TTG p.M220L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 220 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGCTCCTCATGACCGCCATG 0.582 NA Mis DLBCL 8 40 0 0 0.004482 0 0 COL28A1 340267 broad.mit.edu 37 7 7476096 7476096 + Splice_Site SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:7476096T>C uc003src.1 - 23 1909 c.1792_splice c.e23-1 p.G598_splice COL28A1_uc011jxe.1_Splice_Site_p.G281_splice|COL28A1_uc003srd.2_Splice_Site_p.G153_splice|COL28A1_uc003sre.1_Splice_Site_p.G19_splice NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCTATCTCCCTGTACATTTCA 0.398 NA 23 38 0 0 0.005443 0 0 LANCL2 55915 broad.mit.edu 37 7 55468954 55468954 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:55468954C>T uc003tqp.2 + 5 1344 c.766C>T c.(766-768)CGG>TGG p.R256W NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 256 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CCAGTGGCACCGGAAGCAGTA 0.438 NA 16 101 0 0 0.006122 0 0 ZNF716 441234 broad.mit.edu 37 7 57529215 57529215 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:57529215A>T uc011kdi.1 + 4 1160 c.1048A>T c.(1048-1050)AAA>TAA p.K350* NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 TACTGGGGAGAAACTCTACAC 0.398 NA 4 19 0 0 0.009096 0 0 AP1S1 1174 broad.mit.edu 37 7 100799899 100799899 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:100799899C>G uc003uxv.3 + 2 138 c.28C>G c.(28-30)CGG>GGG p.R10G NM_001283 NP_001274 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 10 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) ATTATTCAGCCGGCAGGGAAA 0.527 NA 8 13 0 0 0.010729 0 0 CAV2 858 broad.mit.edu 37 7 116146056 116146056 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:116146056A>T uc003vid.2 + 3 762 c.370A>T c.(370-372)ATG>TTG p.M124L CAV2_uc003vhv.2_RNA|CAV2_uc003vhw.2_RNA|CAV2_uc003vhx.2_RNA|CAV2_uc010lkb.1_RNA|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_RNA|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_5'UTR|CAV1_uc010lke.1_5'UTR|CAV2_uc003vie.2_Missense_Mutation_p.N61I NM_001233 NP_001224 P51636 CAV2_HUMAN caveolin 2 isoform a and b 124 Cytoplasmic (Potential). caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity 0 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) GACCTGCCTAATGGTTCTGCC 0.433 NA 10 44 0 0 0.006214 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652317 121652317 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:121652317A>T uc003vjy.2 + 12 3612 c.3217A>T c.(3217-3219)AAC>TAC p.N1073Y PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1073 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AGTCATGCCCAACATGTATGA 0.393 NA 16 51 0 0 0.006122 0 0 GRM8 2918 broad.mit.edu 37 7 126173883 126173883 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:126173883A>T uc003vlr.2 - 8 1864 c.1553T>A c.(1552-1554)CTG>CAG p.L518Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L518Q|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 518 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTACACGGCAGGCTGCAGAC 0.522 NA HNSCC(24;0.065) 13 93 0 0 0.001855 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216666 134216666 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:134216666C>T uc003vrr.2 + 3 561 c.241C>T c.(241-243)CCC>TCC p.P81S NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 81 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 GCAGTTGTGGCCCACTTTCTT 0.458 NA 12 54 0 0 0.013537 0 0 MGAM 8972 broad.mit.edu 37 7 141803165 141803165 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:141803165C>T uc003vwy.2 + 47 5476 c.5422C>T c.(5422-5424)CCC>TCC p.P1808S NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1808 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGGCAGTGTCCCCGTTACCAG 0.453 NA 3 18 0 0 0.004672 0 0 ZYX 7791 broad.mit.edu 37 7 143079991 143079991 + Missense_Mutation SNP G G T rs150223874 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:143079991G>T uc003wcw.2 + 5 754 c.599G>T c.(598-600)TGG>TTG p.W200L ZYX_uc011ktd.1_Missense_Mutation_p.W43L|ZYX_uc003wcx.2_Missense_Mutation_p.W200L|ZYX_uc011kte.1_Missense_Mutation_p.W169L|ZYX_uc011ktf.1_Missense_Mutation_p.W43L NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 200 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CTGCCTCCTTGGAAGTCCCCT 0.537 NA 11 64 0.00829132 0.0087888 0.008291 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147675028 147675028 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:147675028G>T uc003weu.1 + 15 2846 c.2330G>T c.(2329-2331)CGT>CTT p.R777L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 777 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GATACTGACCGTCAAGGCTCA 0.473 NA HNSCC(39;0.1) 3 60 6.4e-05 7.25721e-05 0.004672 1 0 SSPO 23145 broad.mit.edu 37 7 149525062 149525062 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:149525062G>T uc010lpk.2 + 107 14970 c.14970G>T c.(14968-14970)GGG>GGT p.G4990G SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4990 VWFC 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCACCTTGGGCGTCCCCACC 0.672 NA 5 34 2.7689e-08 3.41283e-08 0.001984 1 0 SOX7 83595 broad.mit.edu 37 8 10583375 10583376 + Missense_Mutation DNP CC CC AA TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:10583375_10583376CC>AA uc003wtf.2 - 2 1118_1119 c.1039_1040GG>TT c.(1039-1041)GGG>TTG p.G347L SOX7_uc011kwz.1_Missense_Mutation_p.G399L NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 347 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGCCATGGCCCCTGTGGCGGAG 0.619 NA 6 45 0 0 0.004672 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885446 88885446 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:88885446C>T uc003ydz.2 - 1 851 c.754G>A c.(754-756)GAT>AAT p.D252N NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 252 ovary(1) 1 CAGCGCAGATCAATGCCAAAG 0.507 NA 12 151 0 0 0.00245 0 0 CSMD3 114788 broad.mit.edu 37 8 113237134 113237134 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:113237134C>A uc003ynu.2 - 71 11149 c.10990G>T c.(10990-10992)GGA>TGA p.G3664* CSMD3_uc003yns.2_Nonsense_Mutation_p.G2866*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3624*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3495* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3664 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTGAACATCCTGTATACTGT 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 191 1.52009e-12 2.10627e-12 0.003163 1 0 TRPS1 7227 broad.mit.edu 37 8 116599521 116599521 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:116599521G>A uc003ynz.2 - 4 2827 c.2368C>T c.(2368-2370)CGC>TGC p.R790C TRPS1_uc011lhy.1_Missense_Mutation_p.R794C|TRPS1_uc003yny.2_Missense_Mutation_p.R803C|TRPS1_uc010mcy.2_Missense_Mutation_p.R790C NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 790 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTCACATTGCGAAGGTCATCA 0.567 NA Langer-Giedion_syndrome 55 588 0 0 0.01441 0 0 TAF2 6873 broad.mit.edu 37 8 120758944 120758944 + Splice_Site SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:120758944C>A uc003you.2 - 23 3378 c.3108_splice c.e23+1 p.P1036_splice NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTGATTCTTACAGGGTTCTGA 0.388 NA 92 94 1.41191e-52 2.32034e-52 0.01441 1 0 OC90 729330 broad.mit.edu 37 8 133053374 133053374 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:133053374T>A uc003ytg.2 - 4 326 c.326A>T c.(325-327)GAG>GTG p.E109V OC90_uc011lix.1_Missense_Mutation_p.E125V NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 125 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGCGGCCTCCTCATAGCACCT 0.567 NA 84 89 0 0 0.01441 0 0 JAK2 3717 broad.mit.edu 37 9 5080270 5080270 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:5080270G>T uc010mhm.2 + 16 2286 c.2173G>T c.(2173-2175)GAA>TAA p.E725* JAK2_uc003ziw.2_Nonsense_Mutation_p.E725* NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 725 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGAATGCATTGAAAATCCTAA 0.363 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 53 84 1.78197e-24 2.79835e-24 0.01441 1 0 PTPRD 5789 broad.mit.edu 37 9 8340408 8340408 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:8340408G>A uc003zkk.2 - 41 5899 c.5188C>T c.(5188-5190)CGG>TGG p.R1730W PTPRD_uc003zkp.2_Missense_Mutation_p.R1324W|PTPRD_uc003zkq.2_Missense_Mutation_p.R1323W|PTPRD_uc003zkr.2_Missense_Mutation_p.R1314W|PTPRD_uc003zks.2_Missense_Mutation_p.R1323W|PTPRD_uc003zkl.2_Missense_Mutation_p.R1721W|PTPRD_uc003zkm.2_Missense_Mutation_p.R1717W|PTPRD_uc003zkn.2_Missense_Mutation_p.R1319W|PTPRD_uc003zko.2_Missense_Mutation_p.R1320W NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1730 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CAGAGCATCCGCCAGAAGTCT 0.473 NA TSP Lung(15;0.13) 5 33 0 0 0.000602 0 0 INVS 27130 broad.mit.edu 37 9 102888823 102888823 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:102888823G>T uc004bap.1 + 3 477 c.265G>T c.(265-267)GCC>TCC p.A89S INVS_uc010mta.1_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Missense_Mutation_p.A89S|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 89 ANK 3. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) CCATCTTGCAGCCCAGAAGGT 0.428 NA 17 45 7.45023e-12 1.01247e-11 0.010504 1 0 C9orf91 203197 broad.mit.edu 37 9 117400932 117400932 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:117400932G>T uc004bjd.3 + 8 992 c.775G>T c.(775-777)GGC>TGC p.G259C C9orf91_uc004bje.3_Missense_Mutation_p.G238C|C9orf91_uc004bjf.3_Missense_Mutation_p.G158C NM_153045 NP_694590 Q5VZI3 CI091_HUMAN hypothetical protein LOC203197 259 integral to membrane pancreas(1) 1 TCTCCTGCCCGGCAATTCTTG 0.577 NA 5 61 5.9392e-07 6.95641e-07 0.001168 1 0 INPP5E 56623 broad.mit.edu 37 9 139327515 139327515 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:139327515G>C uc004cho.2 - 5 1557 c.1172C>G c.(1171-1173)TCC>TGC p.S391C INPP5E_uc010nbm.2_Missense_Mutation_p.S391C NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 391 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGTCACCGTGGAGCACTCCAC 0.632 NA 17 33 0 0 0.008871 0 0 MXRA5 25878 broad.mit.edu 37 X 3228353 3228353 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:3228353G>T uc004crg.3 - 7 8048 c.7891C>A c.(7891-7893)CTG>ATG p.L2631M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2631 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCACCTTCAGGGAGACCAGC 0.622 NA 14 36 1.5739e-10 2.05967e-10 0.004007 1 0 MXRA5 25878 broad.mit.edu 37 X 3238388 3238388 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:3238388G>A uc004crg.3 - 5 5495 c.5338C>T c.(5338-5340)CTG>TTG p.L1780L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1780 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCAAAGTCCAGATGGAAGGTG 0.522 NA 11 33 0 0 0.001855 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069327 6069327 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:6069327G>T uc010ndh.2 - 2 682 c.181C>A c.(181-183)CCG>ACG p.P61T NLGN4X_uc004crp.2_Missense_Mutation_p.P61T|NLGN4X_uc004crq.2_Missense_Mutation_p.P61T|NLGN4X_uc010ndi.2_Missense_Mutation_p.P61T|NLGN4X_uc004crr.2_Missense_Mutation_p.P61T|NLGN4X_uc010ndj.2_Missense_Mutation_p.P61T NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 61 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TTGGGTAACGGTGTTCTTAGG 0.537 NA 7 92 2.0095e-06 2.34073e-06 0.001984 1 0 SYTL5 94122 broad.mit.edu 37 X 37969597 37969597 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:37969597G>A uc004ddu.2 + 14 1992 c.1458G>A c.(1456-1458)CTG>CTA p.L486L SYTL5_uc004ddv.2_Silent_p.L486L|SYTL5_uc004ddx.2_Silent_p.L508L NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 486 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 ATACCCAGCTGGAAACAAGAA 0.453 NA 13 62 0 0 0.001855 0 0 DUSP21 63904 broad.mit.edu 37 X 44703617 44703617 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:44703617G>A uc004dgd.2 + 1 369 c.239G>A c.(238-240)CGT>CAT p.R80H NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 80 Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity). cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 CGTGACTCGCGTCTCTACGAC 0.537 NA 15 124 0 0 0.00499 0 0 PHF16 9767 broad.mit.edu 37 X 46913915 46913915 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:46913915A>G uc004dgx.2 + 9 1379 c.1328A>G c.(1327-1329)AAT>AGT p.N443S PHF16_uc004dgy.2_Missense_Mutation_p.N443S NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 443 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 AGTAACTTCAATAAGCCATTA 0.453 NA 11 39 0 0 0.008291 0 0 GATA1 2623 broad.mit.edu 37 X 48652249 48652249 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:48652249G>T uc004dkq.3 + 6 1011 c.920G>T c.(919-921)CGC>CTC p.R307L NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 307 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 ACTCGAAACCGCAAGGCATCT 0.587 Pancreas(9;429 505 11287 29617) NA Mis|F megakaryoblastic leukemia of Downs Syndrome 3 13 0.00024832 0.000277073 0.009096 1 0 OPHN1 4983 broad.mit.edu 37 X 67426434 67426434 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:67426434T>A uc004dww.3 - 10 1208 c.914A>T c.(913-915)CAG>CTG p.Q305L OPHN1_uc011mpg.1_Missense_Mutation_p.Q305L NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 305 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 ACCTGGCTTCTGCTCCATAGG 0.408 NA 17 40 0 0 0.00499 0 0 TEX11 56159 broad.mit.edu 37 X 69825332 69825332 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:69825332C>A uc004dyl.2 - 25 2193 c.2031G>T c.(2029-2031)CTG>CTT p.L677L TEX11_uc004dyk.2_Silent_p.L352L|TEX11_uc004dym.2_Silent_p.L662L NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 677 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TCCGTGCAATCAGAATTACTT 0.388 NA 8 58 0.00307968 0.00334816 0.00308 1 0 ATP7A 538 broad.mit.edu 37 X 77298834 77298834 + Missense_Mutation SNP T T G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:77298834T>G uc004ecx.3 + 21 4185 c.4025T>G c.(4024-4026)GTG>GGG p.V1342G NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1342 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 CTGGATGTAGTGGCAAGTATT 0.338 NA 6 110 0 0 0.00308 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133872 91133872 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:91133872C>A uc004efk.1 + 2 3478 c.2633C>A c.(2632-2634)CCT>CAT p.P878H PCDH11X_uc004efl.1_Missense_Mutation_p.P878H|PCDH11X_uc004efo.1_Missense_Mutation_p.P878H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P878H|PCDH11X_uc004efm.1_Missense_Mutation_p.P878H|PCDH11X_uc004efn.1_Missense_Mutation_p.P878H|PCDH11X_uc004efh.1_Missense_Mutation_p.P878H|PCDH11X_uc004efj.1_Missense_Mutation_p.P878H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 878 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 aagCATTCCCCTAAGAACTTG 0.353 NSCLC(38;925 1092 2571 38200 45895) NA 14 35 1.05317e-09 1.35316e-09 0.00245 1 0 GPRASP1 9737 broad.mit.edu 37 X 101912229 101912229 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:101912229A>G uc004ejj.3 + 5 4189 c.3388A>G c.(3388-3390)AGG>GGG p.R1130G GPRASP1_uc004eji.3_Missense_Mutation_p.R1130G|GPRASP1_uc010nod.2_Missense_Mutation_p.R1130G NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1130 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AGAGCATCTTAGGGCCAAGGA 0.433 NA 7 112 0 0 0.00308 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960320 117960320 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:117960320G>T uc004equ.2 + 4 1586 c.1113G>T c.(1111-1113)GAG>GAT p.E371D NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 AGGTTTTTGAGAATTTGATCA 0.498 NA 11 49 0.000673444 0.000739742 0.008291 1 0 SH2D1A 4068 broad.mit.edu 37 X 123480601 123480601 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:123480601G>T uc004euf.3 + 1 454 c.109G>T c.(109-111)GTG>TTG p.V37L SH2D1A_uc004euh.3_Missense_Mutation_p.V37L|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 37 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 CAGCGAGAGCGTGCCAGGCGT 0.602 NA X-linked_Lymphoproliferative_syndrome 11 97 6.40141e-05 7.25721e-05 0.010729 1 0 FMR1 2332 broad.mit.edu 37 X 147027066 147027066 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:147027066A>T uc010nst.2 + 16 1856 c.1667A>T c.(1666-1668)CAC>CTC p.H556L FMR1_uc004fcj.2_Missense_Mutation_p.H533L|FMR1_uc004fck.3_Missense_Mutation_p.H510L|FMR1_uc004fcl.3_Missense_Mutation_p.H396L|FMR1_uc011mxa.1_Missense_Mutation_p.H203L NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 556 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AACGACGATCACTCCCGAACA 0.398 NA Fragile_X_syndrome 10 31 0 0 0.010729 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084782 147084782 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:147084782C>A uc004fcm.2 + 2 413 c.339C>A c.(337-339)GGC>GGA p.G113G NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 113 Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) ATGCTCATGGCCAATCTCTGG 0.363 NA 25 75 2.48779e-11 3.31706e-11 0.005443 1 0 MAGEA11 4110 broad.mit.edu 37 X 148798206 148798206 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:148798206G>T uc004fdq.2 + 5 1162 c.1060G>T c.(1060-1062)GAG>TAG p.E354* HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Nonsense_Mutation_p.E325* NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 354 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCTCTTTGGGGAGCCCAAGAG 0.542 NA 46 189 1.07234e-20 1.67159e-20 0.01441 1 0 MAMLD1 10046 broad.mit.edu 37 X 149631068 149631068 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:149631068G>T uc004fee.1 + 2 203 c.127G>T c.(127-129)GAT>TAT p.D43Y MAMLD1_uc011mxt.1_Missense_Mutation_p.D5Y|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 43 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAAGAAGATTTATCTTT 0.413 NA 12 46 1.45105e-14 2.09267e-14 0.006122 1 0 AVPR2 554 broad.mit.edu 37 X 153172004 153172004 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:153172004T>A uc004fjh.3 + 3 1009 c.938T>A c.(937-939)CTG>CAG p.L313Q AVPR2_uc004fjg.3_Missense_Mutation_p.L102Q|AVPR2_uc004fji.2_3'UTR NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 313 Helical; Name=7; (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CTCATGTTGCTGGCCAGCCTC 0.617 NA 58 244 0 0 0.01441 0 0 FLNA 2316 broad.mit.edu 37 X 153588368 153588368 + Silent SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:153588368A>G uc004fkk.2 - 22 4044 c.3795T>C c.(3793-3795)ATT>ATC p.I1265I FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.I1265I NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1265 Filamin 11. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGGCCCTCAATACCAGGCC 0.642 NA 7 60 0 0 0.00308 0 0 OR2M3 127062 broad.mit.edu 37 1 248366489 248366489 + Frame_Shift_Del DEL G G - rs143468114 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:248366489delG uc010pzg.1 + 1 120 c.120delG c.(118-120)ATGfs p.M40fs NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGCCTTCATGGGAAACTCTG 0.542 NA 53 326 --- --- --- --- NA NA NA NA NA CNTF 1270 broad.mit.edu 37 11 58391793 58391794 + Frame_Shift_Ins INS - - C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:58391793_58391794insC uc001nna.3 + 2 481_482 c.401_402insC c.(400-402)ATCfs p.I134fs ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 134 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GAATACAAGATCCCCCGCAATG 0.48 NA 12 44 --- --- --- --- NA NA NA NA NA ATM 472 broad.mit.edu 37 11 108128207 108128208 + Splice_Site INS - - T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:108128207_108128208insT uc001pkb.1 + 15 2636 c.2251_splice c.e15-1 p.S751_splice ATM_uc009yxr.1_Splice_Site_p.S751_splice NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATTCACAATAGTCTCTAATGCA 0.297 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 7 41 --- --- --- --- NA NA NA NA NA TBX3 6926 broad.mit.edu 37 12 115118942 115118942 + Frame_Shift_Del DEL A A - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:115118942delA uc001tvt.1 - 2 1363 c.399delT c.(397-399)TTTfs p.F133fs TBX3_uc001tvu.1_Frame_Shift_Del_p.F133fs|TBX3_uc010syw.1_Frame_Shift_Del_p.F133fs NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 133 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TAAATGGAGGAAACATTCGCC 0.328 NA 14 101 --- --- --- --- NA NA NA NA NA AATF 26574 broad.mit.edu 37 17 35378272 35378273 + Frame_Shift_Ins INS - - A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:35378272_35378273insA uc002hni.2 + 10 1757_1758 c.1506_1507insA c.(1504-1509)CACAAAfs p.H502fs AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 502_503 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) GCAAAATCCACAAAAAAGTAGA 0.361 NSCLC(49;901 1159 19183 41572 46244) NA 15 20 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1207090 1207091 + Frame_Shift_Ins INS - - A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:1207090_1207091insA uc002lrl.1 + 1 1293_1294 c.178_179insA c.(178-180)TACfs p.Y60fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 60 ATP (By similarity).|Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)|p.G56fs*4(1)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGGCTCTTACGGCAAGGTG 0.629 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 19 27 --- --- --- --- NA NA NA NA NA ARL4A 10124 broad.mit.edu 37 7 12727948 12727976 + Frame_Shift_Del DEL TGTTATTCTGGGTTTGGACTGTGCTGGAA TGTTATTCTGGGTTTGGACTGTGCTGGAA - rs144595174 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 TGTTATTCTGGGTTTGGACTGTGCTGGAA TGTTATTCTGGGTTTGGACTGTGCTGGAA - - TGTTATTCTGGGTTTGGACTGTGCTGGAA TGTTATTCTGGGTTTGGACTGTGCTGGAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA uc003ssp.2 + 2 346_374 c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA c.(67-99)ATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGfs p.I23fs ARL4A_uc003ssq.2_Frame_Shift_Del_p.I23fs|ARL4A_uc003ssr.2_Frame_Shift_Del_p.I23fs|ARL4A_uc003sss.2_Frame_Shift_Del_p.I23fs NM_001037164 NP_001032241 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 23_33 GTP (By similarity). small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) CTTTCCACATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGACAACTGT 0.406 NA 7 83 --- --- --- --- NA NA NA NA NA DOCK8 81704 broad.mit.edu 37 9 420560 420561 + Frame_Shift_Del DEL TG TG - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:420560_420561delTG uc003zgf.2 + 31 4112_4113 c.4000_4001delTG c.(4000-4002)TGTfs p.C1334fs DOCK8_uc010mgu.2_Frame_Shift_Del_p.C636fs|DOCK8_uc010mgv.2_Frame_Shift_Del_p.C1234fs|DOCK8_uc003zgk.2_Frame_Shift_Del_p.C792fs NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1334 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTTTTCATCTGTGTGTTATGT 0.411 NA 8 110 --- --- --- --- NA NA NA NA NA ADAMTSL1 92949 broad.mit.edu 37 9 18533290 18533290 + Frame_Shift_Del DEL G G - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:18533290delG uc003zne.3 + 3 364 c.237delG c.(235-237)GTGfs p.V79fs ADAMTSL1_uc003znb.2_Frame_Shift_Del_p.V79fs|ADAMTSL1_uc003znc.3_Frame_Shift_Del_p.V79fs NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 79 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GCAGTAATGTGGTAAGTATAA 0.333 NA 16 45 --- --- --- --- NA NA NA NA NA FOXO4 4303 broad.mit.edu 37 X 70320642 70320642 + Frame_Shift_Del DEL G G - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:70320642delG uc004dys.1 + 2 915 c.562delG c.(562-564)GGCfs p.G188fs FOXO4_uc010nkz.2_Frame_Shift_Del_p.G188fs|FOXO4_uc004dyt.1_Frame_Shift_Del_p.G133fs NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 188 Fork-head. cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) AGGCAAGAGCGGCAAAgcccc 0.522 NA OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 --- --- --- --- NA NA NA NA NA SLITRK2 84631 broad.mit.edu 37 X 144904859 144904859 + Frame_Shift_Del DEL A A - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:144904859delA uc004fcd.2 + 5 1906 c.916delA c.(916-918)AAAfs p.K306fs SLITRK2_uc010nsp.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.K306fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.K306fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.K306fs NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 306 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CCGGCCGCCCAAAATGAGAAA 0.552 NA 18 69 --- --- --- --- NA NA NA NA NA