Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut GNB1 2782 broad.mit.edu 37 1 1720641 1720641 + Missense_Mutation SNP C C T rs11554059 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:1720641C>T uc001aif.2 - 10 1099 c.767G>A c.(766-768)CGT>CAT p.R256H GNB1_uc009vky.2_Missense_Mutation_p.R156H NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 256 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) CTGGTCAGCACGAAGGTCAAA 0.522 NA OREG0012998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 30 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37271718 37271718 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:37271718G>A uc001caz.2 - 14 2436 c.2301C>T c.(2299-2301)ATC>ATT p.I767I GRIK3_uc001cba.1_Silent_p.I767I NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 767 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGGCGTGCCGATGCCGTAGC 0.662 NA 13 53 0 0 0 0 C1orf109 54955 broad.mit.edu 37 1 38152075 38152075 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:38152075C>T uc001cbp.2 - 3 515 c.325G>A c.(325-327)GTG>ATG p.V109M C1orf109_uc001cbn.2_5'Flank|C1orf109_uc010oig.1_Missense_Mutation_p.V172M|C1orf109_uc001cbo.2_Missense_Mutation_p.V171M|C1orf109_uc001cbq.1_Silent_p.E91E NM_017850 NP_060320 Q9NX04 CA109_HUMAN hypothetical protein LOC54955 109 0 Myeloproliferative disorder(586;0.0393) ATCTGAAACACTCGCTCCACA 0.498 NA 5 38 0 0 0 0 GLIS1 148979 broad.mit.edu 37 1 54060170 54060170 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:54060170G>A uc001cvr.1 - 3 973 c.406C>T c.(406-408)CTT>TTT p.L136F NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 136 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 CAGGCTTCAAGTTGCAAGCTG 0.667 NA 12 42 0 0 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999913 112999913 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:112999913C>T uc001ebx.2 + 6 2027 c.1799C>T c.(1798-1800)ACC>ATC p.T600I CTTNBP2NL_uc001ebz.2_RNA NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 600 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTCCATTGACCAAAACTCAT 0.522 NA 10 79 0 0 0 0 AQP10 89872 broad.mit.edu 37 1 154295468 154295468 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:154295468G>A uc001feu.2 + 3 283 c.243G>A c.(241-243)CTG>CTA p.L81L AQP10_uc001fev.2_Silent_p.L81L|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 81 Cytoplasmic (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGGCCCACCTGAATCCAGCCT 0.363 NA 25 74 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183085957 183085957 + Missense_Mutation SNP T T A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:183085957T>A uc001gpy.3 + 8 1740 c.1483T>A c.(1483-1485)TGC>AGC p.C495S NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 495 Laminin EGF-like 5; first part. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCACACCCTGCTTCTGCTT 0.388 NA 18 73 0 0 0 0 RGS21 431704 broad.mit.edu 37 1 192335209 192335209 + Silent SNP T T C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:192335209T>C uc001gsh.2 + 5 588 c.414T>C c.(412-414)AAT>AAC p.N138N NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 138 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 AACTGGTAAATAGCCAACAGG 0.333 NA 13 46 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414331 213414331 + Silent SNP A A C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr1:213414331A>C uc010ptr.1 + 11 1671 c.1512A>C c.(1510-1512)TCA>TCC p.S504S RPS6KC1_uc001hkd.2_Silent_p.S492S|RPS6KC1_uc010pts.1_Silent_p.S292S|RPS6KC1_uc010ptt.1_Silent_p.S292S|RPS6KC1_uc010ptu.1_Silent_p.S323S|RPS6KC1_uc010ptv.1_Silent_p.S39S|RPS6KC1_uc001hke.2_Silent_p.S323S NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 504 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GTTCAAGTTCAGAAGAAGAAT 0.408 NA 15 35 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33211200 33211200 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr10:33211200G>C uc001iws.3 - 9 1249 c.1113C>G c.(1111-1113)ATC>ATG p.I371M ITGB1_uc001iwp.3_Missense_Mutation_p.I371M|ITGB1_uc001iwq.3_Missense_Mutation_p.I371M|ITGB1_uc001iwr.3_Missense_Mutation_p.I371M|ITGB1_uc001iwt.3_Missense_Mutation_p.I371M|ITGB1_uc001iwu.1_Missense_Mutation_p.I371M NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 371 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) ATGCATCAATGATCAACTGAA 0.328 NA 19 79 0 0 0 0 ZNF33B 7582 broad.mit.edu 37 10 43090020 43090020 + Missense_Mutation SNP A A T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr10:43090020A>T uc001jaf.1 - 5 493 c.378T>A c.(376-378)TTT>TTA p.F126L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F14L|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 126 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGTCCATGTTAAATGGTATTC 0.348 NA 11 66 0 0 0 0 PHYHIPL 84457 broad.mit.edu 37 10 61005100 61005100 + Nonsense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr10:61005100G>T uc001jkk.3 + 5 1146 c.880G>T c.(880-882)GAA>TAA p.E294* PHYHIPL_uc001jkl.3_Nonsense_Mutation_p.E248*|PHYHIPL_uc001jkm.3_Nonsense_Mutation_p.E268* NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 294 0 ACCAGGAGATGAATTTTGTAA 0.403 NA 19 55 9.96e-16 5.46e-15 1 0 INPP5F 22876 broad.mit.edu 37 10 121582640 121582640 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr10:121582640G>C uc001leo.2 + 18 2256 c.2090G>C c.(2089-2091)AGA>ACA p.R697T INPP5F_uc001lep.2_Missense_Mutation_p.R87T NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 697 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTGCACTACAGATACAAAGAA 0.403 NA 3 58 0 0 0 0 OR51I2 390064 broad.mit.edu 37 11 5475541 5475541 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr11:5475541C>A uc010qzf.1 + 1 823 c.823C>A c.(823-825)CTC>ATC p.L275I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATACATGTCCTCATGTCAAA 0.473 NA 47 158 1.24e-20 6.83e-20 1 0 SLC1A2 6506 broad.mit.edu 37 11 35308365 35308365 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr11:35308365C>T uc001mwd.2 - 8 1817 c.1225G>A c.(1225-1227)GCC>ACC p.A409T SLC1A2_uc001mwe.2_Missense_Mutation_p.A400T|SLC1A2_uc010rev.1_Missense_Mutation_p.A409T NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 409 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) ATAAAGATGGCGGCTACCGCT 0.468 NA 17 141 0 0 0 0 OR5D18 219438 broad.mit.edu 37 11 55587492 55587492 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr11:55587492C>T uc010rin.1 + 1 387 c.387C>T c.(385-387)AAC>AAT p.N129N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CCATTTGCAACCCTCTGCTCT 0.478 NA 44 159 0 0 0 0 OR4D6 219983 broad.mit.edu 37 11 59225310 59225310 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr11:59225310G>A uc010rku.1 + 1 877 c.877G>A c.(877-879)GAG>AAG p.E293K NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGAAATCAAGAGATGAAGTC 0.522 NA 44 117 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120291479 120291479 + Missense_Mutation SNP G G A rs34754222 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr11:120291479G>A uc001pxl.1 + 5 224 c.217G>A c.(217-219)GTA>ATA p.V73I ARHGEF12_uc009zat.2_Missense_Mutation_p.V54I|ARHGEF12_uc010rzn.1_5'UTR|ARHGEF12_uc009zau.1_5'UTR NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 73 PDZ. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TCAGCGTTGCGTAATCATCCA 0.383 NA T MLL AML 23 48 0 0 0 0 ACRBP 84519 broad.mit.edu 37 12 6749669 6749669 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:6749669C>T uc001qpu.1 - 7 1145 c.1097G>A c.(1096-1098)CGG>CAG p.R366Q LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R333Q NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 366 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CATGTGTCGCCGCCCAAGGCT 0.637 NA 8 23 0 0 0 0 CLEC12B 387837 broad.mit.edu 37 12 10167883 10167883 + Nonsense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:10167883C>T uc001qwz.2 + 4 570 c.442C>T c.(442-444)CAA>TAA p.Q148* CLEC12B_uc001qwx.1_Nonsense_Mutation_p.Q148*|CLEC12B_uc001qwy.1_Nonsense_Mutation_p.Q45*|CLEC12B_uc009zhe.2_RNA NM_001129998 NP_001123470 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B isoform 148 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding 0 TAAGATGTGGCAATGGTACCA 0.388 NA 23 94 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15742441 15742441 + Missense_Mutation SNP C C T rs61757814 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:15742441C>T uc001rcv.1 + 25 3637 c.3463C>T c.(3463-3465)CAC>TAC p.H1155Y PTPRO_uc001rcw.1_Missense_Mutation_p.H1127Y|PTPRO_uc001rcx.1_Missense_Mutation_p.H344Y|PTPRO_uc001rcy.1_Missense_Mutation_p.H344Y|PTPRO_uc001rcz.1_Missense_Mutation_p.H316Y|PTPRO_uc001rda.1_Missense_Mutation_p.H316Y NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 1155 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GCTCTTGCAGCACATTCGGGA 0.463 NA 29 77 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 21981956 21981956 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:21981956G>A uc001rfi.1 - 29 3625 c.3605C>T c.(3604-3606)ACG>ATG p.T1202M ABCC9_uc001rfh.2_Missense_Mutation_p.T1202M|ABCC9_uc001rfj.1_Missense_Mutation_p.T1166M NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1202 Extracellular (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTTTGTATCCGTCAGTTCCAG 0.413 NA 19 95 0 0 0 0 DENND5B 160518 broad.mit.edu 37 12 31552693 31552693 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:31552693C>T uc001rki.1 - 16 3149 c.2963G>A c.(2962-2964)GGG>GAG p.G988E DENND5B_uc001rkh.1_Missense_Mutation_p.G1023E|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 988 PLAT. integral to membrane ovary(1)|central_nervous_system(1) 2 GGTCAGCTTCCCCAAGTTCTG 0.443 NA 5 33 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53671305 53671305 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:53671305G>A uc001sck.2 + 10 2228 c.2137G>A c.(2137-2139)GAA>AAA p.E713K ESPL1_uc001scj.2_Missense_Mutation_p.E388K|ESPL1_uc010soe.1_5'Flank NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 713 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GGAGGAATTTGAAGTCAATGA 0.433 NA 16 38 0 0 0 0 PDE1B 5153 broad.mit.edu 37 12 54968993 54968993 + Missense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:54968993C>G uc001sgd.1 + 11 1342 c.1176C>G c.(1174-1176)TTC>TTG p.F392L PDE1B_uc010soz.1_Missense_Mutation_p.F255L|PDE1B_uc010spa.1_Missense_Mutation_p.F351L|PDE1B_uc001sgf.2_Missense_Mutation_p.F255L|PDE1B_uc001sge.2_Missense_Mutation_p.F372L|PDE1B_uc009znq.2_Missense_Mutation_p.F188L NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 392 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGAGGAATTCTTCCGTCAGG 0.577 NA 27 85 0 0 0 0 CDK4 1019 broad.mit.edu 37 12 58143273 58143273 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:58143273C>T uc001spv.2 - 6 874 c.647G>A c.(646-648)GGA>GAA p.G216E CDK4_uc010ssb.1_Missense_Mutation_p.G96E|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 216 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TTCAGAGTTTCCACAGAAGAG 0.418 NA Mis melanoma Hereditary_Melanoma 6 29 0 0 0 0 SYT1 6857 broad.mit.edu 37 12 79685859 79685859 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr12:79685859G>T uc001sys.2 + 7 1094 c.423G>T c.(421-423)GAG>GAT p.E141D SYT1_uc001syt.2_Missense_Mutation_p.E141D|SYT1_uc001syu.2_Missense_Mutation_p.E138D|SYT1_uc001syv.2_Missense_Mutation_p.E141D NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 141 Cytoplasmic (Potential).|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 AAGAAGAGGAGAAACTGGGAA 0.368 NA 10 37 7.48e-07 3.85e-06 1 0 PSPC1 55269 broad.mit.edu 37 13 20325582 20325582 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr13:20325582C>A uc001uml.2 - 4 982 c.796G>T c.(796-798)GCT>TCT p.A266S PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 266 Sufficient for perinucleolar caps localization and interaction with NONO.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) CCAGGTTGAGCAAAACGTGGT 0.378 NA 12 41 0.000978159 0.00469724 1 0 ATP7B 540 broad.mit.edu 37 13 52542595 52542595 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr13:52542595G>A uc001vfw.2 - 4 1849 c.1692C>T c.(1690-1692)GGC>GGT p.G564G ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.G564G|ATP7B_uc001vfy.2_Silent_p.G453G|ATP7B_uc010tgt.1_Silent_p.G564G|ATP7B_uc010tgu.1_Silent_p.G564G|ATP7B_uc010tgv.1_Silent_p.G564G|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 564 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GCTCAATGTTGCCATCGGAGC 0.498 NA Wilson_disease 8 39 0 0 0 0 DACH1 1602 broad.mit.edu 37 13 72053410 72053410 + Silent SNP T T C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr13:72053410T>C uc010thn.1 - 9 2184 c.1761A>G c.(1759-1761)CAA>CAG p.Q587Q DACH1_uc010tho.1_Silent_p.Q439Q|DACH1_uc010thp.1_Silent_p.Q385Q NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 639 DACHbox-C.|Potential.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCTGTTTCTCTTGAGCTCTGG 0.373 NA 20 86 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23886750 23886750 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:23886750C>T uc001wjx.2 - 31 4421 c.4315G>A c.(4315-4317)GCT>ACT p.A1439T NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1439 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGGCTGCAGCAGCAGCATTG 0.602 NA 17 86 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30135410 30135410 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:30135410G>A uc001wqh.2 - 3 589 c.408C>T c.(406-408)TCC>TCT p.S136S NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 136 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CAAAGGTGGCGGAAGCTGTAA 0.403 NA 19 52 0 0 0 0 FBXO34 55030 broad.mit.edu 37 14 55818744 55818744 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:55818744G>C uc001xbu.2 + 2 1881 c.1636G>C c.(1636-1638)GAG>CAG p.E546Q FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.E546Q NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 546 ovary(2)|lung(2)|skin(1) 5 ACCAGTGCTTGAGGCATCCAG 0.507 NA 41 122 0 0 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68215205 68215205 + Nonsense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:68215205C>T uc001xka.2 - 42 7707 c.7568G>A c.(7567-7569)TGG>TAG p.W2523* ZFYVE26_uc010tsz.1_RNA NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2523 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) TGTCAGAAGCCACTGGGCACA 0.642 NA 4 64 0 0 0 0 CPSF2 53981 broad.mit.edu 37 14 92601740 92601740 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:92601740C>T uc001yah.1 + 6 682 c.445C>T c.(445-447)CTG>TTG p.L149L NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 149 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TATCACACCTCTGCCAGCTGG 0.368 NA 14 57 0 0 0 0 C14orf73 91828 broad.mit.edu 37 14 103573994 103573994 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr14:103573994C>T uc001ymk.2 + 9 1804 c.1728C>T c.(1726-1728)TTC>TTT p.F576F NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN hypothetical protein LOC91828 576 0 Melanoma(154;0.155) Epithelial(46;0.221) TGCACCGGTTCGTGGTCCGCG 0.612 NA 4 7 0 0 0 0 SHC4 399694 broad.mit.edu 37 15 49127202 49127202 + Nonsense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr15:49127202G>A uc001zxb.1 - 11 1930 c.1501C>T c.(1501-1503)CAG>TAG p.Q501* SHC4_uc010uey.1_Nonsense_Mutation_p.Q258*|SHC4_uc010uez.1_Nonsense_Mutation_p.Q215* NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 501 CH1. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GCACCCGGCTGAACAGTTTCT 0.418 NA 4 11 0 0 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49288750 49288750 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr15:49288750C>T uc001zxe.1 - 17 2571 c.2437G>A c.(2437-2439)GAG>AAG p.E813K SECISBP2L_uc001zxd.1_Missense_Mutation_p.E768K|SECISBP2L_uc010bep.1_Missense_Mutation_p.E575K NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 813 breast(1)|skin(1) 2 TTCCTGGCCTCCTCAGTGAGT 0.368 NA 55 192 0 0 0 0 THSD4 79875 broad.mit.edu 37 15 72039251 72039251 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr15:72039251G>T uc002atb.1 + 12 2190 c.2111G>T c.(2110-2112)CGC>CTC p.R704L THSD4_uc002ate.2_Missense_Mutation_p.R344L NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 704 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GTTCTGTGCCGCCAGGTGTAC 0.627 NA 13 27 1.36e-06 6.98e-06 1 0 CHSY1 22856 broad.mit.edu 37 15 101719133 101719133 + Missense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr15:101719133C>G uc002bwt.1 - 4 1352 c.869G>C c.(868-870)AGA>ACA p.R290T CHSY1_uc010usd.1_Missense_Mutation_p.R18T NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 290 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGGAGATCTCTAATGTACCC 0.398 NA 13 57 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2347779 2347779 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:2347779G>A uc002cpy.1 - 16 2752 c.2040C>T c.(2038-2040)ATC>ATT p.I680I ABCA3_uc010bsk.1_Silent_p.I622I|ABCA3_uc010bsl.1_Silent_p.I680I NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 680 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TGGAGCCTGCGATGAGGGCGA 0.662 NA 10 54 0 0 0 0 ZNF174 7727 broad.mit.edu 37 16 3452371 3452371 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:3452371G>T uc002cvc.2 + 1 1182 c.367G>T c.(367-369)GAT>TAT p.D123Y ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Missense_Mutation_p.D123Y|ZNF174_uc002cvb.2_Missense_Mutation_p.D123Y NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 123 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 CCTCGTGGAAGATTTTCACAG 0.468 NA 20 50 1.56e-14 8.47e-14 1 0 CREBBP 1387 broad.mit.edu 37 16 3778424 3778424 + Silent SNP T T C rs142545779 byFrequency TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:3778424T>C uc002cvv.2 - 31 6828 c.6624A>G c.(6622-6624)CAA>CAG p.Q2208Q CREBBP_uc002cvw.2_Silent_p.Q2170Q NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2208 Poly-Gln. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.Q2208H(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) gttgctgctgttgttgctgct 0.428 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 6 32 0 0 0 0 NOD2 64127 broad.mit.edu 37 16 50745602 50745602 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:50745602G>A uc002egm.1 + 4 1885 c.1780G>A c.(1780-1782)GGG>AGG p.G594R NOD2_uc010cbk.1_Missense_Mutation_p.G567R|NOD2_uc002egl.1_Missense_Mutation_p.G372R|NOD2_uc010cbl.1_Missense_Mutation_p.G372R|NOD2_uc010cbm.1_Missense_Mutation_p.G372R|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 594 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TGTCGTGCCAGGGAGTACGGC 0.577 NA 10 26 0 0 0 0 RBL2 5934 broad.mit.edu 37 16 53524139 53524139 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:53524139G>C uc002ehi.3 + 22 3465 c.3347G>C c.(3346-3348)AGA>ACA p.R1116T RBL2_uc002ehj.2_Missense_Mutation_p.R826T|RBL2_uc010vgw.1_Missense_Mutation_p.R495T NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1116 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CCTGCAAAAAGAATTTGCCCA 0.393 NA 21 49 0 0 0 0 GOT2 2806 broad.mit.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:58743428G>A uc002eof.1 - 9 1177 c.1063C>T c.(1063-1065)CGG>TGG p.R355W GOT2_uc010vim.1_Missense_Mutation_p.R312W NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 355 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGTTGAGTCCGCATGCCAATG 0.507 NA 7 282 0 0 0 0 SLC38A8 146167 broad.mit.edu 37 16 84065527 84065527 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr16:84065527C>T uc002fhg.1 - 4 577 c.577G>A c.(577-579)GTG>ATG p.V193M NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 193 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 TAGTACTGCACGGTGATGACC 0.617 NA 15 55 0 0 0 0 OR1E2 8388 broad.mit.edu 37 17 3336564 3336564 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:3336564G>T uc010vre.1 - 1 572 c.572C>A c.(571-573)TCT>TAT p.S191Y NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 191 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 CAGCAGAGCAGACATATCACA 0.468 NA 18 27 4.76e-15 2.6e-14 1 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 44 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8053316 8053316 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:8053316C>T uc002gkd.2 - 4 740 c.502G>A c.(502-504)GCA>ACA p.A168T PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.A152T|PER1_uc010vus.1_Missense_Mutation_p.A168T NM_002616 NP_002607 O15534 PER1_HUMAN period 1 168 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CAGGCCAGTGCGTACTGCAGC 0.627 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 41 102 0 0 0 0 TEKT3 64518 broad.mit.edu 37 17 15215733 15215733 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:15215733C>A uc002gon.2 - 7 1131 c.944G>T c.(943-945)CGG>CTG p.R315L NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 315 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGAAGCTGCCCGTTCACTCTG 0.458 NA 20 57 1.34e-09 7.1e-09 1 0 TEKT3 64518 broad.mit.edu 37 17 15234646 15234646 + Missense_Mutation SNP T T C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:15234646T>C uc002gon.2 - 3 444 c.257A>G c.(256-258)AAC>AGC p.N86S NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 86 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) AGTGGTTCTGTTGGAAACAAA 0.478 NA 31 67 0 0 0 0 KRT37 8688 broad.mit.edu 37 17 39580482 39580482 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:39580482G>A uc002hwp.1 - 1 341 c.294C>T c.(292-294)AAC>AAT p.N98N uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 98 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CATTCAGGGTGTTTTTGCCGT 0.582 NA 21 68 0 0 0 0 KRT35 3886 broad.mit.edu 37 17 39635675 39635675 + Missense_Mutation SNP A A C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:39635675A>C uc002hws.2 - 3 678 c.635T>G c.(634-636)CTG>CGG p.L212R NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 212 Rod.|Coil 1B. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) AGACTTGCACAGGGTCAGGTC 0.517 NA 18 82 0 0 0 0 WNT3 7473 broad.mit.edu 37 17 44845801 44845801 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:44845801C>T uc002ikv.2 - 4 1072 c.953G>A c.(952-954)GGC>GAC p.G318D NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 318 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) CGTGTTGTGGCCCCGGCCACA 0.592 NA 31 117 0 0 0 0 QRICH2 84074 broad.mit.edu 37 17 74289852 74289852 + Missense_Mutation SNP C C T rs138229886 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr17:74289852C>T uc002jrd.1 - 4 638 c.458G>A c.(457-459)CGT>CAT p.R153H QRICH2_uc010wsz.1_Missense_Mutation_p.R79H|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 153 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 AGCTTCATCACGGGCCCTCGG 0.542 NA 14 50 0 0 0 0 ATP8B3 148229 broad.mit.edu 37 19 1796851 1796851 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:1796851C>T uc002ltw.2 - 16 1846 c.1612G>A c.(1612-1614)GCC>ACC p.A538T ATP8B3_uc002ltv.2_Missense_Mutation_p.A491T|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 538 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCCCGTCGGCGAACTTGTTC 0.721 NA 7 20 0 0 0 0 PRKACA 5566 broad.mit.edu 37 19 14213716 14213716 + Missense_Mutation SNP A A G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:14213716A>G uc002myc.2 - 4 448 c.248T>C c.(247-249)CTG>CCG p.L83P PRKACA_uc002myb.2_Missense_Mutation_p.L75P|PRKACA_uc010xnm.1_Missense_Mutation_p.L25P|PRKACA_uc002myd.2_Missense_Mutation_p.L25P NM_002730 NP_002721 P17612 KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit 83 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 GATCTGTTTCAGTTTCACCAC 0.562 NA 23 81 0 0 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806808 15806808 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:15806808C>T uc002nbl.2 + 10 1239 c.1178C>T c.(1177-1179)CCC>CTC p.P393L NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) AGGTTACATCCCCCAGCTCCC 0.597 NA 27 61 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156897 22156897 + Nonsense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:22156897G>T uc002nqp.2 - 4 1088 c.939C>A c.(937-939)TAC>TAA p.Y313* ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTTACATTTGTAGGGCTTCT 0.418 NA 9 48 2.18e-05 0.00010967 1 0 SLC7A9 11136 broad.mit.edu 37 19 33334841 33334841 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:33334841C>T uc002ntv.3 - 10 1111 c.994G>A c.(994-996)GGC>AGC p.G332S SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.G332S|SLC7A9_uc002ntw.3_Missense_Mutation_p.G123S NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 332 Cytoplasmic (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) CCCTCCCGGCCCGCCACGTAA 0.567 NA 7 28 0 0 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791871 34791871 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:34791871G>A uc002nvd.3 + 2 1352 c.493G>A c.(493-495)GAG>AAG p.E165K KIAA0355_uc010edk.1_Missense_Mutation_p.E155K NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 165 ovary(1) 1 Esophageal squamous(110;0.162) CCAGGACATTGAGGTAGAGTA 0.393 NA 10 43 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39334716 39334716 + Missense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:39334716C>G uc010xul.1 - 5 750 c.739G>C c.(739-741)GCC>CCC p.A247P HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Missense_Mutation_p.A114P|HNRNPL_uc010xun.1_5'UTR NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 247 RRM 2. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GAGGCCTTGGCCCGCTGGGCA 0.493 NA 20 65 0 0 0 0 PSG1 5669 broad.mit.edu 37 19 43382154 43382155 + Missense_Mutation DNP CG CG AT rs142473373 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:43382154_43382155CG>AT uc002ovb.2 - 2 478_479 c.340_341CG>AT c.(340-342)CGG>ATG p.R114M PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R114M|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R114M|PSG1_uc010eio.1_Missense_Mutation_p.R114M|PSG1_uc002oux.1_Missense_Mutation_p.R43M|PSG1_uc002ouy.1_Missense_Mutation_p.R114M|PSG1_uc002ouz.1_Missense_Mutation_p.R114M|PSG1_uc002ova.1_Missense_Mutation_p.R114M|PSG1_uc002ovc.2_Missense_Mutation_p.R114M|PSG1_uc002ovd.1_Missense_Mutation_p.R114M NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 114 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TGCGTCCTCCCGGGTGACATTC 0.45 NA 9 397 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50102549 50102549 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:50102549G>A uc002poo.3 + 5 3699 c.3699G>A c.(3697-3699)AAG>AAA p.K1233K NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 412 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTGTGCCCAAGGCTGGCGAGG 0.617 NA 6 22 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57642405 57642405 + Missense_Mutation SNP G G T rs148519716 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr19:57642405G>T uc002qny.2 + 4 2718 c.2362G>T c.(2362-2364)GGT>TGT p.G788C NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 788 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGGGCACTGGGTTCTGACAA 0.458 NA 14 31 3.27e-08 1.7e-07 1 0 ALLC 55821 broad.mit.edu 37 2 3726069 3726069 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:3726069G>A uc010ewt.2 + 4 257 c.96G>A c.(94-96)CCG>CCA p.P32P NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 51 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GTGACAGCCCGTGCTTCAAAG 0.488 NA HNSCC(21;0.051) 7 30 0 0 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43953472 43953472 + Missense_Mutation SNP A A T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:43953472A>T uc010yny.1 + 17 2686 c.2603A>T c.(2602-2604)GAT>GTT p.D868V PLEKHH2_uc002rtf.3_Missense_Mutation_p.D867V NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 868 PH 2. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGATCTTGTGATTCAGATGAA 0.388 NA 10 44 0 0 0 0 GPR45 11250 broad.mit.edu 37 2 105858505 105858505 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:105858505G>T uc002tco.1 + 1 306 c.190G>T c.(190-192)GCT>TCT p.A64S NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 64 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CCAGAGGCCGGCTATGCGCTC 0.617 NA 33 104 1.56e-22 8.71e-22 1 0 HECW2 57520 broad.mit.edu 37 2 197183717 197183717 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:197183717C>T uc002utm.1 - 9 2080 c.1897G>A c.(1897-1899)GAG>AAG p.E633K HECW2_uc002utl.1_Missense_Mutation_p.E277K NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 633 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTCTCTCCCTCAGGCCTGGTG 0.592 NA 13 31 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202150039 202150039 + Nonsense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:202150039C>T uc002uxr.1 + 9 1512 c.1303C>T c.(1303-1305)CGA>TGA p.R435* CASP8_uc002uxp.1_Nonsense_Mutation_p.R452*|CASP8_uc002uxq.1_Nonsense_Mutation_p.R420*|CASP8_uc002uxt.1_Nonsense_Mutation_p.R494*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.R420*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.R351* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 435 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 GCGATGTCCTCGGTAAGTTTT 0.502 NA HNSCC(4;0.00038) 15 54 0 0 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169470 207169470 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:207169470C>A uc002vbp.2 + 5 468 c.218C>A c.(217-219)ACT>AAT p.T73N NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 73 nucleic acid binding|zinc ion binding ovary(3) 3 CATGTGAATACTGGGTCATCG 0.383 NA 22 39 2.22e-12 1.19e-11 1 0 OBSL1 23363 broad.mit.edu 37 2 220419305 220419305 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:220419305C>T uc010fwk.2 - 15 4824 c.4767G>A c.(4765-4767)TCG>TCA p.S1589S NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1589 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGTGGCCGTCCGAGTGGATGT 0.642 NA 7 20 0 0 0 0 THAP4 51078 broad.mit.edu 37 2 242573331 242573331 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:242573331C>T uc002wbt.2 - 2 464 c.241G>A c.(241-243)GTG>ATG p.V81M NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 81 THAP-type. DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) ATGGATGGCACGGCCGTGGGC 0.587 NA 36 123 0 0 0 0 SLC4A11 83959 broad.mit.edu 37 20 3208447 3208447 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr20:3208447C>T uc002wig.2 - 19 2710 c.2662G>A c.(2662-2664)GAG>AAG p.E888K SLC4A11_uc010zqe.1_Missense_Mutation_p.E915K|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.E872K NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 888 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GGCCTGTGCTCAGCGTCCATG 0.612 NA 11 38 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36688143 36688144 + Missense_Mutation DNP CA CA AG TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr22:36688143_36688144CA>AG uc003apg.2 - 31 4463_4464 c.4232_4233TG>CT c.(4231-4233)CTG>CCT p.L1411P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1411 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGGTCTTCTCCAGCTTGTCGTA 0.634 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 9 75 0 0 0 0 CACNG2 10369 broad.mit.edu 37 22 37098538 37098538 + Silent SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr22:37098538C>A uc003aps.1 - 1 366 c.84G>T c.(82-84)GTG>GTT p.V28V uc003apt.1_5'Flank NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 28 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 AGTCGGTTCCCACAGCTATGG 0.453 NA 43 146 1.22e-19 6.72e-19 1 0 MEI1 150365 broad.mit.edu 37 22 42189908 42189908 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr22:42189908G>C uc003baz.1 + 27 3446 c.3421G>C c.(3421-3423)GAC>CAC p.D1141H WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D527H|MEI1_uc003bbc.1_Missense_Mutation_p.D509H|MEI1_uc010gym.1_Missense_Mutation_p.D474H|MEI1_uc003bbd.1_Missense_Mutation_p.D384H|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.D155H|MEI1_uc010gyo.1_3'UTR|MEI1_uc003bbf.2_Missense_Mutation_p.D155H|MEI1_uc003bbg.2_Missense_Mutation_p.D155H NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 1141 binding central_nervous_system(1)|skin(1) 2 CCGGAGCCCAGACATTGGTAG 0.498 NA 5 13 0 0 0 0 FLNB 2317 broad.mit.edu 37 3 58120482 58120482 + Missense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr3:58120482C>G uc003djj.2 + 27 4819 c.4654C>G c.(4654-4656)CTT>GTT p.L1552V FLNB_uc010hne.2_Missense_Mutation_p.L1583V|FLNB_uc003djk.2_Missense_Mutation_p.L1552V|FLNB_uc010hnf.2_Missense_Mutation_p.L1552V|FLNB_uc003djl.2_Missense_Mutation_p.L1383V|FLNB_uc003djm.2_Missense_Mutation_p.L1383V NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1552 Filamin 14. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAAGGCCTGCTTGCTGTTCA 0.473 NA 43 132 0 0 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377777 113377777 + Nonsense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr3:113377777G>A uc003eam.2 - 7 3163 c.2752C>T c.(2752-2754)CAA>TAA p.Q918* KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q862* NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 918 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GATGTCTCTTGTTGTAGATTA 0.448 NA 33 98 0 0 0 0 EIF2B5 8893 broad.mit.edu 37 3 183858377 183858377 + Silent SNP C C A rs113994068 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr3:183858377C>A uc003fmp.2 + 7 1379 c.1015C>A c.(1015-1017)CGG>AGG p.R339R EIF2B5_uc003fmq.2_Silent_p.R60R|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 339 R -> Q (in VWM).|R -> W (in VWM).|R -> P (in VWM). astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CACTCATTCCCGGCACAACAT 0.587 NA 5 112 0.00116845 0.00555216 1 0 UGT2B10 7365 broad.mit.edu 37 4 69682402 69682402 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr4:69682402G>C uc003hee.2 + 1 690 c.665G>C c.(664-666)TGG>TCG p.W222S UGT2B10_uc011cam.1_Intron NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 222 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TTTGACTTTTGGTTCCAAATA 0.313 NA 17 65 0 0 0 0 FBXO8 26269 broad.mit.edu 37 4 175158632 175158632 + Missense_Mutation SNP T T A rs148818503 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr4:175158632T>A uc003itp.2 - 6 1741 c.891A>T c.(889-891)CAA>CAT p.Q297H FBXO8_uc003itq.2_Missense_Mutation_p.Q256H NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 297 regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) CACTAATATTTTGAGCAGCGC 0.378 NA 19 58 0 0 0 0 IRF2 3660 broad.mit.edu 37 4 185339790 185339790 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr4:185339790G>A uc003iwf.3 - 4 460 c.260C>T c.(259-261)TCC>TTC p.S87F NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 87 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) ATCAGGCAAGGAATTCATGGC 0.408 NA 8 36 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21817158 21817158 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:21817158G>T uc010iuc.2 - 6 1356 c.898C>A c.(898-900)CAA>AAA p.Q300K CDH12_uc011cno.1_Missense_Mutation_p.Q260K|CDH12_uc003jgk.2_Missense_Mutation_p.Q300K NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 300 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTGCATTTTGTCCAAAATCA 0.388 NA HNSCC(59;0.17) 14 87 3.27e-08 1.7e-07 1 0 TTC23L 153657 broad.mit.edu 37 5 34864544 34864544 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:34864544G>A uc003jiu.2 + 6 642 c.539G>A c.(538-540)GGC>GAC p.G180D TTC23L_uc003jiv.2_5'UTR|TTC23L_uc010iut.1_5'UTR NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 180 Potential. binding central_nervous_system(1) 1 TATTTCACTGGCAGAGAAGCC 0.423 NA 6 105 0 0 0 0 PLK2 10769 broad.mit.edu 37 5 57751189 57751189 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:57751189C>T uc003jrn.2 - 12 1805 c.1678G>A c.(1678-1680)GAT>AAT p.D560N NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 560 POLO box 1. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) TCAGGAGCATCTGTTGCTGGG 0.408 NA 15 67 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94833175 94833175 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:94833175G>T uc003klb.2 - 34 3851 c.3581C>A c.(3580-3582)GCT>GAT p.A1194D NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1194 binding ovary(3)|pancreas(1) 4 AGACCAAAGAGCAGGGTCACC 0.373 NA 6 20 0.000157383 0.000774942 1 0 FSTL4 23105 broad.mit.edu 37 5 132556521 132556521 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:132556521G>A uc003kyn.1 - 12 1595 c.1377C>T c.(1375-1377)GAC>GAT p.D459D FSTL4_uc003kym.1_Silent_p.D108D NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 459 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGATACCGTCGTCGGAGAAGA 0.547 NA 19 84 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779287 140779287 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:140779287C>T uc003lkf.1 + 1 1593 c.1593C>T c.(1591-1593)CGC>CGT p.R531R 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_uc011daw.1_Silent_p.R531R NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 531 Extracellular (Potential).|Cadherin 5. 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) TACAGGCCCGCGACCAGGGCT 0.662 NA 7 27 0 0 0 0 FBXO38 81545 broad.mit.edu 37 5 147819261 147819261 + Missense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr5:147819261C>G uc003lpf.1 + 19 3196 c.3076C>G c.(3076-3078)CAC>GAC p.H1026D FBXO38_uc003lpg.1_Missense_Mutation_p.H951D|FBXO38_uc003lph.2_Missense_Mutation_p.H781D NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 1026 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACCCCTATCACATCTGTAT 0.433 NA 16 88 0 0 0 0 WRNIP1 56897 broad.mit.edu 37 6 2779537 2779537 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:2779537G>A uc003mtz.2 + 4 1488 c.1297G>A c.(1297-1299)GCT>ACT p.A433T WRNIP1_uc003mua.2_Missense_Mutation_p.A408T NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 433 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) AGACACCCTGGCTTACCTCAG 0.532 NA 22 67 0 0 0 0 MBOAT1 154141 broad.mit.edu 37 6 20124638 20124638 + Splice_Site SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:20124638C>T uc003ncx.1 - 8 1112 c.907_splice c.e8+1 p.A303_splice MBOAT1_uc011dji.1_Splice_Site_p.A154_splice NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ATCAAACTTACCTAATGTCCA 0.428 NA 12 45 0 0 0 0 ZNF192 7745 broad.mit.edu 37 6 28120928 28120928 + Silent SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:28120928C>T uc003nkn.1 + 6 1054 c.870C>T c.(868-870)AAC>AAT p.N290N ZNF192_uc010jqx.1_Silent_p.N290N|ZNF192_uc010jqy.1_Silent_p.N103N|ZNF192_uc011dkz.1_Silent_p.N103N NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 290 KRAB. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCAAATGCAACGGGGATGTTA 0.493 NA 19 36 0 0 0 0 KCTD20 222658 broad.mit.edu 37 6 36449469 36449469 + Silent SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:36449469G>C uc003ome.2 + 6 1180 c.789G>C c.(787-789)CTG>CTC p.L263L KCTD20_uc011dtm.1_Silent_p.L118L|KCTD20_uc011dtn.1_Silent_p.L17L|KCTD20_uc010jwk.2_Silent_p.L97L|KCTD20_uc011dto.1_Silent_p.L17L NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerisation domain 263 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 TTGTTGTGCTGACGGATGAGG 0.507 NA 8 54 0 0 0 0 MEA1 4201 broad.mit.edu 37 6 42980233 42980233 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:42980233C>T uc003otk.2 - 4 600 c.533G>A c.(532-534)CGG>CAG p.R178Q MEA1_uc010jyc.1_Intron|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank NM_014623 NP_055438 Q16626 MEA1_HUMAN male-enhanced antigen 178 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|skin(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGATGCCTGCCGGGCTTGGAG 0.582 NA 37 172 0 0 0 0 SLC35F1 222553 broad.mit.edu 37 6 118228943 118228943 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr6:118228943G>A uc003pxx.3 + 1 255 c.54G>A c.(52-54)CCG>CCA p.P18P NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 18 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) CGCCAGCCCCGCCGAACCATG 0.746 NA 14 16 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21639665 21639665 + Missense_Mutation SNP G G T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:21639665G>T uc003svc.2 + 15 2959 c.2928G>T c.(2926-2928)ATG>ATT p.M976I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 976 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TAGAAGAAATGTTATGCAATA 0.373 NA Kartagener_syndrome 5 94 5.94e-07 3.07e-06 1 0 GTF2I 2969 broad.mit.edu 37 7 74105332 74105332 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:74105332G>A uc003uau.2 + 3 497 c.127G>A c.(127-129)GAA>AAA p.E43K GTF2I_uc003uat.2_Missense_Mutation_p.E43K|GTF2I_uc003uav.2_Missense_Mutation_p.E43K|GTF2I_uc003uaw.2_Missense_Mutation_p.E43K|GTF2I_uc003uay.2_Missense_Mutation_p.E43K|GTF2I_uc003uax.2_Missense_Mutation_p.E43K NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 43 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 GTCCAAAGCCGAAGTGGCCTG 0.408 NA 43 126 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963666 88963666 + Missense_Mutation SNP G G C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:88963666G>C uc011khi.1 + 4 1908 c.1370G>C c.(1369-1371)TGG>TCG p.W457S NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 457 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACTCTTCAATGGCCTACGGAA 0.418 NA HNSCC(36;0.09) 12 63 0 0 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635071 122635071 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:122635071C>A uc003vkl.1 - 1 684 c.618G>T c.(616-618)CAG>CAT p.Q206H NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 206 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 GATGTTGTATCTGCTTGGTCA 0.463 NA 18 92 1.01e-13 5.46e-13 1 0 PAX4 5078 broad.mit.edu 37 7 127253563 127253563 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:127253563C>T uc010lld.1 - 5 768 c.562G>A c.(562-564)GAT>AAT p.D188N PAX4_uc003vmf.2_Missense_Mutation_p.D186N|PAX4_uc003vmg.1_Missense_Mutation_p.D188N|PAX4_uc003vmh.2_Missense_Mutation_p.D186N NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 196 Homeobox. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCACTGAATCAGGATACTGC 0.577 NA 15 55 0 0 0 0 AGK 55750 broad.mit.edu 37 7 141333766 141333766 + Silent SNP C C T rs144977618 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:141333766C>T uc003vwi.2 + 10 825 c.654C>T c.(652-654)GGC>GGT p.G218G AGK_uc011krg.1_RNA NM_018238 NP_060708 Q53H12 AGK_HUMAN acylglycerol kinase precursor 218 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity ovary(1)|breast(1) 2 Melanoma(164;0.0171) GAGATGCTGGCGTCAAAGTTA 0.368 NA 22 60 0 0 0 0 SLC4A2 6522 broad.mit.edu 37 7 150771490 150771490 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:150771490G>A uc003wit.3 + 18 3051 c.2795G>A c.(2794-2796)CGG>CAG p.R932Q SLC4A2_uc011kve.1_Missense_Mutation_p.R923Q|SLC4A2_uc003wiu.3_Missense_Mutation_p.R918Q|SLC4A2_uc003wiv.3_Missense_Mutation_p.R126Q NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 932 Membrane (anion exchange).|Cytoplasmic (Potential). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTCAGATCCGGCGGGTGATT 0.597 NA 35 98 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151848538 151848538 + Missense_Mutation SNP G G A rs139111507 byFrequency TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr7:151848538G>A uc003wla.2 - 50 12874 c.12655C>T c.(12655-12657)CTT>TTT p.L4219F MLL3_uc003wkz.2_Missense_Mutation_p.L3337F|MLL3_uc003wkx.2_Missense_Mutation_p.L377F|MLL3_uc003wky.2_Missense_Mutation_p.L1783F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4219 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGTTCAAAAGGGTCAGATCT 0.463 NA N medulloblastoma 6 20 0 0 0 0 NEIL2 252969 broad.mit.edu 37 8 11637389 11637389 + Missense_Mutation SNP G G A rs113905789 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr8:11637389G>A uc003wug.2 + 3 1096 c.421G>A c.(421-423)GTT>ATT p.V141I NEIL2_uc003wue.2_Missense_Mutation_p.V141I|NEIL2_uc003wuf.2_Missense_Mutation_p.V80I|NEIL2_uc011kxd.1_Intron NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 141 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GTTTGGCAGCGTTTGGGTGAA 0.572 NA BER_DNA_glycosylases 34 75 0 0 0 0 PSD3 23362 broad.mit.edu 37 8 18725364 18725364 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr8:18725364C>T uc003wza.2 - 4 1557 c.1454G>A c.(1453-1455)CGC>CAC p.R485H NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 485 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTCTTTAATGCGCTGTTGTAT 0.463 NA 45 154 0 0 0 0 MYST3 7994 broad.mit.edu 37 8 41791631 41791631 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr8:41791631G>A uc010lxb.2 - 18 4651 c.4107C>T c.(4105-4107)ACC>ACT p.T1369T MYST3_uc010lxc.2_Silent_p.T1369T|MYST3_uc003xon.3_Silent_p.T1369T NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1369 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) AATCCAGCTCGGTTTCCTCTT 0.502 NA 15 93 0 0 0 0 DENND4C 55667 broad.mit.edu 37 9 19346744 19346744 + Nonsense_Mutation SNP C C G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:19346744C>G uc003znq.2 + 18 3155 c.3122C>G c.(3121-3123)TCA>TGA p.S1041* DENND4C_uc011lnc.1_Nonsense_Mutation_p.S371*|DENND4C_uc011lnd.1_Nonsense_Mutation_p.S329*|DENND4C_uc003znr.2_Nonsense_Mutation_p.S329*|DENND4C_uc003zns.2_Nonsense_Mutation_p.S223*|DENND4C_uc003znt.2_Nonsense_Mutation_p.S223* NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1041 integral to membrane ovary(1)|skin(1) 2 GAGAGGAGATCAAGCCTACCT 0.433 NA 12 93 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 6 0 0 0 0 KIF24 347240 broad.mit.edu 37 9 34290194 34290194 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:34290194C>T uc003zua.3 - 5 1225 c.1105G>A c.(1105-1107)GAC>AAC p.D369N KIF24_uc010mkb.2_Missense_Mutation_p.D400N NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 369 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) TTTAGGAGGTCATAAAGCTGT 0.413 NA 22 82 0 0 0 0 RECK 8434 broad.mit.edu 37 9 36110025 36110025 + Missense_Mutation SNP C C A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:36110025C>A uc003zyv.2 + 15 1923 c.1837C>A c.(1837-1839)CGC>AGC p.R613S RECK_uc003zyw.2_Missense_Mutation_p.R485S|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 613 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GTGCTCTACCCGCCTTTGCCT 0.473 NA 6 153 0.00198382 0.00932875 1 0 IARS 3376 broad.mit.edu 37 9 95043159 95043159 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:95043159G>A uc004art.1 - 7 871 c.614C>T c.(613-615)TCA>TTA p.S205L IARS_uc004ars.1_Missense_Mutation_p.S50L|IARS_uc004aru.3_Missense_Mutation_p.S205L|IARS_uc010mqr.2_Missense_Mutation_p.S95L|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 205 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) TACAAATACTGAAGGATCTTG 0.368 NA 5 35 0 0 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111745573 111745573 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:111745573C>T uc004bdo.1 - 6 794 c.752G>A c.(751-753)TGC>TAC p.C251Y CTNNAL1_uc010mts.1_5'UTR|CTNNAL1_uc010mtt.1_Missense_Mutation_p.C251Y|CTNNAL1_uc004bdp.1_Missense_Mutation_p.C251Y NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 251 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) GGCTGATTCGCAGTTAGGATG 0.338 NA 10 41 0 0 0 0 OLFM1 10439 broad.mit.edu 37 9 138011897 138011897 + Missense_Mutation SNP A A G TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr9:138011897A>G uc010nar.2 + 6 1647 c.1331A>G c.(1330-1332)AAC>AGC p.N444S OLFM1_uc004cfl.3_Missense_Mutation_p.N426S|OLFM1_uc004cfn.3_Missense_Mutation_p.N195S NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 444 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CCATTCCAGAACAAATACTCC 0.537 NA 13 82 0 0 0 0 RS1 6247 broad.mit.edu 37 X 18662590 18662590 + Missense_Mutation SNP A A C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:18662590A>C uc004cyo.2 - 5 517 c.482T>G c.(481-483)CTG>CGG p.L161R CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 161 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) AATCCAGTTCAGGCGCTCATC 0.532 NA 6 95 0 0 0 0 FAM47A 158724 broad.mit.edu 37 X 34149003 34149003 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:34149003C>T uc004ddg.2 - 1 1426 c.1393G>A c.(1393-1395)GAA>AAA p.E465K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 465 ovary(4)|central_nervous_system(1) 5 AGGCAGGGTTCCCCACAAGGG 0.602 NA 13 45 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70342193 70342193 + Silent SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:70342193G>A uc004dyy.2 + 8 1444 c.1245G>A c.(1243-1245)CAG>CAA p.Q415Q MED12_uc011mpq.1_Silent_p.Q415Q|MED12_uc004dyz.2_Silent_p.Q415Q|MED12_uc004dza.2_Silent_p.Q262Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 415 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CCTTCACTCAGCAGGTATGTC 0.483 NA 17 39 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105183934 105183934 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:105183934G>A uc004emd.2 + 23 4171 c.3868G>A c.(3868-3870)GAA>AAA p.E1290K NRK_uc010npc.1_Missense_Mutation_p.E958K NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1290 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TAATGATCCAGAAAGTAAAAG 0.378 NA HNSCC(51;0.14) 4 14 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107979141 107979141 + Missense_Mutation SNP C C T TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:107979141C>T uc004eoc.2 - 1 467 c.434G>A c.(433-435)CGG>CAG p.R145Q NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 145 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GATCACGCGCCGCGGTGGAAT 0.632 NA 7 35 0 0 0 0 TMEM187 8269 broad.mit.edu 37 X 153247752 153247752 + Missense_Mutation SNP T T C TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chrX:153247752T>C uc004fjq.2 + 2 773 c.239T>C c.(238-240)CTG>CCG p.L80P hsa-mir-3202-2|MI0014253_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN transmembrane protein 187 80 integral to membrane|transport vesicle 0 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGATGGGGCTGGGTCCCCGC 0.692 NA 7 24 0 0 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190619979 190619982 + Frame_Shift_Del DEL ACAG ACAG - TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98 a4236b26-0102-4650-b659-45cb5f0a61d9 g.chr2:190619979_190619982delACAG uc002uqz.1 - 3 1060_1063 c.526_529delCTGT c.(526-531)CTGTTGfs p.L176fs OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.L176fs NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 176_177 proteolysis|tRNA processing metalloendopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) ACTAATGCCAACAGACAGTGACCT 0.368 NA 19 84 --- --- --- --- NA NA NA NA