Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut LRIG2 9860 broad.mit.edu 37 1 113616160 113616160 + Silent SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:113616160C>G uc001edf.1 + 1 330 c.132C>G c.(130-132)CCC>CCG p.P44P LRIG2_uc009wgn.1_5'UTR|uc001ede.1_5'Flank NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 44 LRRNT.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GTCTCTGCCCCGCGCCCTGCT 0.657 NA OREG0013684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 206 0 0 0 0 IL6R 3570 broad.mit.edu 37 1 154407116 154407116 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:154407116G>A uc001fez.1 + 4 1017 c.580G>A c.(580-582)GTC>ATC p.V194I IL6R_uc001ffa.1_Missense_Mutation_p.V194I NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 194 Extracellular (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity p.V194I(1) ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTCCATGTGCGTCGCCAGTAG 0.532 NA 6 159 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 167906205 167906205 + Missense_Mutation SNP T T C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:167906205T>C uc001gew.2 + 1 298 c.56T>C c.(55-57)CTC>CCC p.L19P BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Missense_Mutation_p.L19P|DCAF6_uc001gex.2_Missense_Mutation_p.L19P|DCAF6_uc010plk.1_Missense_Mutation_p.L19P NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 19 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAAGGTCCCTCGGGCTGGAG 0.721 NA 3 23 0 0 0 0 ZNF238 10472 broad.mit.edu 37 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:244217659C>T uc001iae.2 + 1 1078 c.556C>T c.(556-558)CGA>TGA p.R186* ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186* NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 186 KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CATGTGGATGCGATTGCCCTC 0.572 NA 7 74 0 0 0 0 ASCL3 56676 broad.mit.edu 37 11 8959494 8959494 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:8959494C>T uc001mhd.1 - 2 275 c.215G>A c.(214-216)TGC>TAC p.C72Y NM_020646 NP_065697 Q9NQ33 ASCL3_HUMAN ASCL3 71 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding 0 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGAGAAGGGGCAGGGTTCACT 0.577 NA 6 77 0 0 0 0 FJX1 24147 broad.mit.edu 37 11 35640755 35640755 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:35640755G>A uc001mwh.2 + 1 1021 c.571G>A c.(571-573)GAG>AAG p.E191K NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 191 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GATTCAGGGCGAGGCCCTGTC 0.731 NA 7 25 0 0 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564921 46564921 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:46564921C>T uc010rgu.1 - 7 1006 c.646G>A c.(646-648)GAT>AAT p.D216N AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.D216N|AMBRA1_uc001ncu.1_Missense_Mutation_p.D216N|AMBRA1_uc001ncv.2_Missense_Mutation_p.D216N|AMBRA1_uc001ncw.2_Missense_Mutation_p.D216N|AMBRA1_uc001ncx.2_Missense_Mutation_p.D216N NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 216 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TCTGTTCCATCTATGGGGATC 0.542 NA 16 98 0 0 0 0 OR4A16 81327 broad.mit.edu 37 11 55111250 55111250 + Missense_Mutation SNP T T A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:55111250T>A uc010rie.1 + 1 574 c.574T>A c.(574-576)TTT>ATT p.F192I NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TGACACCTACTTTATAGGACT 0.423 NA 7 145 0 0 0 0 TIGD3 220359 broad.mit.edu 37 11 65124576 65124576 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:65124576G>A uc001odo.3 + 2 1460 c.1297G>A c.(1297-1299)GAT>AAT p.D433N NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 433 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CACCAAAGCTGATGCCCTCCG 0.562 NA 12 109 0 0 0 0 PELI3 246330 broad.mit.edu 37 11 66238754 66238754 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:66238754G>A uc001oic.3 + 4 430 c.266G>A c.(265-267)CGA>CAA p.R89Q PELI3_uc001oib.2_Missense_Mutation_p.R89Q|PELI3_uc001oid.3_Missense_Mutation_p.R65Q|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 89 cytosol protein binding ovary(1) 1 GGCCGCCGGCGAAGCCGCCTG 0.597 NA 6 184 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7044927 7044927 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:7044927C>G uc001qrw.1 + 5 734 c.497C>G c.(496-498)CCT>CGT p.P166R ATN1_uc001qrx.1_Missense_Mutation_p.P166R|ATN1_uc001qry.1_Missense_Mutation_p.P165R NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 166 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCACTCTTTCCTCCTTCCCCT 0.592 NA 4 149 0 0 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42854281 42854281 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:42854281G>A uc010skv.1 - 8 2113 c.1826C>T c.(1825-1827)CCT>CTT p.P609L PRICKLE1_uc001rnl.2_Missense_Mutation_p.P609L|PRICKLE1_uc010skw.1_Missense_Mutation_p.P609L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P609L|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 609 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTTCTCTTCAGGCAGGATTTT 0.463 NA 5 111 0 0 0 0 ACCN2 41 broad.mit.edu 37 12 50472360 50472360 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:50472360G>A uc001rvw.2 + 6 1223 c.994G>A c.(994-996)GGG>AGG p.G332R ACCN2_uc001rvv.2_Missense_Mutation_p.G332R|ACCN2_uc009zln.2_Missense_Mutation_p.G123R|ACCN2_uc009zlo.2_Missense_Mutation_p.G332R NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 332 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) GCACATGCCAGGTCAGGCCTG 0.592 NA 4 131 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31362283 31362283 + Missense_Mutation SNP G G T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr15:31362283G>T uc001zfm.2 - 3 292 c.164C>A c.(163-165)TCC>TAC p.S55Y TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.S55Y|uc010ubn.1_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 55 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AACTCCATAGGAATCTGTTGG 0.483 NA 12 557 2.27e-07 6.1e-07 1 0 ZNF780B 163131 broad.mit.edu 37 19 40540672 40540672 + Silent SNP T T A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr19:40540672T>A uc002omu.2 - 5 2159 c.2094A>T c.(2092-2094)GTA>GTT p.V698V ZNF780B_uc002omv.2_Silent_p.V550V NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 698 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACTCCTTACATACAAAGGGTT 0.388 NA 10 137 0 0 0 0 DOK1 1796 broad.mit.edu 37 2 74783609 74783609 + Missense_Mutation SNP G G C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr2:74783609G>C uc002sms.2 + 5 836 c.814G>C c.(814-816)GGG>CGG p.G272R LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G133R|DOK1_uc010ffo.2_Missense_Mutation_p.G133R|DOK1_uc002smt.2_Missense_Mutation_p.G58R|DOK1_uc002smu.2_Missense_Mutation_p.G58R|DOK1_uc010yrz.1_Missense_Mutation_p.G261R|DOK1_uc002smv.2_Missense_Mutation_p.G133R|DOK1_uc002smw.1_Missense_Mutation_p.G58R NM_001381 NP_001372 Q99704 DOK1_HUMAN docking protein 1 272 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding 0 CTCCCATGAAGGGGAGGTGGC 0.612 NA 4 91 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32502548 32502548 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr21:32502548C>G uc002yow.1 - 26 4500 c.4028G>C c.(4027-4029)CGA>CCA p.R1343P TIAM1_uc011adk.1_Missense_Mutation_p.R1343P|TIAM1_uc011adl.1_Missense_Mutation_p.R1283P NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1343 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CGCCAAAGCTCGAACCTGCAG 0.483 NA 3 214 0 0 0 0 DEPDC5 9681 broad.mit.edu 37 22 32289633 32289633 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr22:32289633C>G uc003als.2 + 38 4148 c.4006C>G c.(4006-4008)CTG>GTG p.L1336V DEPDC5_uc011als.1_Missense_Mutation_p.L1267V|DEPDC5_uc011alu.1_Missense_Mutation_p.L1367V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.L1358V|DEPDC5_uc003alu.2_Missense_Mutation_p.L785V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.L634V|DEPDC5_uc011alx.1_Missense_Mutation_p.L184V|DEPDC5_uc010gwk.2_Missense_Mutation_p.L362V|DEPDC5_uc011aly.1_Missense_Mutation_p.L184V NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1336 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CACAGACCGGCTGGAGTGGTG 0.557 NA 5 59 0 0 0 0 CCDC80 151887 broad.mit.edu 37 3 112324348 112324348 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr3:112324348G>A uc003dzf.2 - 8 2987 c.2769C>T c.(2767-2769)TAC>TAT p.Y923Y CCDC80_uc011bhv.1_Silent_p.Y896Y|CCDC80_uc003dzg.2_Silent_p.Y923Y NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 923 ovary(2) 2 GGTAACTATGGTAACCATAGC 0.463 NA 4 83 0 0 0 0 SOX2 6657 broad.mit.edu 37 3 181430843 181430843 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr3:181430843C>T uc003fkx.2 + 1 1122 c.695C>T c.(694-696)ACC>ATC p.T232I SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN sex-determining region Y-box 2 232 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) CAGCAGGGCACCCCTGGCATG 0.642 NA A NSCLC|oesophageal squamous carcinoma MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 7 71 0 0 0 0 GAK 2580 broad.mit.edu 37 4 861163 861163 + Missense_Mutation SNP G G C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:861163G>C uc003gbm.3 - 21 2652 c.2453C>G c.(2452-2454)GCC>GGC p.A818G GAK_uc003gbn.3_Missense_Mutation_p.A739G|GAK_uc010ibk.1_Missense_Mutation_p.A712G|GAK_uc010ibi.2_5'UTR|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A682G NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 818 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CTCCATCAGGGCAGACTCGCT 0.597 NA 5 128 0 0 0 0 CAMK2D 817 broad.mit.edu 37 4 114680566 114680566 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:114680566C>T uc003ibi.2 - 2 929 c.70G>A c.(70-72)GCA>ACA p.A24T CAMK2D_uc003ibj.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibk.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibo.3_Missense_Mutation_p.A24T|CAMK2D_uc003ibm.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibn.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibl.2_Missense_Mutation_p.A24T NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 24 ATP (By similarity).|Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ACTGAGAATGCCCCCCTGGAA 0.318 NA 4 87 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147970 123147970 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:123147970C>T uc003ieh.2 + 22 2947 c.2902C>T c.(2902-2904)CGT>TGT p.R968C KIAA1109_uc003iei.1_Missense_Mutation_p.R721C|KIAA1109_uc010ins.1_Missense_Mutation_p.R311C|KIAA1109_uc003iej.1_3'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 968 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGGAATTGATCGTCGGTTCTG 0.338 NA 5 74 0 0 0 0 C6 729 broad.mit.edu 37 5 41159281 41159281 + Nonsense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr5:41159281G>A uc003jmk.2 - 12 1969 c.1759C>T c.(1759-1761)CGA>TGA p.R587* C6_uc003jml.1_Nonsense_Mutation_p.R587* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 587 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTGCATTCTCGGGTTCTCGAT 0.493 NA 5 105 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181071 140181071 + Missense_Mutation SNP G G C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr5:140181071G>C uc003lhf.2 + 1 289 c.289G>C c.(289-291)GGG>CGG p.G97R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 97 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACTGTGCGGGCGGAGCGC 0.557 NA 6 268 0 0 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056369 26056369 + Silent SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:26056369C>G uc003nfw.2 - 1 331 c.288G>C c.(286-288)ACG>ACC p.T96T NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 96 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CGGTGCCTTTCGTTTGCACCA 0.532 NA 6 178 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31604566 31604566 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:31604566G>A uc003nvb.3 + 28 6240 c.5991G>A c.(5989-5991)CCG>CCA p.P1997P BAT2_uc003nvc.3_Silent_p.P1997P NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1997 3-2.|3 X 50 AA type C repeats. cytoplasm|nucleus protein binding 0 GCTCCCTGCCGCCAGCACCAC 0.612 NA 8 282 0 0 0 0 GPR6 2830 broad.mit.edu 37 6 110300574 110300574 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:110300574G>A uc011eaw.1 + 2 439 c.259G>A c.(259-261)GCT>ACT p.A87T GPR6_uc011eav.1_Missense_Mutation_p.A102T|GPR6_uc003ptu.2_Missense_Mutation_p.A87T NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 87 Helical; Name=1; (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GACAGTGATCGCTGGAGAAAA 0.672 NA 7 157 0 0 0 0 LPA 4018 broad.mit.edu 37 6 160952810 160952810 + Missense_Mutation SNP C C A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:160952810C>A uc003qtl.2 - 40 6194 c.6074G>T c.(6073-6075)CGT>CTT p.R2025L NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4533 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTTGAAACACGAGCATAGAC 0.458 NA 6 82 4.1e-09 1.13e-08 1 0 SUN1 23353 broad.mit.edu 37 7 891656 891656 + Nonsense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:891656G>A uc011jvp.1 + 8 906 c.827G>A c.(826-828)TGG>TAG p.W276* GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Nonsense_Mutation_p.W193*|SUN1_uc011jvq.1_Nonsense_Mutation_p.W174*|SUN1_uc003sjg.2_Nonsense_Mutation_p.W181*|SUN1_uc011jvr.1_Nonsense_Mutation_p.W85*|SUN1_uc003sji.2_Nonsense_Mutation_p.W114*|SUN1_uc003sjk.2_5'Flank NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 303 Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TTGATTTCTTGGCTGAATGTG 0.433 NA 4 111 0 0 0 0 MAFK 7975 broad.mit.edu 37 7 1579888 1579888 + Silent SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:1579888C>T uc003skr.2 + 3 559 c.348C>T c.(346-348)ACC>ACT p.T116T MAFK_uc003sks.1_RNA NM_002360 NP_002351 O60675 MAFK_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 116 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) CGCTGCAGACCTTCGCGCGCA 0.682 NA 5 29 0 0 0 0 SGCE 8910 broad.mit.edu 37 7 94230126 94230126 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:94230126C>T uc003unl.2 - 7 980 c.869G>A c.(868-870)CGT>CAT p.R290H SGCE_uc003unk.2_Missense_Mutation_p.R122H|SGCE_uc003unm.2_Missense_Mutation_p.R290H|SGCE_uc003unn.2_Missense_Mutation_p.R290H|SGCE_uc011kic.1_Missense_Mutation_p.R249H|SGCE_uc011kid.1_Missense_Mutation_p.R326H NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 290 Cys-rich.|Extracellular (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCCCTCTCCACGAATCACTTC 0.378 NA 9 39 0 0 0 0 SDCBP 6386 broad.mit.edu 37 8 59492228 59492228 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr8:59492228G>A uc003xtn.2 + 7 775 c.625G>A c.(625-627)GTT>ATT p.V209I SDCBP_uc003xto.2_Missense_Mutation_p.V208I|SDCBP_uc003xtr.2_Missense_Mutation_p.V208I|SDCBP_uc003xtp.2_Missense_Mutation_p.V203I|SDCBP_uc003xtq.2_Missense_Mutation_p.V209I|SDCBP_uc003xts.2_Missense_Mutation_p.V215I|SDCBP_uc011led.1_Missense_Mutation_p.V150I NM_005625 NP_005616 O00560 SDCB1_HUMAN syntenin isoform 1 209 PDZ 2. actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding 0 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CACTGGACATGTTGGTTTTAT 0.338 NA 5 72 0 0 0 0 CA8 767 broad.mit.edu 37 8 61135309 61135309 + Missense_Mutation SNP G G A rs145210688 by1000genomes TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr8:61135309G>A uc003xtz.1 - 7 885 c.637C>T c.(637-639)CGG>TGG p.R213W CA8_uc003xua.1_Missense_Mutation_p.R213W NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 213 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CAGTAATCCCGCAGCAGAGGG 0.438 NA 15 77 0 0 0 0 KIAA1539 80256 broad.mit.edu 37 9 35107547 35107547 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr9:35107547C>T uc003zwl.2 - 3 1050 c.725G>A c.(724-726)CGA>CAA p.R242Q KIAA1539_uc003zwm.2_Missense_Mutation_p.R242Q|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.R242Q|KIAA1539_uc003zwp.1_Missense_Mutation_p.R242Q|KIAA1539_uc010mkk.1_RNA NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 242 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGCAGCCTTCGCTTGGTGGG 0.697 NA 5 139 0 0 0 0 AWAT1 158833 broad.mit.edu 37 X 69455618 69455618 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:69455618G>A uc004dxy.2 + 2 170 c.129G>A c.(127-129)CCG>CCA p.P43P NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 43 Helical; (Potential). lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity ovary(3) 3 CCTTGTGGCCGCTACCAGTGC 0.488 NA 6 243 0 0 0 0 F9 2158 broad.mit.edu 37 X 138643694 138643694 + Missense_Mutation SNP A A T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:138643694A>T uc004fas.1 + 8 879 c.850A>T c.(850-852)ATT>TTT p.I284F F9_uc004fat.1_Missense_Mutation_p.I246F NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 284 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAACATAATATTGAGGAGAC 0.333 NA 13 90 0 0 0 0 HAUS7 55559 broad.mit.edu 37 X 152730472 152730472 + Missense_Mutation SNP C C A rs141087618 TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:152730472C>A uc004fho.1 - 3 854 c.296G>T c.(295-297)GGG>GTG p.G99V HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.G99V|HAUS7_uc004fhp.1_Intron|HAUS7_uc011myq.1_RNA NM_017518 NP_059988 Q99871 HAUS7_HUMAN HAUS augmin-like complex subunit 7 99 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding 0 TGTTGGGACCCCTTTCAGTGA 0.577 NA 17 359 1.56e-12 4.4e-12 1 0 CHAT 1103 broad.mit.edu 37 10 50872950 50872952 + In_Frame_Del DEL CTT CTT - TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr10:50872950_50872952delCTT uc001jhz.2 + 15 2258_2260 c.2105_2107delCTT c.(2104-2109)ACTTCT>ACT p.S705del CHAT_uc001jhv.1_In_Frame_Del_p.S587del|CHAT_uc001jhx.1_In_Frame_Del_p.S587del|CHAT_uc001jhy.1_In_Frame_Del_p.S587del|CHAT_uc001jia.2_In_Frame_Del_p.S587del|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 705 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGCAAAGAGACTTCTTCTAGCAA 0.502 NA 8 306 --- --- --- --- NA NA NA NA