#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	rs146179360	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:22154901G>A	ENST00000374695.3	-	89	12335	c.12256C>T	c.(12256-12258)Cgg>Tgg	p.R4086W	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4086	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597													G|||	5	0.000998403	0.0	0.0014	5008	,	,		17954	0.0		0.003	False		,,,				2504	0.001					uc001bfj.2																			0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(12256-12258)CGG>TGG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	81.0	85.0		12256	4.4	1.0	1	dbSNP_134	85	10,8590	7.7+/-29.5	0,10,4290	yes	missense	HSPG2	NM_005529.5	101	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	probably-damaging	4086/4392	22154901	11,12995	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22154901G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12256C>T	1.37:g.22154901G>A	ENSP00000363827:p.Arg4086Trp					HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	p.R4086W	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	89	12296	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4086			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12256C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206242	0.58343	2.27E-4	0.001163	ENSG00000142798	ENST00000374695	T	0.75589	-0.95	4.41	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	0.000000	0.34362	N	0.004028	T	0.82245	0.4995	M	0.62723	1.935	0.34361	D	0.690986	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	D	0.87240	0.2266	10	0.72032	D	0.01	.	10.2948	0.43618	0.0:0.0:0.6897:0.3103	.	2026;4086	Q59EG0;P98160	.;PGBM_HUMAN	W	4086	ENSP00000363827:R4086W	ENSP00000363827:R4086W	R	-	1	2	HSPG2	22027488	1.000000	0.71417	0.993000	0.49108	0.771000	0.43674	2.717000	0.47227	2.162000	0.67917	0.462000	0.41574	CGG		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
GRHL3	57822	broad.mit.edu	37	1	24661135	24661135	+	Splice_Site	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:24661135G>T	ENST00000350501.5	+	3	332	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_Intron|GRHL3_ENST00000236255.4_Splice_Site_p.G74C|GRHL3_ENST00000361548.4_Splice_Site_p.G69C|GRHL3_ENST00000356046.2_Splice_Site_p.G23C	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	69	Transcription activation.				central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTCTTCTCAGGGTCCCAAGGA	0.552																																						uc001biy.2																			0				ovary(1)	1						c.(220-222)GGT>TGT		sister-of-mammalian grainyhead protein isoform							188.0	182.0	184.0					1																	24661135		2203	4300	6503	SO:0001630	splice_region_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24661135G>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.205-1G>T	1.37:g.24661135G>T						GRHL3_uc001bix.2_Missense_Mutation_p.G69C|GRHL3_uc001biz.2_5'UTR	p.G74C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	266	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	69			Transcription activation.		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.220G>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945561	0.73672	.	.	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000356046;ENST00000524724;ENST00000236255	T;T;T;T;T	0.47869	1.25;1.25;0.83;0.83;1.25	5.1	5.1	0.69264	.	0.185702	0.36374	N	0.002623	T	0.56731	0.2005	L	0.54323	1.7	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.53146	0.719;0.719	T	0.53287	-0.8460	9	.	.	.	-32.2037	18.0304	0.89282	0.0:0.0:1.0:0.0	.	74;69	Q8TE85-2;G3XAF0	.;.	C	69;69;23;23;74	ENSP00000354943:G69C;ENSP00000288955:G69C;ENSP00000348333:G23C;ENSP00000431290:G23C;ENSP00000236255:G74C	.	G	+	1	0	GRHL3	24533722	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.319000	0.59197	2.813000	0.96785	0.561000	0.74099	GGT		0.552	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	Missense_Mutation
FAM73A	374986	broad.mit.edu	37	1	78338781	78338781	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:78338781G>C	ENST00000370791.3	+	15	1688	c.1656G>C	c.(1654-1656)ctG>ctC	p.L552L	FAM73A_ENST00000443751.2_Silent_p.L515L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	552						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAATTCTCTGTATGATTTAT	0.358																																						uc001dhx.2																			0				ovary(1)	1						c.(1654-1656)CTG>CTC		hypothetical protein LOC374986							171.0	166.0	168.0					1																	78338781		2203	4300	6503	SO:0001819	synonymous_variant	374986					integral to membrane		g.chr1:78338781G>C		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1656G>C	1.37:g.78338781G>C						FAM73A_uc010ork.1_Silent_p.L553L|FAM73A_uc010orl.1_Silent_p.L515L	p.L552L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	15	1688	+			552					Q6MZG0	Silent	SNP	ENST00000370791.3	37	c.1656G>C	CCDS681.1																																																																																				0.358	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549	
TTLL7	79739	broad.mit.edu	37	1	84408356	84408356	+	Silent	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:84408356A>T	ENST00000260505.8	-	7	890	c.513T>A	c.(511-513)tcT>tcA	p.S171S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	171	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTATCAAAGAAATCCTAT	0.294																																						uc001djc.2																			0				ovary(1)	1						c.(511-513)TCT>TCA		tubulin tyrosine ligase-like family, member 7							25.0	26.0	25.0					1																	84408356		2201	4297	6498	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84408356A>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.513T>A	1.37:g.84408356A>T						TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.S171S	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	7	909	-			171			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.513T>A	CCDS690.2																																																																																				0.294	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
KCNA10	3744	broad.mit.edu	37	1	111060530	111060530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:111060530G>A	ENST00000369771.2	-	1	1267	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	294					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTCTTGCTGGGGCAGACCACG	0.512																																						uc001dzt.1																			0				ovary(3)|large_intestine(1)	4						c.(880-882)CCC>TCC		potassium voltage-gated channel, shaker-related							135.0	118.0	124.0					1																	111060530		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060530G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.880C>T	1.37:g.111060530G>A	ENSP00000358786:p.Pro294Ser						p.P294S	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1268	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	294						Missense_Mutation	SNP	ENST00000369771.2	37	c.880C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148874	0.78001	.	.	ENSG00000143105	ENST00000369771	D	0.97480	-4.4	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99605	1.0979	10	0.87932	D	0	.	18.6105	0.91283	0.0:0.0:1.0:0.0	.	294	Q16322	KCA10_HUMAN	S	294	ENSP00000358786:P294S	ENSP00000358786:P294S	P	-	1	0	KCNA10	110862053	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	CCC		0.512	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A	rs189250898		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:145360624G>A	ENST00000342960.5	+	74	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	641						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S3083S(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478																																						uc001end.3																			2	Substitution - coding silent(2)		endometrium(1)|central_nervous_system(1)		0						c.(9472-9474)TCG>TCA		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145360624G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9249G>A	1.37:g.145360624G>A						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S	p.S3158S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	76	9509	+	all_hematologic(923;0.032)		3083					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.9474G>A	CCDS53355.1																																																																																				0.478	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
FLG2	388698	broad.mit.edu	37	1	152326101	152326101	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:152326101T>C	ENST00000388718.5	-	3	4233	c.4161A>G	c.(4159-4161)agA>agG	p.R1387R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1387					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGTTTCATGTCTCTCATGAA	0.507																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4159-4161)AGA>AGG		filaggrin family member 2							238.0	215.0	223.0					1																	152326101		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152326101T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4161A>G	1.37:g.152326101T>C						uc001ezv.2_Intron	p.R1387R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1387					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4161A>G	CCDS30861.1																																																																																				0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
RNPEP	6051	broad.mit.edu	37	1	201966632	201966632	+	Missense_Mutation	SNP	A	A	T	rs114130028		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:201966632A>T	ENST00000295640.4	+	5	1083	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	RNPEP_ENST00000367286.3_Missense_Mutation_p.N308I|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA|RP11-465N4.4_ENST00000415582.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	347					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTCTGGCTCAATGAAGGTTTC	0.542																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.2																			0				upper_aerodigestive_tract(1)	1						c.(1039-1041)AAT>ATT		arginyl aminopeptidase							104.0	90.0	95.0					1																	201966632		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201966632A>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1040A>T	1.37:g.201966632A>T	ENSP00000295640:p.Asn347Ile					RNPEP_uc001gxe.2_Missense_Mutation_p.N48I|RNPEP_uc001gxf.2_Missense_Mutation_p.N216I	p.N347I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	5	1069	+			347					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1040A>T	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912863	0.72983	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	H	0.94925	3.6	0.54753	D	0.999982	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.50303	-0.8844	10	0.87932	D	0	-28.5664	13.8782	0.63667	1.0:0.0:0.0:0.0	.	355;347	Q7RU04;Q9H4A4	.;AMPB_HUMAN	I	347;308;216;93	ENSP00000295640:N347I;ENSP00000356255:N308I;ENSP00000389602:N216I;ENSP00000407614:N93I	ENSP00000295640:N347I	N	+	2	0	RNPEP	200233255	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.699000	0.68310	1.914000	0.55421	0.523000	0.50628	AAT		0.542	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
RPS6KC1	26750	broad.mit.edu	37	1	213414537	213414537	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:213414537T>C	ENST00000366960.3	+	11	1868	c.1718T>C	c.(1717-1719)tTc>tCc	p.F573S	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.F561S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.F276S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.F361S|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	573					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAAGTTCTTCCCCAACGAT	0.458																																						uc010ptr.1																			0				lung(4)|ovary(3)|breast(1)	8						c.(1717-1719)TTC>TCC		ribosomal protein S6 kinase, 52kDa, polypeptide							53.0	52.0	52.0					1																	213414537		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414537T>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1718T>C	1.37:g.213414537T>C	ENSP00000355927:p.Phe573Ser					RPS6KC1_uc001hkd.2_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.1_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.1_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.1_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.2_Missense_Mutation_p.F392S	p.F573S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1877	+			573					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1718T>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197260	0.38806	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.54675	0.97;1.07;1.09;0.56	5.03	3.87	0.44632	.	0.179480	0.49305	D	0.000143	T	0.65365	0.2684	M	0.66939	2.045	0.36266	D	0.854857	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.64042	0.886;0.921;0.921	T	0.70389	-0.4885	10	0.40728	T	0.16	-27.833	11.0345	0.47793	0.1393:0.0:0.0:0.8607	.	361;573;561	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	361;573;561;276	ENSP00000442306:F361S;ENSP00000355927:F573S;ENSP00000355926:F561S;ENSP00000439282:F276S	ENSP00000355926:F561S	F	+	2	0	RPS6KC1	211481160	0.999000	0.42202	0.017000	0.16124	0.682000	0.39822	2.409000	0.44583	0.729000	0.32403	0.377000	0.23210	TTC		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
OR4S1	256148	broad.mit.edu	37	11	48328474	48328474	+	Missense_Mutation	SNP	G	G	T	rs377193891		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:48328474G>T	ENST00000319988.1	+	1	700	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCGGCGTAAGGCTGTCTCCAC	0.468																																						uc010rhu.1																			0				ovary(1)	1						c.(700-702)GCT>TCT		olfactory receptor, family 4, subfamily S,		G	SER/ALA	0,4402		0,0,2201	229.0	207.0	215.0		700	4.1	0.7	11		215	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR4S1	NM_001004725.1	99	0,1,6498	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	234/310	48328474	1,12997	2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328474G>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.700G>T	11.37:g.48328474G>T	ENSP00000321447:p.Ala234Ser						p.A234S	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	700	+			234			Helical; Name=6; (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.700G>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830759	0.50845	0.0	1.16E-4	ENSG00000176555	ENST00000319988	T	0.00359	7.87	5.02	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01222	0.0040	H	0.94462	3.54	0.41059	D	0.985366	D	0.89917	1.0	D	0.85130	0.997	T	0.49143	-0.8970	9	0.87932	D	0	.	13.0462	0.58928	0.0:0.0:0.8375:0.1625	.	234	Q8NGB4	OR4S1_HUMAN	S	234	ENSP00000321447:A234S	ENSP00000321447:A234S	A	+	1	0	OR4S1	48285050	1.000000	0.71417	0.698000	0.30274	0.016000	0.09150	6.385000	0.73182	1.260000	0.44134	-0.127000	0.14921	GCT		0.468	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
CD5	921	broad.mit.edu	37	11	60890382	60890382	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:60890382A>G	ENST00000347785.3	+	7	1269	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	368	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCCCAGGCCAGGATCCAAAC	0.657																																						uc009ynk.2																			0				ovary(1)	1						c.(1102-1104)CAG>CGG		CD5 molecule precursor							58.0	62.0	61.0					11																	60890382		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60890382A>G	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1103A>G	11.37:g.60890382A>G	ENSP00000342681:p.Gln368Arg						p.Q368R	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	7	1206	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	368			Extracellular (Potential).|SRCR 3.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1103A>G	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	A	9.947	1.219039	0.22373	.	.	ENSG00000110448	ENST00000347785	T	0.28255	1.62	4.8	3.67	0.42095	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.257566	0.27306	N	0.019980	T	0.33469	0.0864	M	0.76574	2.34	0.80722	D	1	B	0.19935	0.04	B	0.26416	0.069	T	0.09314	-1.0680	10	0.39692	T	0.17	-5.6331	8.6629	0.34103	0.9106:0.0:0.0894:0.0	.	368	P06127	CD5_HUMAN	R	368	ENSP00000342681:Q368R	ENSP00000342681:Q368R	Q	+	2	0	CD5	60646958	1.000000	0.71417	0.832000	0.32986	0.211000	0.24417	3.507000	0.53371	0.701000	0.31803	0.247000	0.18012	CAG		0.657	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
TUT1	64852	broad.mit.edu	37	11	62343579	62343579	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:62343579G>A	ENST00000476907.1	-	9	2303	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.P576S|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000532986.1_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	538	PAP-associated.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTCAGGGGGCCAAGGCGC	0.637																																						uc001nto.2																			0				central_nervous_system(1)|skin(1)	2						c.(1726-1728)CCC>TCC		terminal uridylyl transferase 1, U6							23.0	26.0	25.0					11																	62343579		2198	4291	6489	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343579G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1612C>T	11.37:g.62343579G>A	ENSP00000419607:p.Pro538Ser					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.P72S	p.P576S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			9	1764	-			538			PAP-associated.		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1726C>T		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654502	0.67472	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.55413	0.52;0.52	5.39	4.48	0.54585	PAP/25A-associated (1);	0.115106	0.64402	N	0.000012	T	0.59252	0.2180	L	0.34521	1.04	0.44366	D	0.997264	D;D	0.55172	0.97;0.963	D;P	0.65684	0.937;0.852	T	0.61182	-0.7114	10	0.59425	D	0.04	-18.5405	11.8888	0.52618	0.0849:0.0:0.9151:0.0	.	538;576	Q9H6E5;F5H0R1	STPAP_HUMAN;.	S	576;538	ENSP00000308000:P576S;ENSP00000419607:P538S	ENSP00000308000:P576S	P	-	1	0	TUT1	62100155	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.269000	0.65542	1.282000	0.44496	-0.253000	0.11424	CCC		0.637	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830	
COLCA1	399948	broad.mit.edu	37	11	111166838	111166838	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:111166838A>G	ENST00000532918.1	-	2	2771	c.366T>C	c.(364-366)gcT>gcC	p.A122A	COLCA1_ENST00000526150.1_5'Flank|COLCA1_ENST00000540738.1_Silent_p.A122A|COLCA1_ENST00000355430.4_Silent_p.A122A			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	122						integral component of membrane (GO:0016021)|membrane (GO:0016020)											ATTAATGTTGAGCTACAAACC	0.433																																						uc001pld.2																			0				lung(1)	1						c.(364-366)GCT>GCC		hypothetical protein LOC399948							54.0	60.0	58.0					11																	111166838		2201	4297	6498	SO:0001819	synonymous_variant	399948							g.chr11:111166838A>G	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.366T>C	11.37:g.111166838A>G						C11orf92_uc001ple.2_RNA	p.A122A	NM_207429	NP_997312					2	2775	-									Silent	SNP	ENST00000532918.1	37	c.366T>C																																																																																					0.433	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1		
BUD13	84811	broad.mit.edu	37	11	116627935	116627935	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:116627935G>A	ENST00000260210.4	-	9	1716	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BUD13_ENST00000375445.3_Missense_Mutation_p.R431C	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	565					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCACTGTAGCGAGGTCTCACT	0.413																																						uc001ppn.2																			0				large_intestine(1)|pancreas(1)	2						c.(1693-1695)CGC>TGC		BUD13 homolog isoform 1							72.0	70.0	71.0					11																	116627935		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116627935G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1693C>T	11.37:g.116627935G>A	ENSP00000260210:p.Arg565Cys					BUD13_uc001ppo.2_Missense_Mutation_p.R431C	p.R565C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	9	1727	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	565					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1693C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487326	0.44249	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.20332	2.13;2.08	6.04	6.04	0.98038	.	0.048954	0.85682	D	0.000000	T	0.23410	0.0566	L	0.51914	1.62	0.80722	D	1	B;B	0.22851	0.03;0.076	B;B	0.25506	0.018;0.061	T	0.01753	-1.1281	10	0.87932	D	0	-9.1507	13.4467	0.61144	0.0:0.0:0.7438:0.2562	.	431;565	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	C	431;565	ENSP00000364594:R431C;ENSP00000260210:R565C	ENSP00000260210:R565C	R	-	1	0	BUD13	116133145	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.875000	0.39578	2.873000	0.98535	0.643000	0.83706	CGC		0.413	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725	
PLEKHG6	55200	broad.mit.edu	37	12	6424277	6424277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:6424277G>A	ENST00000396988.3	+	4	631	c.401G>A	c.(400-402)gGt>gAt	p.G134D	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.G102D|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.G134D|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G134D	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	134						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATAGGAGAGGGTGGCGACAGT	0.632																																						uc001qnr.2																			0				large_intestine(1)|skin(1)	2						c.(400-402)GGT>GAT		pleckstrin homology domain-containing family G							67.0	62.0	64.0					12																	6424277		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424277G>A	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.401G>A	12.37:g.6424277G>A	ENSP00000380185:p.Gly134Asp					PLEKHG6_uc001qns.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.1_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.1_Missense_Mutation_p.G102D	p.G134D	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			4	549	+			134					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.401G>A	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939672	0.18281	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.62232	0.15;0.19;0.15;0.04	5.0	3.11	0.35812	.	0.248463	0.28766	N	0.014214	T	0.39627	0.1085	L	0.27053	0.805	0.52501	D	0.999959	B;B;B	0.16166	0.004;0.004;0.016	B;B;B	0.17722	0.008;0.008;0.019	T	0.21724	-1.0237	10	0.02654	T	1	-20.2037	6.8894	0.24220	0.0945:0.175:0.7305:0.0	.	102;134;134	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	D	134;134;134;102	ENSP00000011684:G134D;ENSP00000442836:G134D;ENSP00000380185:G134D;ENSP00000393194:G102D	ENSP00000011684:G134D	G	+	2	0	PLEKHG6	6294538	0.945000	0.32115	0.342000	0.25602	0.972000	0.66771	1.590000	0.36654	0.663000	0.31027	0.591000	0.81541	GGT		0.632	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
LRP1	4035	broad.mit.edu	37	12	57563089	57563089	+	Splice_Site	DEL	G	G	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:57563089delG	ENST00000243077.3	+	20	3628	c.3162delG	c.(3160-3162)cag>ca	p.Q1054fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1054					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCAACCAGGGTGGGCACC	0.622																																						uc001snd.2																			0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3160-3162)CAGfs		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						38.0	34.0	35.0					12																	57563089		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57563089delG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3163+1G>-	12.37:g.57563089delG						LRP1_uc009zpi.1_RNA	p.Q1054fs	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3628	+			1054			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.3162delG	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Frame_Shift_Del
LRRIQ1	84125	broad.mit.edu	37	12	85450521	85450521	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:85450521T>C	ENST00000393217.2	+	8	2011	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAATGCTTGGAATAGTG	0.313																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1948-1950)GCT>GCC		leucine-rich repeats and IQ motif containing 1							70.0	71.0	70.0					12																	85450521		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85450521T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1950T>C	12.37:g.85450521T>C						LRRIQ1_uc001tab.1_Silent_p.A650A|LRRIQ1_uc001taa.1_Silent_p.A625A	p.A650A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2061	+			650					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1950T>C	CCDS41816.1																																																																																				0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
NR2C1	7181	broad.mit.edu	37	12	95442924	95442924	+	Missense_Mutation	SNP	G	G	T	rs149986233		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:95442924G>T	ENST00000333003.5	-	9	1381	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NR2C1_ENST00000330677.7_Missense_Mutation_p.H351N|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.H351N	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	351					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTGATTAGGTGTACACTTCCT	0.443																																						uc001tdm.3																			0				ovary(1)	1						c.(1051-1053)CAC>AAC		nuclear receptor subfamily 2, group C, member 1							151.0	129.0	137.0					12																	95442924		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95442924G>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1051C>A	12.37:g.95442924G>T	ENSP00000333275:p.His351Asn					NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdo.3_Missense_Mutation_p.H351N|NR2C1_uc001tdn.3_Missense_Mutation_p.H351N	p.H351N	NM_003297	NP_003288	P13056	NR2C1_HUMAN			9	1307	-			351					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1051C>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584207	0.13749	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91124	-2.79;-2.5;-2.51	6.05	4.18	0.49190	Nuclear hormone receptor, ligand-binding (1);	0.371713	0.34200	N	0.004167	D	0.84005	0.5377	L	0.35854	1.095	0.24634	N	0.993602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.001;0.004;0.001	T	0.66372	-0.5940	10	0.15066	T	0.55	.	11.6768	0.51434	0.0:0.2528:0.6159:0.1313	.	351;351;351;351	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	N	351	ENSP00000333275:H351N;ENSP00000376813:H351N;ENSP00000328843:H351N	ENSP00000328843:H351N	H	-	1	0	NR2C1	93967055	1.000000	0.71417	0.055000	0.19348	0.163000	0.22366	4.566000	0.60843	0.846000	0.35142	0.650000	0.86243	CAC		0.443	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
ELK3	2004	broad.mit.edu	37	12	96640864	96640864	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:96640864C>T	ENST00000228741.3	+	3	680	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	118					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCCGGAGGGCCGCGAGGCCC	0.612																																						uc001teo.1																			0				ovary(1)	1						c.(352-354)GGC>GGT		ELK3 protein							58.0	59.0	58.0					12																	96640864		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96640864C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.354C>T	12.37:g.96640864C>T							p.G118G	NM_005230	NP_005221	P41970	ELK3_HUMAN			3	633	+	all_cancers(2;0.00173)		118					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.354C>T	CCDS9060.1																																																																																				0.612	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230	
TPTE2	93492	broad.mit.edu	37	13	20039439	20039439	+	Missense_Mutation	SNP	C	C	T	rs146223410	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr13:20039439C>T	ENST00000400230.2	-	9	676	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	TPTE2_ENST00000382977.4_Missense_Mutation_p.R211Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R100Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R171Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R134Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R100Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R134Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R171Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	211	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R134Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTGTGTATCGCCTTTTGTT	0.308													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18849	0.0		0.0	False		,,,				2504	0.0					uc001umd.2																			1	Substitution - Missense(1)		NS(1)		0						c.(631-633)CGA>CAA		TPTE and PTEN homologous inositol lipid		C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	189.0	173.0	179.0		299,401,632	2.5	0.0	13	dbSNP_134	179	0,8600		0,0,4300	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	43,43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	100/412,134/446,211/523	20039439	5,13001	2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039439C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.632G>A	13.37:g.20039439C>T	ENSP00000383089:p.Arg211Gln					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R100Q|TPTE2_uc001ume.2_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R211Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	10	843	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	211			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.632G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	12.38	1.920167	0.33908	0.001135	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	2.55	2.55	0.30701	Phosphatase tensin type (1);	0.060868	0.64402	N	0.000002	T	0.50922	0.1644	M	0.77820	2.39	0.41615	D	0.988934	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.982;0.989;0.997	T	0.53092	-0.8487	9	.	.	.	-11.0328	8.72	0.34434	0.0:1.0:0.0:0.0	.	100;134;211	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	171;100;211;134;134;211;171;100;211;80	ENSP00000372438:R171Q;ENSP00000382974:R100Q;ENSP00000383089:R211Q;ENSP00000255310:R134Q;ENSP00000375098:R134Q;ENSP00000372437:R211Q;ENSP00000372435:R171Q;ENSP00000442218:R100Q	.	R	-	2	0	TPTE2	18937439	1.000000	0.71417	0.030000	0.17652	0.029000	0.11900	5.417000	0.66423	1.724000	0.51502	0.467000	0.42956	CGA		0.308	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
GZMB	3002	broad.mit.edu	37	14	25102156	25102156	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr14:25102156G>A	ENST00000216341.4	-	2	274	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GZMB_ENST00000526004.1_Silent_p.D56D|GZMB_ENST00000415355.3_Silent_p.D44D|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.D90D|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Silent_p.D56D			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	56	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCACGAAGTCGTCTCGTATCA	0.572																																						uc001wps.2																			0					0						c.(166-168)GAC>GAT		granzyme B precursor							92.0	84.0	87.0					14																	25102156		2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102156G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.168C>T	14.37:g.25102156G>A						GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_RNA	p.D56D	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	234	-			56			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.168C>T	CCDS9633.1																																																																																				0.572	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	
RYR3	6263	broad.mit.edu	37	15	34137199	34137199	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:34137199G>T	ENST00000389232.4	+	93	13503	c.13433G>T	c.(13432-13434)cGt>cTt	p.R4478L	RYR3_ENST00000415757.3_Missense_Mutation_p.R4473L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4478					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAACCCTGCGTGCCCTGGCC	0.502																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13432-13434)CGT>CTT		ryanodine receptor 3							141.0	140.0	140.0					15																	34137199		2040	4201	6241	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137199G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13433G>T	15.37:g.34137199G>T	ENSP00000373884:p.Arg4478Leu					RYR3_uc010bar.2_Missense_Mutation_p.R4473L	p.R4478L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13503	+		all_lung(180;7.18e-09)	4478					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13433G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130298	0.56721	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94232	-3.38	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.103858	0.48767	D	0.000168	D	0.95456	0.8524	M	0.72479	2.2	0.42367	D	0.992436	D;D	0.69078	0.997;0.99	D;D	0.69142	0.919;0.962	D	0.93692	0.7008	10	0.31617	T	0.26	.	12.6764	0.56897	0.0752:0.0:0.9248:0.0	.	4473;4478	Q15413-2;Q15413	.;RYR3_HUMAN	L	4478;4474	ENSP00000373884:R4478L	ENSP00000354735:R4474L	R	+	2	0	RYR3	31924491	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	5.244000	0.65400	2.884000	0.98904	0.655000	0.94253	CGT		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
LACTB	114294	broad.mit.edu	37	15	63433763	63433763	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:63433763A>G	ENST00000261893.4	+	6	1475	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	468						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGTGTTGTGGAAAGGAAACAA	0.483																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.2																			0					0						c.(1402-1404)GAA>GGA		lactamase, beta isoform a							78.0	68.0	71.0					15																	63433763		2203	4300	6503	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63433763A>G	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1403A>G	15.37:g.63433763A>G	ENSP00000261893:p.Glu468Gly						p.E468G	NM_032857	NP_116246	P83111	LACTB_HUMAN			6	1442	+			468					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.1403A>G	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280394	0.59758	.	.	ENSG00000103642	ENST00000261893	T	0.41065	1.01	5.64	5.64	0.86602	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.54323	1.7	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	T	0.54616	-0.8267	10	0.48119	T	0.1	-25.3143	15.3269	0.74172	1.0:0.0:0.0:0.0	.	468	P83111	LACTB_HUMAN	G	468	ENSP00000261893:E468G	ENSP00000261893:E468G	E	+	2	0	LACTB	61220816	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	8.990000	0.93510	2.273000	0.75805	0.460000	0.39030	GAA		0.483	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
BAIAP3	8938	broad.mit.edu	37	16	1392020	1392020	+	Silent	SNP	G	G	A	rs373003886		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:1392020G>A	ENST00000324385.5	+	10	1073	c.915G>A	c.(913-915)gcG>gcA	p.A305A	BAIAP3_ENST00000397488.2_Silent_p.A287A|BAIAP3_ENST00000397489.1_Silent_p.A287A|BAIAP3_ENST00000568887.1_Silent_p.A242A|BAIAP3_ENST00000426824.3_Silent_p.A270A|BAIAP3_ENST00000421665.2_Silent_p.A270A|BAIAP3_ENST00000562208.1_Silent_p.A247A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	305	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGTAGAAGCGTGCAGGAAGC	0.617																																						uc002clk.1																			0				pancreas(1)	1						c.(913-915)GCG>GCA		BAI1-associated protein 3		G	,,,,	0,4398		0,0,2199	87.0	68.0	74.0		810,810,741,726,915	-10.5	0.1	16		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,,,	270/1117,270/1153,247/1130,242/1125,305/1188	1392020	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1392020G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.915G>A	16.37:g.1392020G>A						BAIAP3_uc002clj.2_Silent_p.A287A|BAIAP3_uc010uuz.1_Silent_p.A270A|BAIAP3_uc010uva.1_Silent_p.A242A|BAIAP3_uc010uvb.1_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	p.A305A	NM_003933	NP_003924	O94812	BAIP3_HUMAN			10	915	+		Hepatocellular(780;0.0893)	305			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.915G>A	CCDS10434.1																																																																																				0.617	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		
PPL	5493	broad.mit.edu	37	16	4952435	4952435	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:4952435T>C	ENST00000345988.2	-	4	499	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PPL_ENST00000590782.2_Missense_Mutation_p.N137S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	137					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCCCAGTTGACCTGTGG	0.637																																						uc002cyd.1																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(409-411)AAC>AGC		periplakin							154.0	120.0	131.0					16																	4952435		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4952435T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.410A>G	16.37:g.4952435T>C	ENSP00000340510:p.Asn137Ser						p.N137S	NM_002705	NP_002696	O60437	PEPL_HUMAN			4	500	-			137					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.410A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487643	0.84854	.	.	ENSG00000118898	ENST00000345988	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.64997	1.995	0.48341	D	0.999631	P	0.52463	0.953	B	0.41946	0.371	T	0.70630	-0.4819	10	0.66056	D	0.02	.	13.2333	0.59955	0.0:0.0:0.0:1.0	.	137	O60437	PEPL_HUMAN	S	137	ENSP00000340510:N137S	ENSP00000340510:N137S	N	-	2	0	PPL	4892436	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.303000	0.78871	1.873000	0.54277	0.528000	0.53228	AAC		0.637	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7577517A>C	ENST00000269305.4	-	7	953	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_ENST00000413465.2_Missense_Mutation_p.I255S|TP53_ENST00000455263.2_Missense_Mutation_p.I255S|TP53_ENST00000359597.4_Missense_Mutation_p.I255S|TP53_ENST00000420246.2_Missense_Mutation_p.I255S|TP53_ENST00000445888.2_Missense_Mutation_p.I255S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCAGTGTGATGATGGTGAG	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	p.I255F(16)|p.0?(7)|p.I255T(7)|p.I255del(7)|p.I255S(7)|p.I255N(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(763-765)ATC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							145.0	104.0	118.0					17																	7577517		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577517A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764T>G	17.37:g.7577517A>C	ENSP00000269305:p.Ile255Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.2_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S	p.I255S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	958	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.764T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251627	0.59212	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99654	0.9872	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.994;0.999;1.0;1.0	D;P;D;D;D	0.87578	0.996;0.901;0.996;0.998;0.998	D	0.97461	1.0034	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	255;255;255;255;255;255;244;123	ENSP00000410739:I255S;ENSP00000352610:I255S;ENSP00000269305:I255S;ENSP00000398846:I255S;ENSP00000391127:I255S;ENSP00000391478:I255S;ENSP00000425104:I123S	ENSP00000269305:I255S	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TNFAIP1	7126	broad.mit.edu	37	17	26675209	26675209	+	IGR	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:26675209C>A	ENST00000226225.2	+	0	3627				POLDIP2_ENST00000540200.1_Silent_p.R346R|POLDIP2_ENST00000003607.4_5'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)						apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGGAGGAATCCGAACATCAA	0.547																																						uc002haz.2																			0					0						c.(1039-1041)CGG>CGT		DNA polymerase delta interacting protein 2							103.0	104.0	104.0					17																	26675209		1899	4124	6023	SO:0001628	intergenic_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26675209C>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501		17.37:g.26675209C>A						POLDIP2_uc010wag.1_RNA	p.R347R	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	14	1173	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		347			ApaG.		B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	c.1041G>T	CCDS11227.1																																																																																				0.547	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137	
CDK12	51755	broad.mit.edu	37	17	37618715	37618716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:37618715_37618716insA	ENST00000447079.4	+	1	424_425	c.391_392insA	c.(391-393)gaafs	p.E131fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E131fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	131					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGAAAAAGAAAAAAGCCAA	0.52			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(391-393)GAAfs		Cdc2-related kinase, arginine/serine-rich																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618715_37618716insA	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.397dupA	17.37:g.37618721_37618721dupA	ENSP00000398880:p.Glu131fs	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.3_Frame_Shift_Ins_p.E131fs	p.E131fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	977_978	+			131					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.391_392insA	CCDS11337.1																																																																																				0.520	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
ZNF544	27300	broad.mit.edu	37	19	58772645	58772645	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr19:58772645A>C	ENST00000596652.1	+	6	907	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	ZNF544_ENST00000269829.4_Missense_Mutation_p.S225R|ZNF544_ENST00000600044.1_Missense_Mutation_p.S197R|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S197R|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.S197R|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S83R|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTTCTGTCAGAGTATTTACTT	0.378																																						uc010euo.2																			0				pancreas(1)	1						c.(673-675)AGT>CGT		zinc finger protein 544							65.0	66.0	66.0					19																	58772645		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772645A>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.673A>C	19.37:g.58772645A>C	ENSP00000469635:p.Ser225Arg					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.S197R|ZNF544_uc010yhy.1_Missense_Mutation_p.S197R|ZNF544_uc002qrt.3_Missense_Mutation_p.S83R|ZNF544_uc002qru.3_Missense_Mutation_p.S83R|uc002qrx.1_Intron	p.S225R	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1147	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	225					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.673A>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	5.329	0.246026	0.10077	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.10960	2.88;2.82	3.14	0.834	0.18880	.	.	.	.	.	T	0.08268	0.0206	N	0.21194	0.64	0.09310	N	0.999996	D;B;B	0.54964	0.969;0.041;0.105	P;B;B	0.47603	0.551;0.05;0.095	T	0.29181	-1.0020	9	0.32370	T	0.25	.	4.6876	0.12765	0.6163:0.1951:0.0:0.1886	.	197;197;225	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	225;197	ENSP00000269829:S225R;ENSP00000394341:S197R	ENSP00000269829:S225R	S	+	1	0	ZNF544	63464457	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.230000	0.09083	0.096000	0.17463	0.533000	0.62120	AGT		0.378	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
EPAS1	2034	broad.mit.edu	37	2	46603736	46603736	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:46603736delC	ENST00000263734.3	+	9	1603	c.1093delC	c.(1093-1095)cccfs	p.P365fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	365					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTTCAAGCCCCACCTGAT	0.493																																						uc002ruv.2																			0				ovary(1)|skin(1)	2						c.(1093-1095)CCCfs		endothelial PAS domain protein 1							156.0	151.0	153.0					2																	46603736		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603736delC	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1093delC	2.37:g.46603736delC	ENSP00000263734:p.Pro365fs						p.P365fs	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1581	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	365					Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.1093delC	CCDS1825.1																																																																																				0.493	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
SPTBN1	6711	broad.mit.edu	37	2	54856159	54856159	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:54856159C>T	ENST00000356805.4	+	14	2169	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R617C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	630					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCGGCTGAGCGCAGGGCCCG	0.582																																						uc002rxu.2																			0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1888-1890)CGC>TGC		spectrin, beta, non-erythrocytic 1 isoform 1							61.0	71.0	67.0					2																	54856159		2202	4300	6502	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856159C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1888C>T	2.37:g.54856159C>T	ENSP00000349259:p.Arg630Cys					SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.2_Missense_Mutation_p.R617C	p.R630C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2137	+			630			Spectrin 4.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1888C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511663	0.85389	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.63096	-0.02;-0.02;-0.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87575	0.2480	10	0.87932	D	0	.	14.4694	0.67506	0.1469:0.853:0.0:0.0	.	617;630	Q01082-3;Q01082	.;SPTB2_HUMAN	C	630;630;617	ENSP00000349259:R630C;ENSP00000374630:R630C;ENSP00000334156:R617C	ENSP00000334156:R617C	R	+	1	0	SPTBN1	54709663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.652000	0.90054	0.655000	0.94253	CGC		0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
GALNT13	114805	broad.mit.edu	37	2	155099286	155099286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:155099286G>A	ENST00000392825.3	+	6	1121	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R185H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	185	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGAAGAACGCTCTGGGTTA	0.388																																						uc002tyr.3																			0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(553-555)CGC>CAC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							56.0	57.0	57.0					2																	155099286		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099286G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.554G>A	2.37:g.155099286G>A	ENSP00000376570:p.Arg185His					GALNT13_uc002tyt.3_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	p.R185H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1121	+			185			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.554G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392340	0.95988	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60548	0.18;0.18	5.63	5.63	0.86233	Glycosyl transferase, family 2 (1);	0.061993	0.64402	D	0.000001	T	0.80994	0.4731	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	D	0.84158	0.0427	10	0.87932	D	0	.	18.665	0.91486	0.0:0.0:1.0:0.0	.	185;185;185	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	H	185	ENSP00000376570:R185H;ENSP00000387239:R185H	ENSP00000376570:R185H	R	+	2	0	GALNT13	154807532	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.665000	0.90641	0.591000	0.81541	CGC		0.388	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
MDH1B	130752	broad.mit.edu	37	2	207615789	207615789	+	Silent	SNP	G	G	A	rs146327472	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:207615789G>A	ENST00000374412.3	-	6	1196	c.921C>T	c.(919-921)gaC>gaT	p.D307D	MDH1B_ENST00000449792.1_Silent_p.D209D|MDH1B_ENST00000454776.2_Silent_p.D307D|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	307					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGATCACGTCTTTAATGT	0.318																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2																			0				ovary(3)|kidney(1)	4						c.(919-921)GAC>GAT		malate dehydrogenase 1B, NAD (soluble)		G		3,4403	6.2+/-15.9	0,3,2200	107.0	108.0	108.0		921	3.6	1.0	2	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	MDH1B	NM_001039845.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		307/519	207615789	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615789G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.921C>T	2.37:g.207615789G>A						MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.D307D|MDH1B_uc010fuj.2_Silent_p.D209D|MDH1B_uc002vbt.2_Intron	p.D307D	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	976	-			307					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.921C>T	CCDS33365.1																																																																																				0.318	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(394-396)CGT>CAT		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
PANX2	56666	broad.mit.edu	37	22	50615879	50615879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr22:50615879C>A	ENST00000395842.2	+	2	738	c.738C>A	c.(736-738)tgC>tgA	p.C246*	PANX2_ENST00000159647.5_Nonsense_Mutation_p.C246*	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	246					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTACCTGTGCACCTACTACG	0.706																																						uc003bjn.3																			0				breast(1)	1						c.(736-738)TGC>TGA		pannexin 2 isoform 1							21.0	21.0	21.0					22																	50615879		2192	4297	6489	SO:0001587	stop_gained	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615879C>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.738C>A	22.37:g.50615879C>A	ENSP00000379183:p.Cys246*					PANX2_uc003bjp.3_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.3_Nonsense_Mutation_p.C246*	p.C246*	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	738	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	246			Helical; (Potential).		B7Z684|Q96RD5|Q9UGX8	Nonsense_Mutation	SNP	ENST00000395842.2	37	c.738C>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719066	0.89205	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	.	.	.	4.68	2.57	0.30868	.	0.112935	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-28.6318	10.272	0.43489	0.0:0.8377:0.0:0.1623	.	.	.	.	X	246	.	ENSP00000159647:C246X	C	+	3	2	PANX2	48958006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.927000	0.56499	0.420000	0.25954	0.484000	0.47621	TGC		0.706	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
ROBO1	6091	broad.mit.edu	37	3	78656067	78656070	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:78656067_78656070delTCTG	ENST00000464233.1	-	29	4670_4673	c.4557_4560delCAGA	c.(4555-4560)gacagafs	p.DR1519fs	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.DR1474fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.DR1419fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.DR1480fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1519					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTGATGATCTGTCTGTTCTTG	0.485																																						uc003dqe.2																			0				large_intestine(2)	2						c.(4555-4560)GACAGAfs		roundabout 1 isoform a																																				SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78656067_78656070delTCTG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4557_4560delCAGA	3.37:g.78656071_78656074delTCTG	ENSP00000420321:p.Asp1519fs					ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	p.D1519fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	29	4765_4768	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1519_1520			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.4557_4560delCAGA	CCDS54611.1																																																																																				0.485	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
POLQ	10721	broad.mit.edu	37	3	121230744	121230744	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:121230744G>C	ENST00000264233.5	-	10	1729	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	534	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCAGAATAGCTCGTATCAT	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1600-1602)GCT>GGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							109.0	106.0	107.0					3																	121230744		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121230744G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1601C>G	3.37:g.121230744G>C	ENSP00000264233:p.Ala534Gly						p.A534G	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	10	1730	-			534			Helicase C-terminal.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1601C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081687	0.94050	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43688	0.94	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.121852	0.56097	D	0.000038	T	0.66848	0.2831	M	0.93016	3.37	0.80722	D	1	P	0.44776	0.843	P	0.50231	0.635	T	0.76154	-0.3063	10	0.72032	D	0.01	.	18.9823	0.92760	0.0:0.0:1.0:0.0	.	534	O75417	DPOLQ_HUMAN	G	157;534;670	ENSP00000264233:A534G	ENSP00000264233:A534G	A	-	2	0	POLQ	122713434	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.040000	0.93783	2.458000	0.83093	0.455000	0.32223	GCT		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
EIF4G1	1981	broad.mit.edu	37	3	184052651	184052651	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:184052651C>G	ENST00000346169.2	+	33	5026	c.4755C>G	c.(4753-4755)ttC>ttG	p.F1585L	EIF4G1_ENST00000342981.4_Missense_Mutation_p.F1586L|FAM131A_ENST00000450976.1_5'Flank|EIF4G1_ENST00000427845.1_Missense_Mutation_p.F1499L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.F1546L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.F1592L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.F1592L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.F1592L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.F1389L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.F1422L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.F1545L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.F1585L|FAM131A_ENST00000418281.1_5'Flank|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000392537.2_Missense_Mutation_p.F1498L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.F1421L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.F1390L|FAM131A_ENST00000383847.2_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1585	EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGCCTTCTTCAAGTGGC	0.607																																						uc003fnp.2																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4753-4755)TTC>TTG		eukaryotic translation initiation factor 4							78.0	72.0	74.0					3																	184052651		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184052651C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4755C>G	3.37:g.184052651C>G	ENSP00000316879:p.Phe1585Leu					EIF4G1_uc003fnt.2_Missense_Mutation_p.F1296L|EIF4G1_uc003fnq.2_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.2_Missense_Mutation_p.F1421L|EIF4G1_uc010hxx.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fns.2_Missense_Mutation_p.F1545L|EIF4G1_uc010hxy.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fnv.3_Missense_Mutation_p.F1586L|EIF4G1_uc003fnu.3_Missense_Mutation_p.F1585L|EIF4G1_uc003fnw.2_Missense_Mutation_p.F1592L|EIF4G1_uc003fny.3_Missense_Mutation_p.F1389L|EIF4G1_uc003foa.2_Missense_Mutation_p.F257L|FAM131A_uc003fob.1_5'Flank|FAM131A_uc003foc.2_5'Flank|FAM131A_uc003fod.1_5'Flank	p.F1585L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		33	4953	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1585			W2.|Necessary but not sufficient for MKNK1- binding.|EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4755C>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359408	0.61403	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.38	3.5	0.40072	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.83603	2.65	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.994	D	0.90729	0.4641	10	0.72032	D	0.01	-3.0311	8.5328	0.33344	0.0:0.812:0.0:0.188	.	1592;1586;1585	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	L	1585;1545;1498;1592;1421;1592;1499;1586;1585;1592;1546;1422;1390;1389	ENSP00000316879:F1585L;ENSP00000391935:F1545L;ENSP00000376320:F1498L;ENSP00000371767:F1592L;ENSP00000317600:F1421L;ENSP00000338020:F1592L;ENSP00000407682:F1499L;ENSP00000343450:F1586L;ENSP00000323737:F1585L;ENSP00000416255:F1592L;ENSP00000395974:F1546L;ENSP00000399858:F1422L;ENSP00000411826:F1390L;ENSP00000404754:F1389L	ENSP00000323737:F1585L	F	+	3	2	EIF4G1	185535345	1.000000	0.71417	0.997000	0.53966	0.397000	0.30659	2.032000	0.41127	1.061000	0.40601	0.555000	0.69702	TTC		0.607	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
SEL1L3	23231	broad.mit.edu	37	4	25819779	25819779	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:25819779C>T	ENST00000399878.3	-	9	1667	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	SEL1L3_ENST00000502949.1_Silent_p.L362L|SEL1L3_ENST00000264868.5_Silent_p.L480L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	515						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCCATCTCCAGCAATGCCT	0.537																																						uc003gru.3																			0					0						c.(1543-1545)CTG>CTA		sel-1 suppressor of lin-12-like 3							77.0	76.0	76.0					4																	25819779		1950	4155	6105	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25819779C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1545G>A	4.37:g.25819779C>T							p.L515L	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			9	1697	-			515					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1545G>A	CCDS47037.1																																																																																				0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
WDR19	57728	broad.mit.edu	37	4	39218764	39218764	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:39218764A>T	ENST00000399820.3	+	13	1414	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	WDR19_ENST00000506503.1_Missense_Mutation_p.K420N|WDR19_ENST00000288634.7_Missense_Mutation_p.K260N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	420					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CTGTGAAAAAATTGAAAGATA	0.343																																						uc003gtv.2																			0				large_intestine(1)	1						c.(1258-1260)AAA>AAT		WD repeat domain 19							68.0	63.0	65.0					4																	39218764		1814	4078	5892	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39218764A>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1260A>T	4.37:g.39218764A>T	ENSP00000382717:p.Lys420Asn					WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.1_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	p.K420N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			13	1414	+			420					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1260A>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471398	0.63737	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	D;D;T	0.96041	-3.89;-3.89;1.15	5.42	0.468	0.16732	WD40 repeat-like-containing domain (1);	0.320352	0.36972	N	0.002316	D	0.94056	0.8095	M	0.78916	2.43	0.34019	D	0.652458	P;P	0.39940	0.573;0.696	B;B	0.42771	0.32;0.397	D	0.91345	0.5100	10	0.17832	T	0.49	-17.3453	11.4984	0.50422	0.3553:0.0:0.6447:0.0	.	420;420	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	N	420;260;420;419	ENSP00000382717:K420N;ENSP00000288634:K260N;ENSP00000423491:K420N	ENSP00000288634:K260N	K	+	3	2	WDR19	38895159	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	0.914000	0.28624	-0.138000	0.11434	0.482000	0.46254	AAA		0.343	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
ZAR1	326340	broad.mit.edu	37	4	48494815	48494815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:48494815C>G	ENST00000327939.4	+	2	1036	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	332					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						ATTACCACTGCAAGGACTGCA	0.418																																						uc003gyd.2																			0					0						c.(994-996)TGC>TGG		zygote arrest 1							213.0	211.0	212.0					4																	48494815		2203	4300	6503	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48494815C>G	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.996C>G	4.37:g.48494815C>G	ENSP00000329803:p.Cys332Trp						p.C332W	NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN			2	996	+			332						Missense_Mutation	SNP	ENST00000327939.4	37	c.996C>G	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697553	0.68386	.	.	ENSG00000182223	ENST00000327939	T	0.57436	0.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77115	-0.2707	10	0.87932	D	0	-19.2179	13.1129	0.59283	0.0:0.9267:0.0:0.0733	.	332	Q86SH2	ZAR1_HUMAN	W	332	ENSP00000329803:C332W	ENSP00000329803:C332W	C	+	3	2	ZAR1	48189572	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	1.919000	0.40015	2.701000	0.92244	0.462000	0.41574	TGC		0.418	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
POLR2B	5431	broad.mit.edu	37	4	57890238	57890238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:57890238G>A	ENST00000381227.1	+	22	3337	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	POLR2B_ENST00000441246.2_Missense_Mutation_p.R968H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R900H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R975H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	975					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCCCCTCTCGTATGACTATT	0.378																																						uc003hcl.1																			0				ovary(2)	2						c.(2923-2925)CGT>CAT		DNA directed RNA polymerase II polypeptide B							134.0	123.0	127.0					4																	57890238		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57890238G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2924G>A	4.37:g.57890238G>A	ENSP00000370625:p.Arg975His					POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	p.R975H	NM_000938	NP_000929	P30876	RPB2_HUMAN			21	2967	+	Glioma(25;0.08)|all_neural(26;0.181)		975					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2924G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687573	0.96784	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	6.02	6.02	0.97574	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97195	0.9860	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	900;975	C9J4M6;P30876	.;RPB2_HUMAN	H	975;900;968;975	ENSP00000370625:R975H;ENSP00000391096:R900H;ENSP00000391452:R968H;ENSP00000312735:R975H	ENSP00000312735:R975H	R	+	2	0	POLR2B	57584995	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.855000	0.99526	2.857000	0.98124	0.650000	0.86243	CGT		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
WWC2	80014	broad.mit.edu	37	4	184210574	184210574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:184210574delC	ENST00000403733.3	+	21	3369	c.3170delC	c.(3169-3171)acafs	p.T1058fs	WWC2_ENST00000448232.2_Frame_Shift_Del_p.T1082fs|WWC2_ENST00000504005.1_Frame_Shift_Del_p.T740fs|WWC2_ENST00000513834.1_Frame_Shift_Del_p.T1009fs|WWC2_ENST00000508747.1_Frame_Shift_Del_p.T186fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1058					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTTAGAAGAACAACACAGGAA	0.537																																						uc010irx.2																			0				ovary(2)|lung(1)	3						c.(3169-3171)ACAfs		WW and C2 domain containing 2							55.0	44.0	48.0					4																	184210574		2203	4300	6503	SO:0001589	frameshift_variant	80014							g.chr4:184210574delC	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3170delC	4.37:g.184210574delC	ENSP00000384222:p.Thr1058fs					WWC2_uc003ivk.3_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.3_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.2_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.3_Frame_Shift_Del_p.T185fs	p.T1057fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	21	3352	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1057					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	ENST00000403733.3	37	c.3170delC	CCDS34109.2																																																																																				0.537	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
MARCH6	10299	broad.mit.edu	37	5	10387160	10387160	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:10387160C>G	ENST00000274140.5	+	5	521	c.389C>G	c.(388-390)cCa>cGa	p.P130R	MARCH6_ENST00000449913.2_Missense_Mutation_p.P82R|MARCH6_ENST00000503788.1_Missense_Mutation_p.P25R	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	130					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGACGCTGCCATTAGATATG	0.423																																						uc003jet.1																			0				ovary(1)|breast(1)	2						c.(388-390)CCA>CGA		membrane-associated ring finger (C3HC4) 6							175.0	147.0	156.0					5																	10387160		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10387160C>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.389C>G	5.37:g.10387160C>G	ENSP00000274140:p.Pro130Arg					MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	p.P130R	NM_005885	NP_005876	O60337	MARH6_HUMAN			5	572	+			130			Extracellular (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.389C>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815017	0.90790	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.54479	1.84;0.57;1.8	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.987	D;D;P	0.85130	0.997;0.988;0.759	T	0.72717	-0.4209	10	0.28530	T	0.3	-15.1112	19.5547	0.95338	0.0:1.0:0.0:0.0	.	25;82;130	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	R	82;25;130	ENSP00000414643:P82R;ENSP00000425930:P25R;ENSP00000274140:P130R	ENSP00000274140:P130R	P	+	2	0	MARCH6	10440160	1.000000	0.71417	0.986000	0.45419	0.934000	0.57294	7.443000	0.80521	2.606000	0.88127	0.650000	0.86243	CCA		0.423	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
ACOT12	134526	broad.mit.edu	37	5	80643615	80643615	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:80643615T>C	ENST00000307624.3	-	6	659	c.631A>G	c.(631-633)Aca>Gca	p.T211A		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	211	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGCCACTGTCTCCATCCAC	0.498																																						uc003khl.3																			0				ovary(1)|kidney(1)	2						c.(631-633)ACA>GCA		acyl-CoA thioesterase 12							233.0	229.0	231.0					5																	80643615		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643615T>C	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.631A>G	5.37:g.80643615T>C	ENSP00000303246:p.Thr211Ala					RNU5E_uc011cto.1_Intron	p.T211A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	6	686	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	211			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.631A>G	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	8.682	0.905433	0.17760	.	.	ENSG00000172497	ENST00000307624	T	0.23348	1.91	5.77	2.11	0.27256	Thioesterase superfamily (1);	0.234553	0.42821	N	0.000653	T	0.16938	0.0407	L	0.33485	1.01	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.08576	-1.0715	10	0.25106	T	0.35	-21.4074	8.8198	0.35018	0.0:0.2195:0.0:0.7805	.	211	Q8WYK0	ACO12_HUMAN	A	211	ENSP00000303246:T211A	ENSP00000303246:T211A	T	-	1	0	ACOT12	80679371	1.000000	0.71417	0.795000	0.32087	0.361000	0.29550	2.604000	0.46274	0.135000	0.18707	-0.250000	0.11733	ACA		0.498	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
STARD4	134429	broad.mit.edu	37	5	110842033	110842033	+	Silent	SNP	T	T	G	rs377260389		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:110842033T>G	ENST00000296632.3	-	3	284	c.150A>C	c.(148-150)ggA>ggC	p.G50G	STARD4_ENST00000502322.1_Silent_p.G50G|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000509887.1_Silent_p.G50G|STARD4_ENST00000512160.1_Silent_p.G50G	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	50	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTTACAGATATCCATTAAATT	0.303																																						uc003kph.1																			0				ovary(1)	1						c.(148-150)GGA>GGC		StAR-related lipid transfer (START) domain							31.0	34.0	33.0					5																	110842033		2191	4280	6471	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110842033T>G	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.150A>C	5.37:g.110842033T>G						STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Silent_p.G50G	p.G50G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	3	234	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	50			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.150A>C	CCDS4104.1																																																																																				0.303	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164	
SOX4	6659	broad.mit.edu	37	6	21595085	21595085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:21595085C>T	ENST00000244745.1	+	1	1114	c.320C>T	c.(319-321)cCt>cTt	p.P107L	SOX4_ENST00000543472.1_Missense_Mutation_p.P107L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	107					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACAAGATCCCTTTCATTCGA	0.602																																						uc003ndi.2																			0					0						c.(319-321)CCT>CTT		SRY (sex determining region Y)-box 4							35.0	36.0	36.0					6																	21595085		2203	4300	6503	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595085C>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.320C>T	6.37:g.21595085C>T	ENSP00000244745:p.Pro107Leu						p.P107L	NM_003107	NP_003098	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1114	+	Ovarian(93;0.163)		107			HMG box.			Missense_Mutation	SNP	ENST00000244745.1	37	c.320C>T	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021690	0.54576	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98381	-4.9;-4.9	5.12	5.12	0.69794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.99342	0.9769	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	17.3307	0.87262	0.0:1.0:0.0:0.0	.	107	Q06945	SOX4_HUMAN	L	107	ENSP00000244745:P107L;ENSP00000438412:P107L	ENSP00000244745:P107L	P	+	2	0	SOX4	21703064	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	5.631000	0.67812	2.365000	0.80145	0.555000	0.69702	CCT		0.602	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107	
VARS2	57176	broad.mit.edu	37	6	30893483	30893483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:30893483A>G	ENST00000321897.5	+	27	3580	c.2948A>G	c.(2947-2949)tAc>tGc	p.Y983C	VARS2_ENST00000542001.1_Missense_Mutation_p.Y843C|VARS2_ENST00000416670.2_Missense_Mutation_p.Y983C|VARS2_ENST00000541562.1_Missense_Mutation_p.Y1013C|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	983					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCAAGTCTACATGGAGCTG	0.647																																						uc003nsc.1																			0				ovary(3)|central_nervous_system(1)	4						c.(2947-2949)TAC>TGC		valyl-tRNA synthetase 2, mitochondrial							14.0	17.0	16.0					6																	30893483		1503	2701	4204	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30893483A>G	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2948A>G	6.37:g.30893483A>G	ENSP00000316092:p.Tyr983Cys					VARS2_uc011dmx.1_Missense_Mutation_p.Y983C|VARS2_uc011dmy.1_Missense_Mutation_p.Y843C|VARS2_uc011dmz.1_Missense_Mutation_p.Y1013C|VARS2_uc011dna.1_Missense_Mutation_p.Y981C|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.Y421C|VARS2_uc010jsg.1_Missense_Mutation_p.Y355C|VARS2_uc010jsh.1_Missense_Mutation_p.Y127C	p.Y983C	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			27	3580	+			983					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2948A>G	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838219	0.51057	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.74	3.07	0.35406	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.460281	0.23014	N	0.052928	T	0.32556	0.0833	M	0.68317	2.08	0.30892	N	0.730245	D;P;D;D	0.67145	0.996;0.953;0.973;0.972	P;B;P;P	0.56216	0.794;0.315;0.724;0.75	T	0.13045	-1.0524	10	0.54805	T	0.06	-13.3864	8.1342	0.31046	0.6523:0.0:0.0:0.3477	.	421;981;1013;983	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	C	983;983;843;1013	ENSP00000316092:Y983C;ENSP00000394802:Y983C;ENSP00000438200:Y843C;ENSP00000441000:Y1013C	ENSP00000316092:Y983C	Y	+	2	0	VARS2	31001462	0.880000	0.30214	0.993000	0.49108	0.982000	0.71751	0.889000	0.28282	0.916000	0.36871	0.533000	0.62120	TAC		0.647	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
PHF1	5252	broad.mit.edu	37	6	33382595	33382595	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:33382595A>G	ENST00000374516.3	+	11	1309	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	PHF1_ENST00000374512.3_Silent_p.G346G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	346					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGAGATGGAGCACTCACCA	0.552											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oeh.2																			0					0						c.(1036-1038)GGA>GGG		PHD finger protein 1 isoform b							56.0	55.0	55.0					6																	33382595		2201	4292	6493	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382595A>G	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1038A>G	6.37:g.33382595A>G			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.G346G|PHF1_uc010jux.2_Silent_p.G146G	p.G346G	NM_024165	NP_077084	O43189	PHF1_HUMAN			11	1274	+		Ovarian(999;0.0443)	346					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1038A>G	CCDS4777.1																																																																																				0.552	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3		
LMBRD1	55788	broad.mit.edu	37	6	70411840	70411840	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:70411840G>C	ENST00000370577.3	-	10	1150	c.921C>G	c.(919-921)gtC>gtG	p.V307V	LMBRD1_ENST00000370570.1_Silent_p.V234V	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	307					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATATTCCCCAGACGATCTAAA	0.269																																						uc003pfa.2																			0				ovary(1)	1						c.(919-921)GTC>GTG		liver regeneration p-53 related protein							50.0	51.0	50.0					6																	70411840		2200	4286	6486	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411840G>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.921C>G	6.37:g.70411840G>C						LMBRD1_uc003pey.2_Silent_p.V103V|LMBRD1_uc003pez.2_Silent_p.V234V|LMBRD1_uc010kal.2_Silent_p.V234V|LMBRD1_uc003pfb.2_RNA	p.V307V	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			10	1036	-			307			Helical; Name=6; (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.921C>G	CCDS4969.1																																																																																				0.269	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
SYNE1	23345	broad.mit.edu	37	6	152737569	152737569	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:152737569A>G	ENST00000367255.5	-	41	6604	c.6003T>C	c.(6001-6003)acT>acC	p.T2001T	SYNE1_ENST00000265368.4_Silent_p.T2001T|SYNE1_ENST00000423061.1_Silent_p.T2008T|SYNE1_ENST00000341594.5_Silent_p.T2038T|SYNE1_ENST00000448038.1_Silent_p.T2008T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2001					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTTTGTCAGTCCTTTCTT	0.448										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6001-6003)ACT>ACC		spectrin repeat containing, nuclear envelope 1							237.0	250.0	246.0					6																	152737569		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737569A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6003T>C	6.37:g.152737569A>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.T2008T|SYNE1_uc003qou.3_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	p.T2001T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6605	-		Ovarian(120;0.0955)	2001			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6003T>C	CCDS5236.2																																																																																				0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
CTTNBP2	83992	broad.mit.edu	37	7	117431218	117431218	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr7:117431218G>A	ENST00000160373.3	-	4	2123	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	678					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACCTGGTCTACAGGAT	0.468																																						uc003vjf.2																			0				ovary(4)|central_nervous_system(1)	5						c.(2032-2034)CCA>TCA		cortactin binding protein 2							114.0	108.0	110.0					7																	117431218		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431218G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2032C>T	7.37:g.117431218G>A	ENSP00000160373:p.Pro678Ser						p.P678S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	2124	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		678					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2032C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381049	0.24944	.	.	ENSG00000077063	ENST00000160373	T	0.66995	-0.24	5.53	1.72	0.24424	.	0.291405	0.42821	D	0.000645	T	0.53738	0.1815	L	0.52266	1.64	0.45502	D	0.99846	B	0.33103	0.397	B	0.28638	0.092	T	0.40869	-0.9540	10	0.27082	T	0.32	0.4248	9.8944	0.41309	0.0:0.1566:0.5111:0.3324	.	678	Q8WZ74	CTTB2_HUMAN	S	678	ENSP00000160373:P678S	ENSP00000160373:P678S	P	-	1	0	CTTNBP2	117218454	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.766000	0.38491	0.102000	0.17638	0.563000	0.77884	CCA		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
XKR9	389668	broad.mit.edu	37	8	71593354	71593354	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:71593354G>T	ENST00000408926.3	+	3	595	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	XKR9_ENST00000520030.1_Missense_Mutation_p.D21Y|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	21						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACGTAACTGATTTAATTGT	0.318																																						uc003xyq.2																			0				ovary(1)|skin(1)	2						c.(61-63)GAT>TAT		XK, Kell blood group complex subunit-related							184.0	183.0	183.0					8																	71593354		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71593354G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.61G>T	8.37:g.71593354G>T	ENSP00000386141:p.Asp21Tyr					XKR9_uc010lze.2_Missense_Mutation_p.D21Y|XKR9_uc010lzd.2_5'UTR	p.D21Y	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	595	+	Breast(64;0.0716)		21			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.61G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997723	0.74818	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.75050	-0.9;-0.9;-0.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87099	0.6093	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88765	0.3260	10	0.87932	D	0	-16.1329	15.9921	0.80214	0.0:0.0:1.0:0.0	.	21	Q5GH70	XKR9_HUMAN	Y	21	ENSP00000386141:D21Y;ENSP00000431088:D21Y;ENSP00000428904:D21Y	ENSP00000386141:D21Y	D	+	1	0	XKR9	71755908	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.831000	0.69330	2.551000	0.86045	0.585000	0.79938	GAT		0.318	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
EFR3A	23167	broad.mit.edu	37	8	132966108	132966108	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:132966108A>G	ENST00000254624.5	+	6	757	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	EFR3A_ENST00000334503.4_Missense_Mutation_p.K178E|EFR3A_ENST00000519656.1_Missense_Mutation_p.K142E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	178						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGGTTCGCAAAACAGTCAA	0.353																																						uc003yte.2																			0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(532-534)AAA>GAA		EFR3 homolog A							71.0	58.0	63.0					8																	132966108		2201	4296	6497	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132966108A>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.532A>G	8.37:g.132966108A>G	ENSP00000254624:p.Lys178Glu						p.K178E	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		6	733	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		178					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.532A>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	32	5.173399	0.94807	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.19250	2.16;2.16;2.16	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55042	-0.8202	10	0.87932	D	0	-28.6953	14.9521	0.71083	1.0:0.0:0.0:0.0	.	178	Q14156	EFR3A_HUMAN	E	178;178;178;142	ENSP00000254624:K178E;ENSP00000334769:K178E;ENSP00000428086:K142E	ENSP00000254624:K178E	K	+	1	0	EFR3A	133035290	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.248000	0.95456	2.123000	0.65237	0.397000	0.26171	AAA		0.353	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
FBXO10	26267	broad.mit.edu	37	9	37522884	37522884	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:37522884T>C	ENST00000432825.2	-	7	1916	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	FBXO10_ENST00000541829.1_Missense_Mutation_p.Y148C|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	623					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATCTGAATAGCCAAAGCA	0.542																																						uc004aab.2																			0				lung(5)	5						c.(1867-1869)TAT>TGT		F-box protein 10							74.0	82.0	80.0					9																	37522884		1976	4144	6120	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37522884T>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1868A>G	9.37:g.37522884T>C	ENSP00000403802:p.Tyr623Cys					FBXO10_uc004aac.2_Missense_Mutation_p.Y639C|FBXO10_uc004aad.2_Missense_Mutation_p.Y173C	p.Y623C	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	7	1917	-			623			PbH1 10.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.1868A>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335510	0.60853	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T	0.79454	-1.27	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);	0.210137	0.42821	D	0.000660	D	0.84170	0.5413	L	0.54323	1.7	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.983;0.935;0.975	D	0.84254	0.0479	10	0.45353	T	0.12	-27.5831	13.5946	0.61982	0.0:0.0:0.0:1.0	.	502;148;623	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	C	623;148	ENSP00000403802:Y623C	ENSP00000403802:Y623C	Y	-	2	0	FBXO10	37512884	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	3.600000	0.54052	2.051000	0.60960	0.533000	0.62120	TAT		0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
SPATA31C2	645961	broad.mit.edu	37	9	90744952	90744952	+	IGR	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:90744952C>T								U6 (131702 upstream) : U3 (244231 downstream)																							GAGGCTGTTTCTTTGATGGCA	0.438																																						uc011lti.1																			0											c.(2998-3000)AAG>AAA		SubName: Full=cDNA FLJ59639;							87.0	77.0	80.0					9																	90744952		692	1590	2282	SO:0001628	intergenic_variant	0							g.chr9:90744952C>T																													9.37:g.90744952C>T						uc004apx.1_5'Flank	p.K1000K							4	3029	-									Silent	SNP		37	c.3000G>A																																																																																				0	0.438								
OR13C8	138802	broad.mit.edu	37	9	107332296	107332296	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:107332296T>C	ENST00000335040.1	+	1	848	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTCCCTTTTCTATGGAGTG	0.408																																						uc011lvo.1																			0				ovary(1)|skin(1)	2						c.(847-849)TTC>TCC		olfactory receptor, family 13, subfamily C,							97.0	86.0	90.0					9																	107332296		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332296T>C		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.848T>C	9.37:g.107332296T>C	ENSP00000334068:p.Phe283Ser						p.F283S	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	848	+			283			Helical; Name=7; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.848T>C	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676458	0.47886	.	.	ENSG00000186943	ENST00000335040	T	0.00216	8.53	4.9	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.311897	0.28082	N	0.016668	T	0.00412	0.0013	M	0.68593	2.085	0.31545	N	0.659498	D	0.63880	0.993	D	0.70227	0.968	T	0.49762	-0.8905	10	0.59425	D	0.04	.	8.946	0.35758	0.0:0.0889:0.0:0.9111	.	283	Q8NGS7	O13C8_HUMAN	S	283	ENSP00000334068:F283S	ENSP00000334068:F283S	F	+	2	0	OR13C8	106372117	0.000000	0.05858	1.000000	0.80357	0.802000	0.45316	0.413000	0.21148	1.002000	0.39104	0.459000	0.35465	TTC		0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
GEMIN8	54960	broad.mit.edu	37	X	14027172	14027172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:14027172G>A	ENST00000380523.4	-	5	907	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GEMIN8_ENST00000398355.3_Missense_Mutation_p.R197C	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	197					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TCGGCCTGGCGCCGCTCACCA	0.612																																						uc004cwb.2																			0					0						c.(589-591)CGC>TGC		gem (nuclear organelle) associated protein 8							74.0	69.0	71.0					X																	14027172		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027172G>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.589C>T	X.37:g.14027172G>A	ENSP00000369895:p.Arg197Cys					GEMIN8_uc004cwc.2_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.2_Missense_Mutation_p.R197C	p.R197C	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			5	932	-			197					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.589C>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.967392	0.74131	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.54279	0.58;0.58	5.42	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75747	-0.3209	10	0.62326	D	0.03	.	12.7847	0.57498	0.0:0.0:0.7309:0.2691	.	197	Q9NWZ8	GEMI8_HUMAN	C	197	ENSP00000369895:R197C;ENSP00000381398:R197C	ENSP00000369895:R197C	R	-	1	0	GEMIN8	13937093	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	2.058000	0.41374	2.291000	0.77112	0.529000	0.55759	CGC		0.612	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856	
ZNF645	158506	broad.mit.edu	37	X	22292090	22292090	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:22292090A>T	ENST00000323684.1	+	1	1026	c.982A>T	c.(982-984)Att>Ttt	p.I328F		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	328	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGATATATTATTGTAAAGGT	0.438																																						uc004dai.1																			0				lung(1)|pancreas(1)	2						c.(982-984)ATT>TTT		zinc finger protein 645							125.0	105.0	112.0					X																	22292090		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292090A>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.982A>T	X.37:g.22292090A>T	ENSP00000323348:p.Ile328Phe						p.I328F	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	1031	+			328			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.982A>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106163	0.37145	.	.	ENSG00000175809	ENST00000323684	T	0.34072	1.38	2.36	-1.67	0.08238	.	0.139694	0.47093	U	0.000258	T	0.36963	0.0986	L	0.50333	1.59	0.09310	N	1	D	0.57899	0.981	P	0.57101	0.813	T	0.27157	-1.0082	10	0.66056	D	0.02	.	2.7485	0.05273	0.5241:0.0:0.2749:0.2009	.	328	Q8N7E2	ZN645_HUMAN	F	328	ENSP00000323348:I328F	ENSP00000323348:I328F	I	+	1	0	ZNF645	22202011	0.921000	0.31238	0.000000	0.03702	0.008000	0.06430	3.097000	0.50251	-0.522000	0.06417	0.486000	0.48141	ATT		0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
CXorf22	170063	broad.mit.edu	37	X	35985840	35985840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:35985840C>T	ENST00000297866.5	+	10	1771	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	569										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCATGACACGCACTCACAA	0.453																																						uc004ddj.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1705-1707)CGC>TGC		hypothetical protein LOC170063							128.0	98.0	108.0					X																	35985840		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985840C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1705C>T	X.37:g.35985840C>T	ENSP00000297866:p.Arg569Cys					CXorf22_uc010ngv.2_RNA	p.R569C	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			10	1764	+			569					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1705C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264365	0.23136	.	.	ENSG00000165164	ENST00000297866	T	0.14893	2.47	5.35	-10.5	0.00291	.	3.690700	0.00754	N	0.001095	T	0.07279	0.0184	N	0.16478	0.41	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.22417	-1.0217	10	0.42905	T	0.14	-29.6035	0.1415	0.00084	0.339:0.2048:0.1732:0.283	.	569	Q6ZTR5	CX022_HUMAN	C	569	ENSP00000297866:R569C	ENSP00000297866:R569C	R	+	1	0	CXorf22	35895761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.969000	0.01506	-2.074000	0.00877	-1.449000	0.01048	CGC		0.453	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
EFHC2	80258	broad.mit.edu	37	X	44037748	44037748	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:44037748C>A	ENST00000420999.1	-	12	1897	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	605							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACGGTAGTGACGTGCAATGGT	0.373																																						uc004dgb.3																			0				breast(3)|ovary(2)|central_nervous_system(1)	6						c.(1813-1815)CGT>CTT		EF-hand domain (C-terminal) containing 2							56.0	49.0	51.0					X																	44037748		1858	4089	5947	SO:0001583	missense	80258						calcium ion binding	g.chrX:44037748C>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1814G>T	X.37:g.44037748C>A	ENSP00000404232:p.Arg605Leu						p.R605L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			13	1904	-			605					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.1814G>T	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160588	0.57368	.	.	ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999	T;T	0.80393	-1.37;-1.37	5.53	5.53	0.82687	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.88860	0.3325	10	0.51188	T	0.08	-13.3911	13.987	0.64341	0.0:1.0:0.0:0.0	.	605	Q5JST6	EFHC2_HUMAN	L	18;605;633	ENSP00000333823:R605L;ENSP00000404232:R633L	ENSP00000333823:R605L	R	-	2	0	EFHC2	43922692	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	4.402000	0.59722	2.464000	0.83262	0.594000	0.82650	CGT		0.373	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	
ZNF674	641339	broad.mit.edu	37	X	46388335	46388335	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:46388335T>C	ENST00000523374.1	-	4	235	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	ZNF674_ENST00000414387.2_Missense_Mutation_p.T9A	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCCTTGAAGGTCAATGATTCC	0.552																																						uc004dgr.2																			0				breast(2)	2						c.(25-27)ACC>GCC		zinc finger family member 674 isoform 1							181.0	131.0	148.0					X																	46388335		2203	4300	6503	SO:0001583	missense	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46388335T>C	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.25A>G	X.37:g.46388335T>C	ENSP00000429148:p.Thr9Ala					ZNF674_uc011mlg.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	p.T9A	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			4	252	-			9			KRAB.		B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	c.25A>G	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211371	0.39102	.	.	ENSG00000251192	ENST00000523374;ENST00000414387;ENST00000518708	T;T;T	0.02812	4.15;4.15;4.15	2.14	2.14	0.27477	Krueppel-associated box (4);	.	.	.	.	T	0.04543	0.0124	M	0.72576	2.205	0.09310	N	1	B;B;B	0.25235	0.121;0.025;0.004	B;B;B	0.18561	0.022;0.01;0.01	T	0.23332	-1.0191	9	0.52906	T	0.07	.	7.555	0.27819	0.0:0.0:0.0:1.0	.	9;9;9	E9PHQ4;E5RHV3;Q2M3X9	.;.;ZN674_HUMAN	A	9	ENSP00000429148:T9A;ENSP00000428248:T9A;ENSP00000429646:T9A	ENSP00000428248:T9A	T	-	1	0	ZNF674	46273279	0.003000	0.15002	0.024000	0.17045	0.530000	0.34684	0.468000	0.22051	1.105000	0.41606	0.373000	0.22412	ACC		0.552	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
CCDC120	90060	broad.mit.edu	37	X	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	rs147084360		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:48920041G>A	ENST00000376396.3	+	4	311	c.92G>A	c.(91-93)cGt>cAt	p.R31H	CCDC120_ENST00000422185.2_Missense_Mutation_p.R31H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R19H|CCDC120_ENST00000597275.1_Missense_Mutation_p.R31H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R31H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R66H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	31										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AAGTCAGAGCGTCTGCGGGGG	0.647																																						uc010nik.2																			0				pancreas(1)	1						c.(91-93)CGT>CAT		coiled-coil domain containing 120 isoform 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	27.0	27.0	27.0		92,56,56,92	5.6	1.0	X	dbSNP_134	27	2,6725		0,2,2426,1871	yes	missense,missense,missense,missense	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	29,29,29,29	0,2,4058,2442	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging	31/662,19/650,19/619,31/631	48920041	2,10560	2203	4299	6502	SO:0001583	missense	90060						protein binding	g.chrX:48920041G>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.92G>A	X.37:g.48920041G>A	ENSP00000365577:p.Arg31His					CCDC120_uc011mmq.1_Missense_Mutation_p.R19H|CCDC120_uc004dmf.2_Missense_Mutation_p.R31H|CCDC120_uc010nil.2_Missense_Mutation_p.R31H|CCDC120_uc011mmr.1_Missense_Mutation_p.R31H|CCDC120_uc011mms.1_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	p.R31H	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			4	599	+			31					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.92G>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433266	0.83776	0.0	2.97E-4	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000017	T	0.65417	0.2689	L	0.33245	0.995	0.36797	D	0.885164	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.70745	-0.4788	9	0.49607	T	0.09	-4.0291	13.1355	0.59407	0.0:0.1567:0.8433:0.0	.	19;66;19;31	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	H	31;31;19	.	ENSP00000365577:R31H	R	+	2	0	CCDC120	48806985	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.137000	0.58010	2.374000	0.81015	0.529000	0.55759	CGT		0.647	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626	
LAS1L	81887	broad.mit.edu	37	X	64737941	64737941	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:64737941G>T	ENST00000374811.3	-	12	1893	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	LAS1L_ENST00000374804.5_Missense_Mutation_p.P559H|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.P601H	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	618					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCGGCAGTGGGGGACTCTTG	0.517																																						uc004dwa.1																			0				ovary(3)|large_intestine(1)	4						c.(1852-1854)CCC>CAC		LAS1-like							133.0	108.0	116.0					X																	64737941		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64737941G>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1853C>A	X.37:g.64737941G>T	ENSP00000363944:p.Pro618His					LAS1L_uc004dwc.1_Missense_Mutation_p.P601H|LAS1L_uc004dwd.1_Missense_Mutation_p.P559H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H|LAS1L_uc004dvz.1_Missense_Mutation_p.P131H	p.P618H	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			12	1925	-			618					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1853C>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	5.848	0.340652	0.11069	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.77	0.997	0.19851	.	1.168760	0.06296	N	0.700014	T	0.36082	0.0954	L	0.44542	1.39	0.09310	N	1	P;P;P;D	0.61697	0.815;0.948;0.718;0.99	P;P;B;P	0.50490	0.564;0.54;0.361;0.642	T	0.26326	-1.0106	9	0.15499	T	0.54	.	7.0453	0.25042	0.0:0.3155:0.4607:0.2238	.	559;601;618;131	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	H	601;618;559	.	ENSP00000363937:P559H	P	-	2	0	LAS1L	64654666	0.000000	0.05858	0.002000	0.10522	0.774000	0.43823	-0.307000	0.08167	0.108000	0.17862	0.600000	0.82982	CCC		0.517	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
STARD8	9754	broad.mit.edu	37	X	67943638	67943638	+	Silent	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:67943638C>G	ENST00000252336.6	+	12	3102	c.2730C>G	c.(2728-2730)gtC>gtG	p.V910V	STARD8_ENST00000374597.3_Silent_p.V910V|STARD8_ENST00000374599.3_Silent_p.V990V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	910	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCACTATGTCACCGACAGCA	0.652																																						uc004dxa.2																			0				breast(3)|ovary(2)|pancreas(1)	6						c.(2728-2730)GTC>GTG		StAR-related lipid transfer (START) domain							34.0	31.0	32.0					X																	67943638		2181	4254	6435	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67943638C>G	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2730C>G	X.37:g.67943638C>G						STARD8_uc004dxb.2_Silent_p.V990V|STARD8_uc004dxc.3_Silent_p.V910V	p.V910V	NM_014725	NP_055540	Q92502	STAR8_HUMAN			12	3102	+			910			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.2730C>G	CCDS14390.1																																																																																				0.652	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
ZMYM3	9203	broad.mit.edu	37	X	70469372	70469372	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:70469372A>G	ENST00000353904.2	-	7	1596	c.1409T>C	c.(1408-1410)cTc>cCc	p.L470P	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.L470P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.L472P|ZMYM3_ENST00000373984.3_Missense_Mutation_p.L472P|ZMYM3_ENST00000373982.1_Missense_Mutation_p.L472P|ZMYM3_ENST00000373998.1_Missense_Mutation_p.L470P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.L470P|ZMYM3_ENST00000373978.1_3'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGTGGAAGAGGAGCTCAGG	0.562																																						uc004dzh.1																			0				ovary(1)	1						c.(1408-1410)CTC>CCC		zinc finger protein 261							107.0	76.0	87.0					X																	70469372		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469372A>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1409T>C	X.37:g.70469372A>G	ENSP00000343909:p.Leu470Pro					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.1_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.1_Missense_Mutation_p.L201P|ZMYM3_uc004dzk.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzl.3_Missense_Mutation_p.L470P|ZMYM3_uc004dzm.3_Missense_Mutation_p.L470P	p.L470P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			7	1496	-	Renal(35;0.156)		470					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.1409T>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	a	15.93	2.979007	0.53827	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.58358	0.93;0.34;0.93;0.93;0.93;0.43;0.43	4.75	4.75	0.60458	TRASH (1);Zinc finger, MYM-type (1);	0.219310	0.30850	N	0.008758	T	0.68869	0.3048	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.977;0.981	D;D;P;D	0.64877	0.93;0.93;0.867;0.918	T	0.73404	-0.3993	10	0.87932	D	0	-12.5377	13.5176	0.61549	1.0:0.0:0.0:0.0	.	472;470;470;470	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	P	470;470;470;472;472;472;470	ENSP00000322845:L470P;ENSP00000363110:L470P;ENSP00000343909:L470P;ENSP00000363096:L472P;ENSP00000363100:L472P;ENSP00000363094:L472P;ENSP00000363093:L470P	ENSP00000322845:L470P	L	-	2	0	ZMYM3	70386097	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.756000	0.74919	1.765000	0.52091	0.378000	0.23410	CTC		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
ATRX	546	broad.mit.edu	37	X	76778818	76778818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:76778818T>C	ENST00000373344.5	-	31	6975	c.6761A>G	c.(6760-6762)cAt>cGt	p.H2254R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H2216R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2254	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.H2254R(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGAGAATCATGTTCATGGTA	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(6760-6762)CAT>CGT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						232.0	194.0	207.0					X																	76778818		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778818T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6761A>G	X.37:g.76778818T>C	ENSP00000362441:p.His2254Arg					ATRX_uc004ecq.3_Missense_Mutation_p.H2216R|ATRX_uc004eco.3_Missense_Mutation_p.H2039R	p.H2254R	NM_000489	NP_000480	P46100	ATRX_HUMAN			31	6993	-			2254					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6761A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456434	0.43634	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95412	-3.7;-3.7	5.35	5.35	0.76521	.	0.000000	0.85682	U	0.000000	D	0.97455	0.9167	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.98141	1.0436	10	0.87932	D	0	-10.035	14.4136	0.67135	0.0:0.0:0.0:1.0	.	2216;2254	P46100-4;P46100	.;ATRX_HUMAN	R	2254;2216	ENSP00000362441:H2254R;ENSP00000378967:H2216R	ENSP00000362441:H2254R	H	-	2	0	ATRX	76665474	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.694000	0.84235	1.784000	0.52394	0.437000	0.28790	CAT		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
HDX	139324	broad.mit.edu	37	X	83724095	83724095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:83724095delC	ENST00000297977.5	-	3	747	c.636delG	c.(634-636)aagfs	p.K212fs	HDX_ENST00000506585.2_Frame_Shift_Del_p.K154fs|HDX_ENST00000373177.2_Frame_Shift_Del_p.K212fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	212						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACAGAAGGCTTTTGAGGTA	0.418																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(634-636)AAGfs		highly divergent homeobox							156.0	137.0	144.0					X																	83724095		2203	4300	6503	SO:0001589	frameshift_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724095delC	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.636delG	X.37:g.83724095delC	ENSP00000297977:p.Lys212fs					HDX_uc011mqv.1_Frame_Shift_Del_p.K212fs|HDX_uc004eel.1_Frame_Shift_Del_p.K154fs	p.K212fs	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	745	-			212					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Frame_Shift_Del	DEL	ENST00000297977.5	37	c.636delG	CCDS35342.1																																																																																				0.418	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
COL4A5	1287	broad.mit.edu	37	X	107840792	107840792	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:107840792A>G	ENST00000361603.2	+	24	2017	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	COL4A5_ENST00000328300.6_Silent_p.G591G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	591	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCCGAAAGGAGAGCCTGTGA	0.463									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1																			0				ovary(3)|central_nervous_system(1)	4						c.(1771-1773)GGA>GGG		type IV collagen alpha 5 isoform 2 precursor							44.0	36.0	39.0					X																	107840792		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840792A>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1773A>G	X.37:g.107840792A>G						COL4A5_uc011mso.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	p.G591G	NM_033380	NP_203699	P29400	CO4A5_HUMAN			24	1975	+			591			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1773A>G	CCDS14543.1																																																																																				0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
GUCY2F	2986	broad.mit.edu	37	X	108708484	108708484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:108708484C>T	ENST00000218006.2	-	3	1210	c.919G>A	c.(919-921)Gcc>Acc	p.A307T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	307					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAGGCTTCCCGGAGC	0.488																																						uc004eod.3																			0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(919-921)GCC>ACC		guanylate cyclase 2F precursor							147.0	126.0	133.0					X																	108708484		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708484C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.919G>A	X.37:g.108708484C>T	ENSP00000218006:p.Ala307Thr					GUCY2F_uc011msq.1_RNA	p.A307T	NM_001522	NP_001513	P51841	GUC2F_HUMAN			3	1195	-			307			Extracellular (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.919G>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596655	0.86953	.	.	ENSG00000101890	ENST00000218006	T	0.79845	-1.31	3.94	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	M	0.81802	2.56	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.90057	0.4153	10	0.66056	D	0.02	.	12.899	0.58115	0.0:1.0:0.0:0.0	.	307	P51841	GUC2F_HUMAN	T	307	ENSP00000218006:A307T	ENSP00000218006:A307T	A	-	1	0	GUCY2F	108595140	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.117000	0.77129	2.201000	0.70794	0.600000	0.82982	GCC		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
