Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRAMEF1 65121 broad.mit.edu 37 1 12855993 12855993 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:12855993G>A uc001auj.1 + 4 1376 c.1273G>A c.(1273-1275)GTC>ATC p.V425I NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 425 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGTTCGTGTCAATTGGGA 0.577 NA 27 198 0 0 0.01441 0 0 SPEN 23013 broad.mit.edu 37 1 16258564 16258564 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:16258564G>A uc001axk.1 + 11 6033 c.5829G>A c.(5827-5829)GCG>GCA p.A1943A SPEN_uc010obp.1_Silent_p.A1902A NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1943 Potential. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGCTGCAGCGGTTCCCACCA 0.587 NA 10 57 0 0 0.001855 0 0 CPT2 1376 broad.mit.edu 37 1 53668099 53668099 + Missense_Mutation SNP C C T rs74315294 byFrequency TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:53668099C>T uc001cvb.3 + 3 853 c.338C>T c.(337-339)TCG>TTG p.S113L NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 113 Mitochondrial matrix (By similarity). S -> L (in CPT2D; muscular form. Frequent mutation, may be a polymorphism as it found in some 'normal' cDNA seqeuences). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) AGCTACATTTCGGGTAGGTAG 0.418 NA 5 63 0 0 0.001168 0 0 LEPROT 54741 broad.mit.edu 37 1 65895546 65895546 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:65895546G>T uc001dcf.2 + 3 183 c.94G>T c.(94-96)GTT>TTT p.V32F LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.V41F NM_017526 NP_059996 O15243 OBRG_HUMAN leptin receptor gene-related protein 32 Helical; (Potential). endosome membrane|Golgi membrane|integral to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AACTGACAGCGTTTACTGGCC 0.398 NA 28 131 9.04072e-19 1.39985e-18 0.003271 1 0 C1orf161 126868 broad.mit.edu 37 1 116675911 116675911 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:116675911C>A uc001egc.1 + 7 1279 c.1014C>A c.(1012-1014)GCC>GCA p.A338A NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 338 T -> A (in Ref. 1; BAC04682 and 3; AAI28150). 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTCAGTGCACCAACCCGACTG 0.582 NA 6 130 8.12818e-05 9.21621e-05 0.001984 1 0 PKLR 5313 broad.mit.edu 37 1 155264336 155264336 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:155264336A>G uc001fkb.3 - 6 941 c.902T>C c.(901-903)CTG>CCG p.L301P RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.L270P NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 301 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) TTCCGGACCCAGAGCAGCCCT 0.612 NA 7 37 0 0 0.00308 0 0 CD244 51744 broad.mit.edu 37 1 160802351 160802351 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:160802351C>T uc009wtq.2 - 8 1168 c.990G>A c.(988-990)AAG>AAA p.K330K CD244_uc001fxa.2_Silent_p.K325K|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Silent_p.K233K NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 330 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGTGGTTCCTCTTCCTGGATC 0.433 NA 11 70 0 0 0.008291 0 0 CR2 1380 broad.mit.edu 37 1 207642509 207642509 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:207642509G>A uc001hfw.2 + 5 843 c.749G>A c.(748-750)GGC>GAC p.G250D CR2_uc001hfv.2_Missense_Mutation_p.G250D|CR2_uc009xch.2_Missense_Mutation_p.G250D|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 250 Sushi 4.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CGACTGCAAGGCCCACCTTCT 0.473 NA 34 173 0 0 0.011902 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088985 220088985 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:220088985G>T uc001hlw.2 - 4 1475 c.1264C>A c.(1264-1266)CTG>ATG p.L422M SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.L177M|SLC30A10_uc001hlx.2_Missense_Mutation_p.L197M NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 422 Cytoplasmic (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ACGTGAGCCAGAGGCAGTGCC 0.567 Colon(76;360 1614 43677 51136) NA 13 53 1.49906e-05 1.755e-05 0.00245 1 0 AIDA 64853 broad.mit.edu 37 1 222860943 222860943 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:222860943G>A uc001hnn.2 - 5 552 c.347C>T c.(346-348)CCA>CTA p.P116L AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.P92L NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 116 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 TTACCTTAATGGGACAGGCTG 0.269 NA 9 70 0 0 0.008291 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014516 247014516 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:247014516C>A uc001ibu.1 - 32 4799 c.4792G>T c.(4792-4794)GGT>TGT p.G1598C AHCTF1_uc001ibv.1_Missense_Mutation_p.G1607C|AHCTF1_uc009xgs.1_Missense_Mutation_p.G459C|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1598 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCTTCTTCACCTTCCAATATC 0.413 Colon(145;197 1800 4745 15099 26333) NA 15 43 6.94344e-10 9.614e-10 0.006122 1 0 SPAG6 9576 broad.mit.edu 37 10 22675764 22675764 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:22675764G>T uc001iri.2 + 5 696 c.554G>T c.(553-555)AGG>ATG p.R185M SPAG6_uc001irj.2_Missense_Mutation_p.R185M|SPAG6_uc010qct.1_Missense_Mutation_p.R155M|SPAG6_uc009xkh.2_Missense_Mutation_p.R163M NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 185 ARM 4. R -> G (in Ref. 7; AAH30585). cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GCTTTGAAAAGGATTGCTGCT 0.473 NA 19 79 1.50039e-11 2.18239e-11 0.012319 1 0 ARMC3 219681 broad.mit.edu 37 10 23235079 23235079 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:23235079C>A uc001irm.3 + 3 138 c.55C>A c.(55-57)CCA>ACA p.P19T ARMC3_uc010qcv.1_Missense_Mutation_p.P19T|ARMC3_uc010qcw.1_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 19 ARM 1. binding 0 TCAGTTTGACCCATTAATGAT 0.308 NA 5 39 3.59834e-05 4.14528e-05 0.001168 1 0 GRID1 2894 broad.mit.edu 37 10 87628808 87628808 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:87628808G>C uc001kdl.1 - 6 1011 c.910C>G c.(910-912)CTG>GTG p.L304V GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 304 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCGCAGAGCAGGGAGGAGATG 0.577 NA Multiple Myeloma(13;0.14) 16 75 0 0 0.00499 0 0 C10orf96 374355 broad.mit.edu 37 10 118137968 118137968 + Silent SNP T T C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:118137968T>C uc001lck.2 + 8 938 c.687T>C c.(685-687)GAT>GAC p.D229D NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 229 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) ATAAGGAAGATGACATGGAAA 0.274 NA 8 51 0 0 0.006214 0 0 C10orf90 118611 broad.mit.edu 37 10 128153375 128153375 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:128153375C>G uc001ljq.2 - 4 1545 c.1424G>C c.(1423-1425)AGC>ACC p.S475T C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Missense_Mutation_p.S572T|C10orf90_uc009yao.2_3'UTR|C10orf90_uc001ljo.2_5'Flank NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 475 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTTCAGGAAGCTTTGATGTCG 0.473 NA 6 39 0 0 0.001168 0 0 CDHR5 53841 broad.mit.edu 37 11 619514 619514 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:619514G>A uc001lqj.2 - 11 1358 c.1253C>T c.(1252-1254)ACC>ATC p.T418I CDHR5_uc001lqk.2_Missense_Mutation_p.T418I|CDHR5_uc009ycc.2_Missense_Mutation_p.T252I|CDHR5_uc009ycd.2_Missense_Mutation_p.T418I|CDHR5_uc001lql.2_Missense_Mutation_p.T418I|CDHR5_uc001lqm.2_Missense_Mutation_p.T252I|CDHR5_uc009yce.1_Missense_Mutation_p.T387I NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 418 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TGTGGTGGTGGTCAGCACAAC 0.597 NA 25 144 0 0 0.004289 0 0 LDHA 3939 broad.mit.edu 37 11 18418443 18418443 + Silent SNP C C A rs11553865 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:18418443C>A uc001mok.3 + 2 326 c.54C>A c.(52-54)ACC>ACA p.T18T LDHA_uc010rdc.1_Silent_p.T18T|LDHA_uc009yhn.2_Silent_p.T18T|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Silent_p.T18T|LDHA_uc010rdd.1_Silent_p.T47T NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 18 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) AAGAACAGACCCCCCAGAATA 0.418 NA 11 79 2.27111e-07 2.92e-07 0.013537 1 0 PCNXL3 399909 broad.mit.edu 37 11 65393401 65393401 + Silent SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:65393401A>G uc001oey.2 + 20 3255 c.3255A>G c.(3253-3255)GCA>GCG p.A1085A PCNXL3_uc009yqn.2_Silent_p.A45A|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1085 Helical; (Potential). integral to membrane 0 TGTTGTACGCACTGGCTGGGG 0.632 NA OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 50 0 0 0.00245 0 0 UBTFL1 642623 broad.mit.edu 37 11 89819380 89819380 + Missense_Mutation SNP A A G rs75726606 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:89819380A>G uc010rub.1 + 1 263 c.263A>G c.(262-264)AAC>AGC p.N88S NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 88 multicellular organismal development cytoplasm|nucleus DNA binding 0 AAAAAGATGAACAAAAGCCAA 0.413 NA 3 19 0 0 0.001168 0 0 SIDT2 51092 broad.mit.edu 37 11 117063023 117063023 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:117063023C>T uc001pqh.1 + 20 1967 c.1926C>T c.(1924-1926)ATC>ATT p.I642I SIDT2_uc010rxe.1_Silent_p.I642I|SIDT2_uc001pqg.2_Silent_p.I663I|SIDT2_uc001pqi.1_Silent_p.I639I|SIDT2_uc001pqj.1_5'Flank NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 642 Helical; (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TCATTCACATCATCGCCACCC 0.637 NA 7 99 0 0 0.004482 0 0 OR8D4 338662 broad.mit.edu 37 11 123777516 123777516 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:123777516C>A uc010saa.1 + 1 378 c.378C>A c.(376-378)ATC>ATA p.I126I NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ACGTGGCCATCTGCAGCCCAC 0.502 NA 16 69 3.41278e-10 4.81805e-10 0.00499 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 19 0 0 0.010729 0 0 ALG10 84920 broad.mit.edu 37 12 34179154 34179154 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:34179154G>T uc001rlm.2 + 3 1045 c.726G>T c.(724-726)ATG>ATT p.M242I NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 242 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) CTTATTCCATGTCCTTTAAAA 0.368 NA 25 139 7.38237e-10 1.01244e-09 0.00632 1 0 KDM2B 84678 broad.mit.edu 37 12 121947779 121947779 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:121947779T>A uc001uat.2 - 11 1342 c.1238A>T c.(1237-1239)GAG>GTG p.E413V KDM2B_uc001uar.2_Missense_Mutation_p.E4V|KDM2B_uc001uas.2_Missense_Mutation_p.E382V|KDM2B_uc001uau.2_Missense_Mutation_p.E296V|KDM2B_uc001uav.3_Missense_Mutation_p.E323V NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 413 Glu-rich. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 ATCACAGGCCTCCTCCTCCAT 0.542 NA 10 40 0 0 0.010729 0 0 IFT88 8100 broad.mit.edu 37 13 21166516 21166516 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr13:21166516C>T uc001unh.2 + 9 794 c.398C>T c.(397-399)TCC>TTC p.S133F IFT88_uc001uni.2_Missense_Mutation_p.S124F|IFT88_uc001unj.2_Missense_Mutation_p.S123F|IFT88_uc010tcq.1_Missense_Mutation_p.S104F NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 133 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GGCCCTGCTTCCCCTTTGGAA 0.358 NA 3 45 0 0 0.009096 0 0 TEP1 7011 broad.mit.edu 37 14 20876303 20876303 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:20876303G>C uc001vxe.2 - 2 336 c.296C>G c.(295-297)TCT>TGT p.S99C TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S99C NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 99 TEP1 N-terminal 4. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGTGGGCAGAAACATGTCC 0.552 NA 5 122 0 0 0.000602 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208308 65208308 + Silent SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:65208308A>G uc001xho.1 + 16 2342 c.2073A>G c.(2071-2073)CCA>CCG p.P691P PLEKHG3_uc001xhn.1_Silent_p.P635P|PLEKHG3_uc001xhp.2_Silent_p.P812P|PLEKHG3_uc010aqh.1_Silent_p.P233P|PLEKHG3_uc001xhq.1_Silent_p.P196P NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 691 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CCCCAAGCCCAGGCTGCCCAG 0.577 NA 3 58 0 0 0.000602 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713834 70713834 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:70713834G>A uc010ttg.1 - 1 685 c.34C>T c.(34-36)CGC>TGC p.R12C NR_003951 SubName: Full=ADAM21-like protein; 0 AACTGTTGGCGTGCTACTTCC 0.453 NA 6 60 0 0 0.001168 0 0 CDCA4 55038 broad.mit.edu 37 14 105477868 105477868 + Silent SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:105477868G>C uc001yqa.2 - 2 495 c.399C>G c.(397-399)ACC>ACG p.T133T CDCA4_uc001yqb.2_Silent_p.T133T NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 133 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) CCTGTGCTGAGGTGACTGGGC 0.592 NA 3 53 0 0 0.009096 0 0 TPSD1 23430 broad.mit.edu 37 16 1306674 1306674 + Silent SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:1306674G>T uc002clb.1 + 2 249 c.240G>T c.(238-240)GCG>GCT p.A80A TPSD1_uc010brm.1_Silent_p.A18A NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 80 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TAACCGCGGCGCACTGCGTGG 0.701 NA 7 55 7.48243e-07 9.3693e-07 0.006214 1 0 FAM86A 196483 broad.mit.edu 37 16 5140288 5140288 + Missense_Mutation SNP C C T rs144582297 byFrequency TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:5140288C>T uc002cyo.2 - 6 588 c.539G>A c.(538-540)CGC>CAC p.R180H FAM86A_uc002cyp.2_Missense_Mutation_p.R146H NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 180 0 TGCCCGGGGGCGGCACATCTT 0.607 NA 12 51 0 0 0.013537 0 0 TAOK2 9344 broad.mit.edu 37 16 29994190 29994190 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:29994190G>T uc002dva.1 + 11 1750 c.967G>T c.(967-969)GGC>TGC p.G323C uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.G323C|TAOK2_uc002dvc.1_Missense_Mutation_p.G323C|TAOK2_uc010bzm.1_Missense_Mutation_p.G323C|TAOK2_uc002dvd.1_Missense_Mutation_p.G150C NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 323 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGCACCCAACGGCCCTGGTGC 0.602 NA 15 69 8.34094e-07 1.03543e-06 0.008871 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 NA 3 32 0 0 0.000602 0 0 ZNF423 23090 broad.mit.edu 37 16 49669967 49669967 + Silent SNP C C A rs145829157 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:49669967C>A uc002efs.2 - 5 3394 c.3096G>T c.(3094-3096)ACG>ACT p.T1032T ZNF423_uc010vgn.1_Silent_p.T915T NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1032 C2H2-type 24. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGAGCTCAAGCGTGGAAGTGA 0.597 NA 4 35 4.096e-09 5.56438e-09 0.001168 1 0 TMEM208 29100 broad.mit.edu 37 16 67262440 67262440 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:67262440C>T uc002esi.2 + 4 311 c.205C>T c.(205-207)CAC>TAC p.H69Y LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA NM_014187 NP_054906 Q9BTX3 TM208_HUMAN HSPC171 protein 69 integral to membrane 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCCAGCTACCACTCTATGAG 0.577 NA 6 15 0 0 0.001984 0 0 MYH8 4626 broad.mit.edu 37 17 10295215 10295215 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:10295215C>A uc002gmm.2 - 39 5743 c.5648G>T c.(5647-5649)AGA>ATA p.R1883I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1883 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTCAGCTTGTCTCTTGTATGA 0.378 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 43 136 1.54886e-18 2.37272e-18 0.01441 1 0 MYOCD 93649 broad.mit.edu 37 17 12620700 12620700 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:12620700G>T uc002gnn.2 + 4 514 c.215G>T c.(214-216)TGC>TTC p.C72F MYOCD_uc002gno.2_Missense_Mutation_p.C72F|MYOCD_uc002gnp.1_5'Flank NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 72 RPEL 2. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGAAACAGGTGCAACAGTGCC 0.428 NA 6 29 3.09899e-07 3.94915e-07 0.004482 1 0 RNF213 57674 broad.mit.edu 37 17 78319618 78319618 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:78319618A>G uc002jyh.1 + 4 1925 c.1702A>G c.(1702-1704)ATA>GTA p.I568V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment p.I568L(1) ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AACGGAAGCTATAAGCTGTAT 0.488 NA 16 84 0 0 0.007413 0 0 SMAD4 4089 broad.mit.edu 37 18 48593406 48593406 + Missense_Mutation SNP G G T rs121912580 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr18:48593406G>T uc010xdp.1 + 10 1695 c.1157G>T c.(1156-1158)GGT>GTT p.G386V SMAD4_uc002lfb.3_Missense_Mutation_p.G231V NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 386 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.G386R(5)|p.?(2)|p.G386C(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATAGGCAAAGGTGTGCAGTTG 0.368 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 18 68 1.55469e-16 2.33204e-16 0.00333 1 0 TIMM44 10469 broad.mit.edu 37 19 8002966 8002966 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:8002966G>A uc002miz.2 - 3 260 c.258C>T c.(256-258)GAC>GAT p.D86D TIMM44_uc002mja.2_Translation_Start_Site|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 86 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 TTCTGGCCTCGTCACGGAATT 0.373 NA 7 174 0 0 0.00308 0 0 CYP2A6 1548 broad.mit.edu 37 19 41349784 41349784 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:41349784G>T uc002opl.3 - 9 1423 c.1402C>A c.(1402-1404)CCT>ACT p.P468T NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 468 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) ATGTCCTTAGGTGACTGGGAG 0.572 NA 8 88 2.68362e-12 3.98393e-12 0.013537 1 0 TEX101 83639 broad.mit.edu 37 19 43920682 43920682 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:43920682G>T uc010xwo.1 + 4 561 c.366G>T c.(364-366)CAG>CAT p.Q122H TEX101_uc002owk.2_Missense_Mutation_p.Q140H NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 122 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) GCCTGTCTCAGTTTTGGGAGT 0.483 NA 39 181 2.54354e-34 4.06966e-34 0.009718 1 0 SYMPK 8189 broad.mit.edu 37 19 46319250 46319250 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:46319250C>A uc002pdn.2 - 26 3791 c.3546G>T c.(3544-3546)CCG>CCT p.P1182P RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1182 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAGACGGGGGCGGGCCTGGCC 0.587 NA 4 15 2.0095e-06 2.43166e-06 0.001984 1 0 CRX 1406 broad.mit.edu 37 19 48342874 48342874 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:48342874C>A uc002phq.3 + 4 754 c.550C>A c.(550-552)CCG>ACG p.P184T NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 184 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GGCCTCAGGGCCGTCTCTGAC 0.672 Pancreas(57;461 1196 22201 40716 47188) NA 6 34 1.06961e-07 1.40022e-07 0.00308 1 0 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:53014565G>A uc002pzp.3 + 6 1175 c.931G>A c.(931-933)GGT>AGT p.G311S NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418 NA 3 96 0 0 0.004672 0 0 ZNF761 388561 broad.mit.edu 37 19 53958910 53958910 + Silent SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:53958910A>G uc010eqp.2 + 7 1607 c.1149A>G c.(1147-1149)AAA>AAG p.K383K ZNF761_uc010ydy.1_Silent_p.K329K|ZNF761_uc002qbt.1_Silent_p.K329K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 383 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AACCCTACAAATGTAATGAGT 0.413 NA 5 273 0 0 0.001984 0 0 VN1R1 57191 broad.mit.edu 37 19 57967782 57967782 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:57967782C>T uc002qos.1 - 1 73 c.73G>A c.(73-75)GAT>AAT p.D25N ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 25 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) TCTGAAGAATCAGTAGAATAA 0.343 NA 4 38 0 0 0.000602 0 0 APOB 338 broad.mit.edu 37 2 21234526 21234526 + Silent SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:21234526G>C uc002red.2 - 26 5342 c.5214C>G c.(5212-5214)CTC>CTG p.L1738L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1738 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTCATTTGAGAGCTTAAGTC 0.418 NA 6 243 0 0 0.001984 0 0 IFT172 26160 broad.mit.edu 37 2 27704107 27704107 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:27704107C>A uc002rku.2 - 8 642 c.591G>T c.(589-591)CCG>CCT p.P197P IFT172_uc002rkw.2_Silent_p.P197P|IFT172_uc010yls.1_Silent_p.P176P|IFT172_uc010ezc.2_Silent_p.P197P|IFT172_uc002rkv.2_Silent_p.P197P NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 197 WD 5. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) AGGGTGGACACGGGTGGTTAA 0.483 NA 5 27 1.06961e-07 1.40022e-07 0.00308 1 0 SRBD1 55133 broad.mit.edu 37 2 45774718 45774718 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:45774718T>A uc002rus.2 - 13 1785 c.1709A>T c.(1708-1710)CAT>CTT p.H570L SRBD1_uc010yoc.1_Missense_Mutation_p.H89L NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 570 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TTGTCCACAATGCAAGTAAAC 0.323 NA 7 36 0 0 0.010729 0 0 SRBD1 55133 broad.mit.edu 37 2 45774723 45774723 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:45774723G>A uc002rus.2 - 13 1780 c.1704C>T c.(1702-1704)TAC>TAT p.Y568Y SRBD1_uc010yoc.1_Silent_p.Y87Y NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 568 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CACAATGCAAGTAAACCACAT 0.313 NA 7 33 0 0 0.010729 0 0 ANTXR1 84168 broad.mit.edu 37 2 69330019 69330019 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:69330019G>A uc002sfg.2 + 10 1105 c.749G>A c.(748-750)CGC>CAC p.R250H ANTXR1_uc002sfe.2_Missense_Mutation_p.R250H|ANTXR1_uc002sff.2_Missense_Mutation_p.R250H|ANTXR1_uc002sfd.2_Missense_Mutation_p.R250H|hsa-mir-3126|MI0014143_5'Flank NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 250 Extracellular (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 CGACATGCCCGCAACGTGGAC 0.478 NA Familial_Infantile_Hemangioma 6 239 0 0 0.001984 0 0 MRPL53 116540 broad.mit.edu 37 2 74699360 74699360 + Silent SNP A A T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:74699360A>T uc002sln.2 - 3 365 c.225T>A c.(223-225)ATT>ATA p.I75I CCDC142_uc002slo.2_RNA NM_053050 NP_444278 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 precursor 75 mitochondrion|ribosome 0 CGCCGCGCATAATCAGGCGAT 0.682 NA 5 24 0 0 0.000602 0 0 MRPS5 64969 broad.mit.edu 37 2 95766248 95766248 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:95766248G>A uc002sub.2 - 10 1120 c.902C>T c.(901-903)ACG>ATG p.T301M MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 301 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 CTTGATATGCGTCCTTTTAAA 0.328 NA 3 46 0 0 0.004672 0 0 SCN1A 6323 broad.mit.edu 37 2 166900521 166900521 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:166900521C>T uc010zcz.1 - 11 1719 c.1701G>A c.(1699-1701)AGG>AGA p.R567R SCN1A_uc002udo.3_Silent_p.R436R|SCN1A_uc010fpk.2_Silent_p.R436R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 567 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCTATTTCGCCTTGGTGAAA 0.418 NA 12 48 0 0 0.004007 0 0 HAT1 8520 broad.mit.edu 37 2 172809485 172809485 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:172809485C>T uc002uhi.2 + 4 351 c.275C>T c.(274-276)GCA>GTA p.A92V HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Missense_Mutation_p.A7V NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 92 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) GTTGAATATGCATCTAAAGTT 0.303 NA 4 79 0 0 0.000602 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098809 178098809 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:178098809T>A uc002ulh.3 - 2 791 c.236A>T c.(235-237)GAG>GTG p.E79V NFE2L2_uc002ulg.3_Missense_Mutation_p.E63V|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63V|NFE2L2_uc002uli.3_Missense_Mutation_p.E63V|NFE2L2_uc010fra.2_Missense_Mutation_p.E63V|NFE2L2_uc010frb.2_Missense_Mutation_p.E63V NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTCACCTGTCTCTTCATCTAG 0.438 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 11 50 0 0 0.00245 0 0 TTN 7273 broad.mit.edu 37 2 179456035 179456035 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:179456035C>T uc010zfg.1 - 253 52937 c.52713G>A c.(52711-52713)AAG>AAA p.K17571K uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K11266K|TTN_uc010zfi.1_Silent_p.K11199K|TTN_uc010zfj.1_Silent_p.K11074K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18498 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAAGCAGTTCTTAATGGTAA 0.433 NA 13 402 0 0 0.001855 0 0 FN1 2335 broad.mit.edu 37 2 216296671 216296671 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:216296671C>A uc002vfa.2 - 4 698 c.432G>T c.(430-432)GGG>GGT p.G144G FN1_uc002vfb.2_Silent_p.G144G|FN1_uc002vfc.2_Silent_p.G144G|FN1_uc002vfd.2_Silent_p.G144G|FN1_uc002vfe.2_Silent_p.G144G|FN1_uc002vff.2_Silent_p.G144G|FN1_uc002vfg.2_Silent_p.G144G|FN1_uc002vfh.2_Silent_p.G144G|FN1_uc002vfi.2_Silent_p.G144G|FN1_uc002vfj.2_Silent_p.G144G|FN1_uc002vfl.2_Silent_p.G144G NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 144 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGACTGACCCCCTTCATGGC 0.448 NA 19 86 1.50039e-11 2.18239e-11 0.012319 1 0 SPHKAP 80309 broad.mit.edu 37 2 228856017 228856017 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:228856017G>A uc002vpq.2 - 10 4794 c.4747C>T c.(4747-4749)CTT>TTT p.L1583F SPHKAP_uc002vpp.2_Missense_Mutation_p.L1554F|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1583 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCCTTTAAGAATCTTCTTT 0.413 NA 8 84 0 0 0.004482 0 0 ADAM33 80332 broad.mit.edu 37 20 3651739 3651739 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:3651739G>A uc002wit.2 - 19 2241 c.2154C>T c.(2152-2154)GCC>GCT p.A718A ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.A718A|ADAM33_uc002wis.2_Silent_p.A214A|ADAM33_uc002wiu.2_Silent_p.A692A|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_RNA NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 718 Helical; (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 AGGCCAGGCCGGCCCCTGGGA 0.677 NA 3 7 0 0 0.004672 0 0 C20orf26 26074 broad.mit.edu 37 20 20172016 20172016 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:20172016G>A uc002wru.2 + 15 1619 c.1543G>A c.(1543-1545)GAA>AAA p.E515K C20orf26_uc010zse.1_Missense_Mutation_p.E495K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 515 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) ATTTGTAGCTGAAGTTGCAGA 0.343 NA 14 78 0 0 0.008871 0 0 C20orf132 140699 broad.mit.edu 37 20 35769666 35769666 + Missense_Mutation SNP T T C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:35769666T>C uc010zvu.1 - 14 1508 c.1417A>G c.(1417-1419)ACA>GCA p.T473A C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.T473A|C20orf132_uc002xgn.2_Missense_Mutation_p.T438A NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 348 0 Myeloproliferative disorder(115;0.00878) GTATCAAATGTAGTCATTATA 0.378 NA 4 5 0 0 0.000602 0 0 CDH4 1002 broad.mit.edu 37 20 60504878 60504878 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:60504878C>T uc002ybn.1 + 13 2231 c.2217C>T c.(2215-2217)CTC>CTT p.L739L CDH4_uc002ybp.1_Silent_p.L665L NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 739 Helical; (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TGGCCATCCTCATCTGCATCC 0.622 NA 18 62 0 0 0.012319 0 0 MRAP 56246 broad.mit.edu 37 21 33684278 33684278 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr21:33684278G>A uc002ypj.2 + 5 677 c.490G>A c.(490-492)GGA>AGA p.G164R MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Missense_Mutation_p.G105R|MRAP_uc002ypl.2_Missense_Mutation_p.G164R NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 164 Extracellular (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 GCCTCCCCCTGGAGACAGGAC 0.582 NA 15 59 0 0 0.007413 0 0 SCN10A 6336 broad.mit.edu 37 3 38763897 38763897 + Missense_Mutation SNP A A T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:38763897A>T uc003ciq.2 - 19 3359 c.3359T>A c.(3358-3360)ATT>AAT p.I1120N NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1120 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACAGTGGCGAATGCATCCTGT 0.562 NA 29 177 0 0 0.00623 0 0 LTF 4057 broad.mit.edu 37 3 46486797 46486797 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:46486797G>T uc003cpq.2 - 12 1526 c.1488C>A c.(1486-1488)TTC>TTA p.F496L LTF_uc003fzr.2_Missense_Mutation_p.F452L|LTF_uc010hjh.2_Missense_Mutation_p.F494L|LTF_uc003cpr.2_Missense_Mutation_p.F483L NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 496 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CCGTCTGGTTGAAGAGCAGGC 0.567 NA 6 96 0.000157383 0.000177056 0.00308 1 0 SETD2 29072 broad.mit.edu 37 3 47103738 47103738 + Nonsense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:47103738G>A uc003cqs.2 - 14 6261 c.6208C>T c.(6208-6210)CAA>TAA p.Q2070* SETD2_uc003cqv.2_Nonsense_Mutation_p.Q2137*|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2070 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTTTATTTTGAGTTTGCTTG 0.493 NA N|F|S|Mis clear cell renal carcinoma 29 168 0 0 0.010818 0 0 SETD2 29072 broad.mit.edu 37 3 47158197 47158197 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:47158197C>G uc003cqs.2 - 4 4555 c.4502G>C c.(4501-4503)TGT>TCT p.C1501S SETD2_uc003cqv.2_Missense_Mutation_p.C1490S NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1501 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGAGGTGTACACTCACACTG 0.318 NA N|F|S|Mis clear cell renal carcinoma 16 71 0 0 0.00499 0 0 MAP4 4134 broad.mit.edu 37 3 47958225 47958225 + Silent SNP T T C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:47958225T>C uc003csb.2 - 7 1618 c.1092A>G c.(1090-1092)TTA>TTG p.L364L MAP4_uc003csc.3_Silent_p.L364L|MAP4_uc011bbf.1_Silent_p.L341L|MAP4_uc003csf.3_Silent_p.L381L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 364 26 residues 1.|17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGGGCTAAGTCCATTT 0.478 NA 3 155 0 0 0.004672 0 0 HYAL3 8372 broad.mit.edu 37 3 50332964 50332964 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:50332964G>T uc003czd.1 - 2 343 c.70C>A c.(70-72)CCA>ACA p.P24T HYAL3_uc003czc.1_Missense_Mutation_p.P24T|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.P24T NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 24 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGGACCTGTGGTAGGGGCTGG 0.627 NA 9 40 0.000274275 0.000306168 0.004482 1 0 TEX264 51368 broad.mit.edu 37 3 51718507 51718507 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:51718507G>T uc010hls.2 + 4 506 c.337G>T c.(337-339)GAC>TAC p.D113Y TEX264_uc003dbk.3_Missense_Mutation_p.D113Y|TEX264_uc010hlt.2_5'UTR|TEX264_uc003dbl.3_Missense_Mutation_p.D113Y|TEX264_uc003dbm.3_Missense_Mutation_p.D152Y NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 113 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TGAGCTCATCGACCTCTACCA 0.582 NA 11 47 7.03913e-09 9.47322e-09 0.013537 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54919551 54919551 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:54919551G>A uc003dhf.2 + 23 2042 c.1994G>A c.(1993-1995)CGC>CAC p.R665H CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R571H|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R399H|uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 665 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCTGAGCACCGCCATCTGTCT 0.473 NA 7 25 0 0 0.008291 0 0 ZNF595 152687 broad.mit.edu 37 4 86669 86669 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:86669G>A uc003fzv.1 + 6 1431 c.1275G>A c.(1273-1275)ACG>ACA p.T425T ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Silent_p.T193T|ZNF595_uc011but.1_Silent_p.T193T NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 425 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AACCCTACACGTGCGAAGAAT 0.393 NA 3 39 0 0 0.004672 0 0 ZNF595 152687 broad.mit.edu 37 4 86672 86672 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:86672C>T uc003fzv.1 + 6 1434 c.1278C>T c.(1276-1278)TGC>TGT p.C426C ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Silent_p.C194C|ZNF595_uc011but.1_Silent_p.C194C NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 426 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CCTACACGTGCGAAGAATGTG 0.388 NA 3 42 0 0 0.004672 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322915 4322915 + Missense_Mutation SNP G G T rs145779018 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:4322915G>T uc003ghu.2 + 8 2345 c.2170G>T c.(2170-2172)GGT>TGT p.G724C uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.G207C|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.G302C NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 724 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CAACCACGGCGGTGACCCCCT 0.587 NA 6 35 0.00116845 0.00126508 0.001168 1 0 MOBKL1A 92597 broad.mit.edu 37 4 71824700 71824700 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:71824700C>T uc003hfw.2 + 2 314 c.124C>T c.(124-126)CGG>TGG p.R42W MOBKL1A_uc003hfv.1_Missense_Mutation_p.R42W|MOBKL1A_uc011cba.1_Missense_Mutation_p.R47W NM_173468 NP_775739 Q7L9L4 MOL1A_HUMAN MOB1, Mps One Binder kinase activator-like 1A 42 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding 0 all_hematologic(202;0.21) Lung(101;0.235) TGGCAACCTTCGGATGGCTGT 0.433 NA 10 28 0 0 0.013537 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913125 170913125 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:170913125T>A uc003isp.3 - 3 812 c.634A>T c.(634-636)ACC>TCC p.T212S MFAP3L_uc003isn.3_Missense_Mutation_p.T109S NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 212 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TTGGCGGAGGTGATGATGGGG 0.532 NA 11 55 0 0 0.010729 0 0 VEGFC 7424 broad.mit.edu 37 4 177648996 177648996 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:177648996C>A uc003ius.1 - 3 918 c.488G>T c.(487-489)GGG>GTG p.G163V NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 163 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GCAGCAACCCCCACATCTGTA 0.547 NA 20 109 1.87028e-06 2.28238e-06 0.012319 1 0 SPEF2 79925 broad.mit.edu 37 5 35793372 35793372 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:35793372G>C uc003jjo.2 + 32 4777 c.4666G>C c.(4666-4668)GAG>CAG p.E1556Q SPEF2_uc003jjp.1_Missense_Mutation_p.E1042Q|SPEF2_uc003jjr.2_Missense_Mutation_p.E611Q NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1556 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGCTCCTTGAGACCCTTCA 0.483 NA 13 77 0 0 0.003163 0 0 PRRC1 133619 broad.mit.edu 37 5 126874745 126874745 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:126874745G>A uc003kuk.2 + 7 1115 c.935G>A c.(934-936)CGG>CAG p.R312Q PRRC1_uc003kuj.3_Missense_Mutation_p.R312Q NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 312 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GCTCAGGAACGGATAGATAGC 0.373 NA 6 83 0 0 0.001984 0 0 AFF4 27125 broad.mit.edu 37 5 132232334 132232334 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:132232334G>A uc003kyd.2 - 11 2396 c.1988C>T c.(1987-1989)TCA>TTA p.S663L AFF4_uc011cxk.1_Missense_Mutation_p.S341L|AFF4_uc003kye.1_Missense_Mutation_p.S663L NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 663 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGAGTTTGTGAGGAAGGAGG 0.428 Ovarian(126;889 1733 2942 10745 11605) NA 17 66 0 0 0.010504 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480999 140480999 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140480999C>T uc003lio.2 + 1 766 c.766C>T c.(766-768)CCC>TCC p.P256S uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 256 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGAATACCCCCGTTAACTC 0.428 NA 9 99 0 0 0.010729 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563505 140563505 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140563505C>A uc003liv.2 + 1 2526 c.1371C>A c.(1369-1371)ACC>ACA p.T457T PCDHB16_uc010jfw.1_Silent_p.T129T NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 457 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTACACCCTGTTCGTCC 0.567 NA 27 157 6.97489e-18 1.05725e-17 0.004878 1 0 PCDHB13 56123 broad.mit.edu 37 5 140594640 140594640 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140594640C>A uc003lja.1 + 1 1132 c.945C>A c.(943-945)TCC>TCA p.S315S NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 315 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTTCAGTCCTATGAAGTCA 0.388 NA 9 100 2.61681e-11 3.76821e-11 0.00245 1 0 FAT2 2196 broad.mit.edu 37 5 150920132 150920132 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:150920132G>T uc003lue.3 - 10 9048 c.9035C>A c.(9034-9036)TCA>TAA p.S3012* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3012 Extracellular (Potential).|Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCACCTGTGAACACTGTGG 0.383 NA 4 26 0.00909568 0.00956042 0.009096 1 0 IL12B 3593 broad.mit.edu 37 5 158743806 158743806 + Missense_Mutation SNP C C A rs150030340 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:158743806C>A uc003lxr.1 - 7 916 c.874G>T c.(874-876)GAC>TAC p.D292Y NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 292 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGGTCTTGTCCGTGAAGACT 0.512 NA OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 65 2.23348e-06 2.68018e-06 0.004007 1 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216578 26216578 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:26216578G>A uc003ngz.2 - 1 295 c.294C>T c.(292-294)GCC>GCT p.A98A HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 98 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GCAGACGCACGGCGGTCTGGA 0.572 NA 4 121 0 0 0.001168 0 0 C6orf221 154288 broad.mit.edu 37 6 74073285 74073285 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:74073285G>C uc003pgt.3 + 3 409 c.356G>C c.(355-357)GGA>GCA p.G119A NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 119 skin(2) 2 CCAGGCTCAGGAAAGGCCCTC 0.617 NA 8 58 0 0 0.008291 0 0 FRK 2444 broad.mit.edu 37 6 116264242 116264242 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:116264242A>G uc003pwi.1 - 7 1694 c.1247T>C c.(1246-1248)GTA>GCA p.V416A NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 416 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAATGACCATACATCGGACTT 0.398 NA 5 55 0 0 0.001168 0 0 GRM1 2911 broad.mit.edu 37 6 146351216 146351216 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:146351216C>A uc010khw.1 + 2 1033 c.563C>A c.(562-564)ACA>AAA p.T188K GRM1_uc010khu.1_Missense_Mutation_p.T188K|GRM1_uc010khv.1_Missense_Mutation_p.T188K|GRM1_uc003qll.2_Missense_Mutation_p.T188K|GRM1_uc011edz.1_Missense_Mutation_p.T188K|GRM1_uc011eea.1_Missense_Mutation_p.T188K NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 188 Extracellular (Potential). Glutamate (By similarity). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TATTCAGCCACAAGCATCGAC 0.522 NA 6 124 0.00307968 0.00328499 0.00308 1 0 KATNA1 11104 broad.mit.edu 37 6 149944338 149944338 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:149944338G>A uc003qmr.1 - 3 447 c.402C>T c.(400-402)GTC>GTT p.V134V KATNA1_uc003qms.2_Silent_p.V134V|KATNA1_uc003qmt.2_Silent_p.V134V|KATNA1_uc011eed.1_Silent_p.V134V NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 134 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GGTGAACTCTGACAGTTGTAC 0.423 NA 6 83 0 0 0.00308 0 0 BZW2 28969 broad.mit.edu 37 7 16744259 16744259 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:16744259A>G uc003stl.2 + 11 1374 c.1196A>G c.(1195-1197)AAG>AGG p.K399R BZW2_uc003stm.2_Missense_Mutation_p.K205R|BZW2_uc003stj.2_Missense_Mutation_p.K399R|BZW2_uc003stk.2_Missense_Mutation_p.K323R|BZW2_uc003stp.2_Missense_Mutation_p.K247R|BZW2_uc010kua.2_Intron NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 399 W2. cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) GACCAGATGAAGAAATTTGTT 0.328 NA 12 40 0 0 0.001855 0 0 FZD9 8326 broad.mit.edu 37 7 72849738 72849738 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72849738C>A uc003tyb.2 + 1 1630 c.1401C>A c.(1399-1401)GTC>GTA p.V467V NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 467 Helical; Name=6; (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) TTTGCTATGTCTACGAACGCC 0.642 Pancreas(144;909 1878 36867 38226 39554) NA 5 20 8.12818e-05 9.21621e-05 0.001984 1 0 TBL2 26608 broad.mit.edu 37 7 72988330 72988330 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72988330G>A uc003tyh.2 - 3 518 c.384C>T c.(382-384)CGC>CGT p.R128R TBL2_uc011kex.1_Silent_p.R92R|TBL2_uc010lbg.2_Silent_p.R33R|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_Silent_p.R33R NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 128 0 Lung NSC(55;0.0659)|all_lung(88;0.152) CTCTCATGCTGCGGTGCTCTC 0.602 NA 18 79 0 0 0.012319 0 0 SEMA3C 10512 broad.mit.edu 37 7 80374432 80374432 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:80374432G>A uc003uhj.2 - 18 2596 c.2034C>T c.(2032-2034)ACC>ACT p.T678T SEMA3C_uc011kgw.1_Silent_p.T696T NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 678 immune response|response to drug membrane receptor activity ovary(1) 1 AGCTGGCCCAGGTCCATGGGG 0.463 NA 16 63 0 0 0.00499 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95625311 95625311 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:95625311G>T uc003uoc.3 + 10 1223 c.946G>T c.(946-948)GAA>TAA p.E316* DYNC1I1_uc003uod.3_Nonsense_Mutation_p.E299*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.E279*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.E296*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.E305* NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 316 WD 1. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGCTCCCCATGAACCAGATGG 0.428 NA 8 131 0.00307968 0.00328499 0.00308 1 0 RELN 5649 broad.mit.edu 37 7 103138348 103138348 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:103138348C>T uc003vca.2 - 55 9029 c.8869G>A c.(8869-8871)GGT>AGT p.G2957S RELN_uc010liz.2_Missense_Mutation_p.G2957S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2957 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCTCACTACCGATGCGCCCC 0.468 NSCLC(146;835 1944 15585 22231 52158) NA 5 69 0 0 0.000602 0 0 PTK2B 2185 broad.mit.edu 37 8 27289812 27289812 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr8:27289812C>T uc003xfn.1 + 15 1729 c.921C>T c.(919-921)TCC>TCT p.S307S PTK2B_uc003xfo.1_Silent_p.S307S|PTK2B_uc003xfp.1_Silent_p.S307S|PTK2B_uc003xfq.1_Silent_p.S307S|PTK2B_uc010luq.1_Silent_p.S78S|PTK2B_uc003xfr.1_Silent_p.S53S NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 307 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGATCAGGTCCATCAGGTGCC 0.617 NA 5 46 0 0 0.006214 0 0 SCARA5 286133 broad.mit.edu 37 8 27823930 27823930 + Splice_Site SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr8:27823930C>G uc003xgj.2 - 3 681 c.241_splice c.e3+1 p.V81_splice SCARA5_uc010luz.2_Splice_Site_p.G81_splice|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Splice_Site_p.V81_splice NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CCTGCTCTTACCTGCTAAGAT 0.542 NA 11 36 0 0 0.010729 0 0 JAK2 3717 broad.mit.edu 37 9 5054630 5054630 + Nonsense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:5054630C>T uc010mhm.2 + 6 795 c.682C>T c.(682-684)CGA>TGA p.R228* JAK2_uc003ziw.2_Nonsense_Mutation_p.R228* NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 228 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GACAAGGAAGCGAATAAGGTA 0.348 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 12 126 0 0 0.00245 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976631 34976631 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:34976631C>T uc003zvq.2 + 5 921 c.743C>T c.(742-744)GCG>GTG p.A248V KIAA1045_uc003zvr.2_Missense_Mutation_p.A248V NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 248 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) GAAGAGCAGGCGGCCCGCCAG 0.612 NA 4 69 0 0 0.001168 0 0 TMEM2 23670 broad.mit.edu 37 9 74360430 74360430 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:74360430G>T uc011lsa.1 - 4 1078 c.538C>A c.(538-540)CTG>ATG p.L180M TMEM2_uc010mos.2_Missense_Mutation_p.L180M|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 180 G8. integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCCTGGATCAGGATGTAATGA 0.438 NA 13 91 2.31682e-05 2.6905e-05 0.003163 1 0 ZNF510 22869 broad.mit.edu 37 9 99521573 99521573 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:99521573C>G uc004awn.1 - 6 1728 c.1539G>C c.(1537-1539)GAG>GAC p.E513D ZNF510_uc004awo.1_Missense_Mutation_p.E513D NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GAAAGGATTTCTCCCCTGTGT 0.408 NA 5 239 0 0 0.001168 0 0 BARHL1 56751 broad.mit.edu 37 9 135464783 135464783 + Silent SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:135464783G>T uc004cbp.1 + 3 1050 c.858G>T c.(856-858)CCG>CCT p.P286P NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 286 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CCAGCGCGCCGCCGCCTGCTC 0.721 NA 4 34 0.000602214 0.000661976 0.000602 1 0 CACNA1B 774 broad.mit.edu 37 9 140953545 140953545 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:140953545C>T uc004cog.2 + 30 4633 c.4488C>T c.(4486-4488)CCC>CCT p.P1496P CACNA1B_uc011mfd.1_Silent_p.P1026P|CACNA1B_uc004coi.2_Silent_p.P710P NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1496 IV.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ATGATGCACCCTATGAGTACG 0.542 NA 5 30 0 0 0.001984 0 0 SCML2 10389 broad.mit.edu 37 X 18275064 18275064 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:18275064G>A uc004cyl.2 - 11 1517 c.1360C>T c.(1360-1362)CAC>TAC p.H454Y SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 454 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TGCAGACTGTGGCAGAAGTTC 0.468 Esophageal Squamous(100;1252 1965 19021 35517) NA 9 154 0 0 0.008291 0 0 FAM47B 170062 broad.mit.edu 37 X 34962077 34962077 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:34962077C>A uc004ddi.1 + 1 1147 c.1129C>A c.(1129-1131)CCT>ACT p.P377T NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 377 ovary(3)|breast(1) 4 ACTCACCAAGCCTGGTAAATA 0.537 NA 12 39 1.49906e-05 1.755e-05 0.00245 1 0 CACNA1F 778 broad.mit.edu 37 X 49066186 49066186 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:49066186G>A uc004dnb.2 - 41 4819 c.4757C>T c.(4756-4758)ACA>ATA p.T1586I CACNA1F_uc010nip.2_Missense_Mutation_p.T1575I NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1586 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GATCAGAAATGTGGCGTAGAA 0.592 NA 6 31 0 0 0.00308 0 0 AKAP4 8852 broad.mit.edu 37 X 49962221 49962221 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:49962221G>T uc004dow.1 - 3 272 c.148C>A c.(148-150)CTG>ATG p.L50M AKAP4_uc004dov.1_Missense_Mutation_p.L41M|AKAP4_uc010njp.1_Translation_Start_Site|AKAP4_uc004dou.1_Missense_Mutation_p.L41M NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 50 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TCTACATTCAGGGTGGACACA 0.378 NA 5 49 1.12685e-05 1.34105e-05 0.004482 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83372087 83372087 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:83372087C>A uc004eej.1 - 11 1007 c.930G>T c.(928-930)AGG>AGT p.R310S RPS6KA6_uc011mqt.1_Missense_Mutation_p.R310S|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R207S NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 310 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TTGCTGGATTCCTTTTGAATA 0.323 NA 13 34 1.3612e-06 1.67533e-06 0.003163 1 0 DOCK11 139818 broad.mit.edu 37 X 117707926 117707926 + Nonsense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:117707926C>A uc004eqp.2 + 12 1397 c.1334C>A c.(1333-1335)TCA>TAA p.S445* DOCK11_uc004eqq.2_Nonsense_Mutation_p.S211* NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 445 blood coagulation cytosol GTP binding ovary(3) 3 AAGGGCTCTTCACCCGAATCT 0.468 NA 19 67 9.57634e-11 1.36534e-10 0.00333 1 0 GPR112 139378 broad.mit.edu 37 X 135430454 135430454 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:135430454A>G uc004ezu.1 + 6 4880 c.4589A>G c.(4588-4590)GAC>GGC p.D1530G GPR112_uc010nsb.1_Missense_Mutation_p.D1325G|GPR112_uc010nsc.1_Missense_Mutation_p.D1297G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1530 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AAAGTTTCTGACACTCCCCCA 0.433 NA 3 102 0 0 0.000602 0 0 FBXO22 26263 broad.mit.edu 37 15 76225419 76225422 + Frame_Shift_Del DEL CATA CATA - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 CATA CATA - - CATA CATA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr15:76225419_76225422delCATA uc002bbk.2 + 7 1293_1296 c.1188_1191delCATA c.(1186-1191)CTCATAfs p.L396fs FBXO22_uc002bbl.2_Frame_Shift_Del_p.L292fs|FBXO22OS_uc002bbm.1_RNA NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 396_397 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 TAATGGCACTCATACATCTGGGGT 0.343 NA 8 95 --- --- --- --- NA NA NA NA NA LONP2 83752 broad.mit.edu 37 16 48382016 48382016 + Frame_Shift_Del DEL G G - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:48382016delG uc002efi.1 + 14 2241 c.2152delG c.(2152-2154)GGAfs p.G718fs LONP2_uc002efj.1_Frame_Shift_Del_p.G674fs NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 718 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 TAAAGCTTTTGGAAGTTTTGA 0.358 NA 11 70 --- --- --- --- NA NA NA NA NA CLOCK 9575 broad.mit.edu 37 4 56316293 56316305 + Frame_Shift_Del DEL CTTGAACTCCGAG CTTGAACTCCGAG - rs148913372 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 CTTGAACTCCGAG CTTGAACTCCGAG - - CTTGAACTCCGAG CTTGAACTCCGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:56316293_56316305delCTTGAACTCCGAG uc003haz.1 - 17 2227_2239 c.1301_1313delCTCGGAGTTCAAG c.(1300-1314)TCTCGGAGTTCAAGAfs p.S434fs CLOCK_uc003hba.1_Frame_Shift_Del_p.S434fs|CLOCK_uc010igu.1_5'Flank NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 434_438 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AGATGATTTTCTTGAACTCCGAGAAGAGGCAGA 0.432 NA 7 71 --- --- --- --- NA NA NA NA NA FSTL5 56884 broad.mit.edu 37 4 162376268 162376268 + Frame_Shift_Del DEL C C - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:162376268delC uc003iqh.2 - 15 2165 c.1729delG c.(1729-1731)GCCfs p.A577fs FSTL5_uc003iqi.2_Frame_Shift_Del_p.A576fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.A567fs NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 577 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCCACTGGCCAGGGTAATT 0.398 NA 17 82 --- --- --- --- NA NA NA NA NA LSM11 134353 broad.mit.edu 37 5 157171203 157171203 + Frame_Shift_Del DEL C C - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:157171203delC uc003lxe.1 + 1 449 c.445delC c.(445-447)CCCfs p.P149fs NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 149 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACGCGAATGCCCTGTGAGTC 0.761 NA 2 4 --- --- --- --- NA NA NA NA NA SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:25921520delT uc011dkb.1 - 3 444 c.361delA c.(361-363)ATGfs p.M121fs SLC17A2_uc011dkc.1_Frame_Shift_Del_p.M121fs|SLC17A2_uc003nfl.2_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 GCACCAAGCATTTTTTTTGCT 0.453 NA 8 120 --- --- --- --- NA NA NA NA NA TRA2A 29896 broad.mit.edu 37 7 23547133 23547135 + In_Frame_Del DEL TTC TTC - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 TTC TTC - - TTC TTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:23547133_23547135delTTC uc003swi.2 - 5 759_761 c.545_547delGAA c.(544-549)GGAATG>GTG p.182_183GM>V TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_In_Frame_Del_p.81_82GM>V|TRA2A_uc011jzd.1_In_Frame_Del_p.81_82GM>V NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 182_183 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 TCCAGCTCCATTCCATTTGCCCT 0.404 Pancreas(121;2137 2973 46590) NA 7 196 --- --- --- --- NA NA NA NA NA GTF2IRD2P1 401375 broad.mit.edu 37 7 72664019 72664020 + Translation_Start_Site INS - - T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72664019_72664020insT uc003txs.1 - 11 881_882 c.-47_-46insA c.(-49--44)ATGCCC>ATGACCC FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 CACCCCCGGGGCATGCCATCAA 0.505 NA 2 4 --- --- --- --- NA NA NA NA NA