#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRNT	149830	broad.mit.edu	37	20	4713271	4713271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:4713271G>A	ENST00000326539.2	-	2	989	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F			Q86SH4	PRNT_HUMAN	prion protein (testis specific)	18						extracellular region (GO:0005576)				endometrium(2)|lung(5)	7						aggtggagaagatgggaaaga	0.478																																						ENST00000326539.2																			0				endometrium(2)|lung(5)	7						c.(52-54)Ctt>Ttt									149.0	134.0	139.0					20																	4713271		2203	4300	6503	SO:0001583	missense	0							g.chr20:4713271G>A	AL137296, AJ427539		20p13	2013-04-02			ENSG00000180259	ENSG00000180259			18046	other	unknown	"""M8 protein"""					12514748	Standard	NR_024267		Approved	M8	uc010zqq.2	Q86SH4	OTTHUMG00000031785	ENST00000326539.2:c.52C>T	20.37:g.4713271G>A	ENSP00000321242:p.Leu18Phe					PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F	p.L18F							2	989	-								B2RPD9|B7ZBI9	Missense_Mutation	SNP	ENST00000326539.2	37	c.52C>T		.	.	.	.	.	.	.	.	.	.	G	7.943	0.743172	0.15642	.	.	ENSG00000180259	ENST00000418528;ENST00000326539;ENST00000423718	T;T;T	0.57595	0.39;0.39;0.39	1.43	0.392	0.16288	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46219	-0.9207	6	0.87932	D	0	.	4.6825	0.12741	0.0:0.0:0.6295:0.3705	.	.	.	.	F	18	ENSP00000409280:L18F;ENSP00000321242:L18F;ENSP00000404306:L18F	ENSP00000321242:L18F	L	-	1	0	PRNT	4661271	0.023000	0.18921	0.002000	0.10522	0.085000	0.17905	0.387000	0.20718	0.144000	0.18951	0.514000	0.50259	CTT		0.478	PRNT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000253006.2	NM_177549		7	5	0	0	0	1	0	7	5				
AFP	174	broad.mit.edu	37	4	74301968	74301968	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:74301968T>G	ENST00000395792.2	+	0	89				AFP_ENST00000226359.2_De_novo_Start_OutOfFrame	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAACAAAATAACTAGCAAC	0.333									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22								alpha-fetoprotein							53.0	55.0	54.0					4																	74301968		2203	4298	6501			174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74301968T>G	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.-12T>G	4.37:g.74301968T>G						AFP_ENST00000226359.2_De_novo_Start_OutOfFrame		NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		0	89	+	Breast(15;0.00102)							B2RBU3	Translation_Start_Site	SNP	ENST00000395792.2	37		CCDS3556.1																																																																																				0.333	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			8	14	0	0	0	1	0	8	14				
ADAM30	11085	broad.mit.edu	37	1	120437550	120437550	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:120437550G>A	ENST00000369400.1	-	1	1568	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	470	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTCCCGTCGCAGTACTCTG	0.483																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1408-1410)tgC>tgT		ADAM metallopeptidase domain 30							111.0	101.0	105.0					1																	120437550		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437550G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1410C>T	1.37:g.120437550G>A							p.C470C	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1568	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	470			Disintegrin.		A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.1410C>T	CCDS907.1																																																																																				0.483	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		13	74	0	0	0	1	0	13	74				
TPPP2	122664	broad.mit.edu	37	14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	ENST00000321760.6	+	2	165	c.17A>C	c.(16-18)gAa>gCa	p.E6A	NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	6						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522																																						ENST00000321760.6																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(16-18)gAa>gCa		tubulin polymerization-promoting protein family member 2							78.0	55.0	63.0					14																	21498757		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21498757A>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.17A>C	14.37:g.21498757A>C	ENSP00000317595:p.Glu6Ala					NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A|TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A	p.E6A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	165	+	all_cancers(95;0.000759)		6					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.17A>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566887	0.45694	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.05	2.36	0.29203	.	0.169508	0.50627	D	0.000103	T	0.43700	0.1259	L	0.50847	1.595	0.43191	D	0.99502	P	0.34955	0.477	B	0.41946	0.371	T	0.19614	-1.0300	10	0.40728	T	0.16	-20.8615	7.7234	0.28746	0.7916:0.0:0.2084:0.0	.	6	P59282	TPPP2_HUMAN	A	6;6;6;6;1	ENSP00000317595:E6A;ENSP00000427504:E6A;ENSP00000435356:E6A;ENSP00000423171:E6A;ENSP00000421438:E1A	ENSP00000317595:E6A	E	+	2	0	TPPP2	20568597	0.206000	0.23470	0.822000	0.32727	0.120000	0.20174	2.411000	0.44600	0.240000	0.21263	0.533000	0.62120	GAA		0.522	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		3	21	0	0	0	1	0	3	21				
CPAMD8	27151	broad.mit.edu	37	19	17122404	17122404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17122404C>T	ENST00000443236.1	-	4	603	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.R144Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	144						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACTCACCTCGGTGCTGGGG	0.602																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(571-573)cGa>cAa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							98.0	102.0	101.0					19																	17122404		1962	4143	6105	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122404C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.572G>A	19.37:g.17122404C>T	ENSP00000402505:p.Arg191Gln					CPAMD8_ENST00000388925.4_Missense_Mutation_p.R144Q|CTD-2528A14.1_ENST00000595134.1_RNA	p.R191Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			4	603	-			144					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.572G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.872|9.872	1.199167|1.199167	0.22121|0.22121	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.73258	.|-0.73;-0.73	2.34|2.34	1.28|1.28	0.21552|0.21552	.|Alpha-2-macroglobulin, N-terminal (1);	.|0.212911	.|0.29806	.|U	.|0.011149	T|T	0.53254|0.53254	0.1785|0.1785	L|L	0.36672|0.36672	1.1|1.1	0.32311|0.32311	N|N	0.5637|0.5637	.|D	.|0.59357	.|0.985	.|P	.|0.45660	.|0.489	T|T	0.57057|0.57057	-0.7876|-0.7876	5|10	.|0.14656	.|T	.|0.56	.|.	3.1847|3.1847	0.06597|0.06597	0.0:0.4768:0.0:0.5232|0.0:0.4768:0.0:0.5232	.|.	.|144	.|Q8IZJ3	.|CPMD8_HUMAN	K|Q	202|191;144	.|ENSP00000291440:R191Q;ENSP00000373577:R144Q	.|ENSP00000291440:R191Q	E|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16983404|16983404	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.330000|0.330000	0.28571|0.28571	1.393000|1.393000	0.34497|0.34497	1.281000|1.281000	0.44480|0.44480	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		9	158	0	0	0	1	0	9	158				
MIR371B	100616185	broad.mit.edu	37	19	54291978	54291978	+	lincRNA	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:54291978C>T	ENST00000595160.1	-	0	0				MIR373_ENST00000362273.1_RNA|MIR372_ENST00000362225.1_RNA|MIR371A_ENST00000362161.1_RNA|AC008753.4_ENST00000597420.1_lincRNA	NR_029864.1|NR_029865.1|NR_039909.1				microRNA 371b																		AAAATGGGGGCGCTTTCCTTT	0.522																																						ENST00000362273.1																			0																				84.0	88.0	87.0					19																	54291978		1556	3552	5108			0							g.chr19:54291978C>T			19	2011-09-12				ENSG00000269877		"""ncRNAs / Micro RNAs"""	41863	non-coding RNA	RNA, micro							Standard	NR_039909		Approved	hsa-mir-371b	uc021vba.1				19.37:g.54291978C>T								NR_029866.1						0	20	+									RNA	SNP	ENST00000595160.1	37																																																																																						0.522	MIR371B-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465677.1	NR_039909		2	1	0	0	0	1	0	2	1				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	70	0	0	0	1	0	3	70				
USP36	57602	broad.mit.edu	37	17	76832339	76832339	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:76832339A>G	ENST00000542802.3	-	3	550	c.107T>C	c.(106-108)cTt>cCt	p.L36P	USP36_ENST00000312010.6_Missense_Mutation_p.L36P|USP36_ENST00000589424.1_Missense_Mutation_p.L36P|USP36_ENST00000590546.2_Missense_Mutation_p.L36P			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	36					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTCTGTAAAAGGACCTTCTT	0.517																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(106-108)cTt>cCt		ubiquitin specific peptidase 36							69.0	68.0	68.0					17																	76832339		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76832339A>G	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.107T>C	17.37:g.76832339A>G	ENSP00000441214:p.Leu36Pro					USP36_ENST00000589424.1_Missense_Mutation_p.L36P|USP36_ENST00000590546.2_Missense_Mutation_p.L36P|USP36_ENST00000542802.2_Missense_Mutation_p.L36P	p.L36P	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		3	431	-			36					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.107T>C	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241657	0.79912	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.16324	2.35;2.35	5.97	5.97	0.96955	.	0.059563	0.64402	D	0.000003	T	0.46756	0.1409	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51052	-0.8754	10	0.87932	D	0	-19.34	15.4208	0.75009	1.0:0.0:0.0:0.0	.	36;36	Q8IXW9;Q9P275-2	.;.	P	36	ENSP00000310590:L36P;ENSP00000441214:L36P	ENSP00000310590:L36P	L	-	2	0	USP36	74343934	1.000000	0.71417	0.931000	0.37212	0.660000	0.38997	8.280000	0.89903	2.287000	0.76781	0.482000	0.46254	CTT		0.517	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		3	48	0	0	0	1	0	3	48				
OIT3	170392	broad.mit.edu	37	10	74673065	74673065	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	ENST00000334011.5	+	6	1008		c.e6-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.e6-1		oncoprotein induced transcript 3							207.0	208.0	208.0					10																	74673065		2203	4300	6503	SO:0001630	splice_region_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74673065G>C		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.791-1G>C	10.37:g.74673065G>C								NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1008	+	Prostate(51;0.0198)							A0AVP3|Q8N1M8	Splice_Site	SNP	ENST00000334011.5	37		CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301248	0.40694	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OIT3	74343071	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	9.490000	0.97952	2.824000	0.97209	0.655000	0.94253	.		0.502	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	Intron	5	231	0	0	0	1	0	5	231				
RAPGEF1	2889	broad.mit.edu	37	9	134501807	134501807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501807G>A	ENST00000372189.3	-	10	1276	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.H402Y|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.H403Y	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	385					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGATCATAGTGGTCTGCAGTT	0.592																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1204-1206)Cac>Tac		Rap guanine nucleotide exchange factor (GEF) 1							75.0	77.0	76.0					9																	134501807		1949	4146	6095	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501807G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1153C>T	9.37:g.134501807G>A	ENSP00000361263:p.His385Tyr					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.H385Y|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.H403Y|RAPGEF1_ENST00000481260.1_5'UTR	p.H402Y			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1447	-		Myeloproliferative disorder(178;0.204)	385					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1204C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320913	0.60634	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.40225	1.04;1.04;1.04	5.08	5.08	0.68730	.	0.196102	0.52532	D	0.000078	T	0.40398	0.1115	L	0.51422	1.61	0.27018	N	0.964535	P;P;P	0.47106	0.889;0.824;0.89	B;B;B	0.43508	0.242;0.242;0.422	T	0.40384	-0.9566	10	0.41790	T	0.15	.	12.8993	0.58117	0.0:0.0:0.8378:0.1622	.	402;385;403	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	Y	385;402;279;385;403;365;311;80;402	ENSP00000361269:H402Y;ENSP00000361263:H385Y;ENSP00000361264:H403Y	ENSP00000266110:H385Y	H	-	1	0	RAPGEF1	133491628	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.428000	0.59894	2.532000	0.85374	0.650000	0.86243	CAC		0.592	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		6	104	0	0	0	1	0	6	104				
CAND2	23066	broad.mit.edu	37	3	12858002	12858002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:12858002C>T	ENST00000456430.2	+	10	1612	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	CAND2_ENST00000295989.5_Missense_Mutation_p.P431L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	524					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATCCTCCTGCCACCTGTGATG	0.642																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1570-1572)cCa>cTa		cullin-associated and neddylation-dissociated 2 (putative)							49.0	54.0	53.0					3																	12858002		2098	4213	6311	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858002C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1571C>T	3.37:g.12858002C>T	ENSP00000387641:p.Pro524Leu					CAND2_ENST00000295989.5_Missense_Mutation_p.P431L	p.P524L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1612	+			524					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1571C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145378	0.77888	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.67345	-0.26;-0.26	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.064334	0.64402	D	0.000007	D	0.84871	0.5568	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.83275	0.807;0.996	D	0.88052	0.2788	10	0.72032	D	0.01	-17.7421	16.0847	0.81038	0.0:1.0:0.0:0.0	.	524;431	O75155;O75155-2	CAND2_HUMAN;.	L	431;524	ENSP00000295989:P431L;ENSP00000387641:P524L	ENSP00000295989:P431L	P	+	2	0	CAND2	12833002	1.000000	0.71417	0.950000	0.38849	0.894000	0.52154	7.714000	0.84703	2.395000	0.81488	0.561000	0.74099	CCA		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		7	103	0	0	0	1	0	7	103				
RIN3	79890	broad.mit.edu	37	14	93043731	93043731	+	Silent	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:93043731C>T	ENST00000216487.7	+	3	435	c.276C>T	c.(274-276)agC>agT	p.S92S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGACAGCAGCTCGAAGCAGC	0.512																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(274-276)agC>agT		Ras and Rab interactor 3							160.0	162.0	161.0					14																	93043731		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93043731C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.276C>T	14.37:g.93043731C>T						RIN3_ENST00000418924.2_3'UTR	p.S92S	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			3	435	+		all_cancers(154;0.0701)	92			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.276C>T	CCDS32144.1																																																																																				0.512	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			5	187	0	0	0	1	0	5	187				
UBR4	23352	broad.mit.edu	37	1	19510670	19510670	+	Splice_Site	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19510670C>T	ENST00000375254.3	-	16	1966		c.e16-1		UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACCTAAGAACTGAAAGGAAC	0.378																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.e16-1		ubiquitin protein ligase E3 component n-recognin 4							75.0	74.0	74.0					1																	19510670		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19510670C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1939-1G>A	1.37:g.19510670C>T						UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site				Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	16	1942	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)						A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37		CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810681	0.90707	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7272	0.91718	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR4	19383257	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.250000	0.78287	2.773000	0.95371	0.655000	0.94253	.		0.378	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron	6	51	0	0	0	1	0	6	51				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	53	0	0	0	1	0	6	53				
HAS3	3038	broad.mit.edu	37	16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	ENST00000306560.1	+	4	910	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_ENST00000569188.1_Missense_Mutation_p.D252N|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	252					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(754-756)Gac>Aac		hyaluronan synthase 3							158.0	146.0	150.0					16																	69148261		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148261G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.754G>A	16.37:g.69148261G>A	ENSP00000304440:p.Asp252Asn					HAS3_ENST00000569188.1_Missense_Mutation_p.D252N|HAS3_ENST00000219322.3_Intron	p.D252N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	910	+		Ovarian(137;0.101)	252					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.754G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723810	0.89298	.	.	ENSG00000103044	ENST00000306560	T	0.41065	1.01	5.95	5.95	0.96441	.	0.043129	0.85682	D	0.000000	T	0.69913	0.3164	M	0.87456	2.885	0.58432	D	0.999999	D	0.76494	0.999	D	0.66084	0.941	T	0.74144	-0.3760	10	0.87932	D	0	-13.635	19.1646	0.93551	0.0:0.0:1.0:0.0	.	252	O00219	HAS3_HUMAN	N	252	ENSP00000304440:D252N	ENSP00000304440:D252N	D	+	1	0	HAS3	67705762	1.000000	0.71417	0.937000	0.37676	0.990000	0.78478	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	GAC		0.557	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		76	115	0	0	0	1	0	76	115				
MECP2	4204	broad.mit.edu	37	X	153297774	153297774	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	ENST00000303391.6	-	3	510	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	87					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(259-261)atC>atT		methyl CpG binding protein 2 (Rett syndrome)							87.0	85.0	86.0					X																	153297774		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297774G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.261C>T	X.37:g.153297774G>A						MECP2_ENST00000407218.1_Silent_p.I87I|MECP2_ENST00000453960.2_Silent_p.I99I	p.I87I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			3	510	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		87					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.261C>T	CCDS14741.1																																																																																				0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		45	12	0	0	0	1	0	45	12				
KIF6	221458	broad.mit.edu	37	6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	ENST00000287152.7	-	16	1922	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	610					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1828-1830)Atc>Gtc		kinesin family member 6							117.0	110.0	112.0					6																	39353431		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39353431T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1828A>G	6.37:g.39353431T>C	ENSP00000287152:p.Ile610Val					KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V	p.I610V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			16	1922	-			610					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1828A>G	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	t	13.12	2.141515	0.37825	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.73	4.57	0.56435	.	.	.	.	.	T	0.22166	0.0534	L	0.58583	1.82	0.34562	D	0.712449	B;B;B	0.23185	0.052;0.081;0.07	B;B;B	0.25614	0.022;0.046;0.062	T	0.05835	-1.0861	9	0.30078	T	0.28	.	10.7461	0.46181	0.0:0.0:0.1754:0.8246	.	554;610;610	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	V	610;61;610;449;61;554;61;61	ENSP00000287152:I610V;ENSP00000377889:I61V;ENSP00000362312:I610V;ENSP00000362309:I449V;ENSP00000229913:I61V;ENSP00000441435:I554V;ENSP00000439064:I61V	ENSP00000229913:I61V	I	-	1	0	KIF6	39461409	0.995000	0.38212	0.814000	0.32528	0.960000	0.62799	1.045000	0.30341	1.104000	0.41587	0.524000	0.50904	ATC		0.463	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		3	69	0	0	0	1	0	3	69				
HERC2P3	283755	broad.mit.edu	37	15	20657760	20657760	+	RNA	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:20657760C>T	ENST00000428453.1	-	0	2198							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCCCAAGCTCGGTCCCGATG	0.547																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															104.0	93.0	97.0					15																	20657760		2137	4215	6352			0							g.chr15:20657760C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657760C>T														0	2198	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.547	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	31	0	0	0	1	0	3	31				
AEBP1	165	broad.mit.edu	37	7	44153637	44153637	+	Missense_Mutation	SNP	C	C	A	rs149601977		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr7:44153637C>A	ENST00000223357.3	+	21	3559	c.3254C>A	c.(3253-3255)aCc>aAc	p.T1085N	AEBP1_ENST00000450684.2_Missense_Mutation_p.T660N	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1085	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGACTGAGACCTACACAGAG	0.627																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3253-3255)aCc>aAc		AE binding protein 1							103.0	100.0	101.0					7																	44153637		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153637C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3254C>A	7.37:g.44153637C>A	ENSP00000223357:p.Thr1085Asn					AEBP1_ENST00000450684.2_Missense_Mutation_p.T660N	p.T1085N	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3559	+			1085			Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3254C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985547	0.53934	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95949	-3.86;-3.33	5.0	5.0	0.66597	.	40.403700	0.00166	N	0.000000	D	0.95233	0.8454	L	0.27053	0.805	0.27311	N	0.957301	D;D	0.65815	0.994;0.995	P;P	0.57776	0.827;0.795	D	0.86616	0.1876	10	0.48119	T	0.1	-18.4135	7.8135	0.29245	0.0:0.8204:0.0:0.1796	.	660;1085	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	N	1085;660	ENSP00000223357:T1085N;ENSP00000398878:T660N	ENSP00000223357:T1085N	T	+	2	0	AEBP1	44120162	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.322000	0.52007	2.329000	0.79093	0.558000	0.71614	ACC		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		3	46	1	0	1	1	1	3	46				
NELL1	4745	broad.mit.edu	37	11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	ENST00000357134.5	+	9	1147	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R360Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	332	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.R332Q(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1078-1080)cGa>cAa		NEL-like 1 (chicken)							140.0	111.0	121.0					11																	20950023		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20950023G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.995G>A	11.37:g.20950023G>A	ENSP00000349654:p.Arg332Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q	p.R360Q			Q92832	NELL1_HUMAN			10	1232	+			332			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1079G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719105	0.68844	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.059595	0.64402	D	0.000016	T	0.55768	0.1941	L	0.38531	1.155	0.42002	D	0.990897	P;D;B;D	0.69078	0.695;0.997;0.125;0.992	B;P;B;P	0.50825	0.231;0.651;0.018;0.558	T	0.50684	-0.8799	10	0.10111	T	0.7	-10.7311	10.8246	0.46625	0.1147:0.0:0.8853:0.0	.	275;360;332;332	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	360;332;275;332	ENSP00000298925:R360Q;ENSP00000349654:R332Q;ENSP00000317837:R275Q;ENSP00000437170:R332Q	ENSP00000298925:R360Q	R	+	2	0	NELL1	20906599	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.639000	0.61361	2.679000	0.91253	0.561000	0.74099	CGA		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		31	54	0	0	0	1	0	31	54				
ARID1A	8289	broad.mit.edu	37	1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T	rs555633429		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:27087503C>T	ENST00000324856.7	+	5	2448	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R310*|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R693*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	693					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R693*(5)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	5	Substitution - Nonsense(5)	p.R693*(5)	endometrium(4)|large_intestine(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2077-2079)Cga>Tga		AT rich interactive domain 1A (SWI-like)							101.0	99.0	99.0					1																	27087503		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087503C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2077C>T	1.37:g.27087503C>T	ENSP00000320485:p.Arg693*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R310*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R693*	p.R693*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	5	2448	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	693					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2077C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	38	7.181875	0.98118	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.95	5.95	0.96441	.	0.060823	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2658	13.2963	0.60298	0.2598:0.7402:0.0:0.0	.	.	.	.	X	693;693;310	.	ENSP00000320485:R693X	R	+	1	2	ARID1A	26960090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.464000	0.60134	2.824000	0.97209	0.655000	0.94253	CGA		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		8	114	0	0	0	1	0	8	114				
FGF23	8074	broad.mit.edu	37	12	4479524	4479524	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4479524G>A	ENST00000237837.1	-	3	886	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	247					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F247F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627																																						ENST00000237837.1																			1	Substitution - coding silent(1)	p.F247F(1)	prostate(1)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(739-741)ttC>ttT		fibroblast growth factor 23							60.0	67.0	64.0					12																	4479524		2203	4300	6503	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479524G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.741C>T	12.37:g.4479524G>A							p.F247F	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	886	-			247					Q4V758	Silent	SNP	ENST00000237837.1	37	c.741C>T	CCDS8526.1																																																																																				0.627	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			6	121	0	0	0	1	0	6	121				
PNPLA6	10908	broad.mit.edu	37	19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	ENST00000221249.6	+	13	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	408					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1105-1107)Cgc>Tgc		patatin-like phospholipase domain containing 6							50.0	50.0	50.0					19																	7606923		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606923C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1105C>T	19.37:g.7606923C>T	ENSP00000221249:p.Arg369Cys					PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	p.R369C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1536	+			408					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1105C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292163	0.80914	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.05382	3.55;3.45;3.52;3.55	5.63	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	M	0.73962	2.25	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.424;0.424;0.247	D;B;B;B	0.65140	0.932;0.119;0.17;0.082	T	0.00062	-1.2157	10	0.52906	T	0.07	.	12.0561	0.53536	0.1707:0.8293:0.0:0.0	.	408;369;408;369	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	369;369;417;306;369	ENSP00000221249:R369C;ENSP00000443323:R369C;ENSP00000407509:R417C;ENSP00000394348:R369C	ENSP00000221249:R369C	R	+	1	0	PNPLA6	7512923	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	1.766000	0.38491	2.659000	0.90383	0.655000	0.94253	CGC		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		26	41	0	0	0	1	0	26	41				
ATG5	9474	broad.mit.edu	37	6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	ENST00000369076.3	-	5	786	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	155					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303																																						ENST00000369076.3																			0				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(463-465)Atg>Gtg		autophagy related 5							102.0	95.0	97.0					6																	106727551		2203	4300	6503	SO:0001583	missense	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106727551T>C	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.463A>G	6.37:g.106727551T>C	ENSP00000358072:p.Met155Val					ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V|ATG5_ENST00000360666.4_Intron	p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	5	786	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	155					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	c.463A>G	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.710806	0.48517	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.80616	2.505	0.80722	D	1	P;B;P	0.35383	0.498;0.442;0.498	B;B;B	0.40329	0.326;0.219;0.326	T	0.61367	-0.7077	9	0.30078	T	0.28	-21.4583	16.6407	0.85098	0.0:0.0:0.0:1.0	.	155;77;155	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	V	155;155;77	.	ENSP00000343313:M155V	M	-	1	0	ATG5	106834244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.326000	0.78906	0.533000	0.62120	ATG		0.303	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		19	24	0	0	0	1	0	19	24				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>C		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.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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 -> 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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	59	0	0	0	1	0	35	59				
PPP6R2	9701	broad.mit.edu	37	22	50875937	50875937	+	Silent	SNP	C	C	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr22:50875937C>A	ENST00000216061.5	+	17	2056	c.1686C>A	c.(1684-1686)gcC>gcA	p.A562A	PPP6R2_ENST00000359139.3_Silent_p.A535A|PPP6R2_ENST00000395744.3_Silent_p.A535A|PPP6R2_ENST00000395741.3_Silent_p.A536A			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	562						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						cctcccAGGCCTTCTCTGACT	0.557																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1603-1605)gcC>gcA		protein phosphatase 6, regulatory subunit 2							79.0	68.0	72.0					22																	50875937		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50875937C>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1686C>A	22.37:g.50875937C>A						PPP6R2_ENST00000395744.3_Silent_p.A535A|PPP6R2_ENST00000395741.3_Silent_p.A536A|PPP6R2_ENST00000216061.5_Silent_p.A562A	p.A535A	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			15	1999	+			562					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.1605C>A																																																																																					0.557	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		3	33	1	0	0.014758	1	0.0153256	3	33				
SPTBN5	51332	broad.mit.edu	37	15	42147439	42147439	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42147439C>A	ENST00000320955.6	-	55	9633	c.9406G>T	c.(9406-9408)Gac>Tac	p.D3136Y		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3136					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTCCAGGTCCTGCCCGTAG	0.652																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9406-9408)Gac>Tac		spectrin, beta, non-erythrocytic 5							24.0	27.0	26.0					15																	42147439		2041	4165	6206	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147439C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9406G>T	15.37:g.42147439C>A	ENSP00000317790:p.Asp3136Tyr						p.D3136Y	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9633	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3136						Missense_Mutation	SNP	ENST00000320955.6	37	c.9406G>T		.	.	.	.	.	.	.	.	.	.	.	26.3	4.727757	0.89390	.	.	ENSG00000137877	ENST00000320955	T	0.58652	0.32	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.80939	0.4720	M	0.88640	2.97	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.84642	0.0696	10	0.72032	D	0.01	.	18.9028	0.92449	0.0:1.0:0.0:0.0	.	3136	Q9NRC6	SPTN5_HUMAN	Y	3136	ENSP00000317790:D3136Y	ENSP00000317790:D3136Y	D	-	1	0	SPTBN5	39934731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.976000	0.49289	2.447000	0.82792	0.655000	0.94253	GAC		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	52	1	0	1	1	1	3	52				
C3orf58	205428	broad.mit.edu	37	3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	ENST00000315691.3	+	3	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	397					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1189-1191)Gcc>Ccc		chromosome 3 open reading frame 58							91.0	93.0	92.0					3																	143708579		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708579G>C	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1189G>C	3.37:g.143708579G>C	ENSP00000320081:p.Ala397Pro					C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P|C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P	p.A397P	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1724	+			397					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1189G>C	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372507	0.42003	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.33216	1.42	5.91	5.91	0.95273	.	0.052807	0.85682	D	0.000000	T	0.41604	0.1166	L	0.52759	1.655	0.80722	D	1	P;P	0.48503	0.538;0.911	B;P	0.49421	0.178;0.61	T	0.02431	-1.1160	10	0.31617	T	0.26	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	188;397	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	P	397;188;203;159	ENSP00000320081:A397P	ENSP00000320081:A397P	A	+	1	0	C3orf58	145191269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.283000	0.72646	2.793000	0.96121	0.655000	0.94253	GCC		0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		29	55	0	0	0	1	0	29	55				
DAPL1	92196	broad.mit.edu	37	2	159660849	159660849	+	Silent	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	ENST00000309950.3	+	2	170	c.114A>G	c.(112-114)agA>agG	p.R38R	DAPL1_ENST00000409042.1_Silent_p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	38					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378																																						ENST00000309950.3																			0				prostate(1)	1						c.(112-114)agA>agG		death associated protein-like 1							61.0	59.0	60.0					2																	159660849		2203	4300	6503	SO:0001819	synonymous_variant	92196				apoptosis|cell differentiation			g.chr2:159660849A>G		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.114A>G	2.37:g.159660849A>G						DAPL1_ENST00000409042.1_Silent_p.R38R	p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			2	170	+			38					A0PJW9|B9EIK6	Silent	SNP	ENST00000309950.3	37	c.114A>G	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	A	5.397	0.258436	0.10239	.	.	ENSG00000163331	ENST00000343761	.	.	.	5.94	2.27	0.28462	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43845	-0.9366	4	.	.	.	.	7.2931	0.26376	0.7483:0.0:0.2517:0.0	.	.	.	.	A	14	.	.	T	+	1	0	DAPL1	159369095	1.000000	0.71417	0.898000	0.35279	0.420000	0.31355	0.844000	0.27654	0.155000	0.19261	0.528000	0.53228	ACA		0.378	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		8	8	0	0	0	1	0	8	8				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	43	0	0	0	1	0	3	43				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	15	0	0	0	1	0	22	15				
ZNF644	84146	broad.mit.edu	37	1	91405809	91405809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:91405809C>T	ENST00000370440.1	-	3	1319	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D368N			Q9H582	ZN644_HUMAN	zinc finger protein 644	368					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CCACACTTATCTGGGTTATAA	0.368																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1102-1104)Gat>Aat		zinc finger protein 644							116.0	115.0	116.0					1																	91405809		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405809C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1102G>A	1.37:g.91405809C>T	ENSP00000359469:p.Asp368Asn					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D368N	p.D368N			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1319	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	368					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1102G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	8.401	0.841904	0.16963	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00581	6.42;6.42	5.58	4.67	0.58626	.	0.308889	0.35936	N	0.002897	T	0.00210	0.0006	N	0.24115	0.695	0.28111	N	0.931019	B	0.10296	0.003	B	0.06405	0.002	T	0.42224	-0.9464	10	0.25106	T	0.35	-4.9346	10.9172	0.47144	0.0:0.8037:0.0:0.1963	.	368	Q9H582	ZN644_HUMAN	N	368	ENSP00000359469:D368N;ENSP00000337008:D368N	ENSP00000337008:D368N	D	-	1	0	ZNF644	91178397	1.000000	0.71417	0.993000	0.49108	0.813000	0.45954	1.283000	0.33237	1.377000	0.46286	0.655000	0.94253	GAT		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		4	101	0	0	0	1	0	4	101				
LRRC31	79782	broad.mit.edu	37	3	169572755	169572755	+	Silent	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:169572755C>T	ENST00000316428.5	-	6	894	c.837G>A	c.(835-837)agG>agA	p.R279R	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.R279R|LRRC31_ENST00000264676.5_Silent_p.R223R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	279										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACCCAAATACCTAAAAGCAG	0.478																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(835-837)agG>agA		leucine rich repeat containing 31							93.0	85.0	88.0					3																	169572755		1894	4116	6010	SO:0001819	synonymous_variant	79782							g.chr3:169572755C>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.837G>A	3.37:g.169572755C>T						LRRC31_ENST00000523069.1_Silent_p.R279R|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.R223R	p.R279R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		6	894	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		279					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.837G>A	CCDS43167.1																																																																																				0.478	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		3	38	0	0	0	1	0	3	38				
TTN	7273	broad.mit.edu	37	2	179592377	179592377	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:179592377T>C	ENST00000591111.1	-	66	19201	c.18977A>G	c.(18976-18978)cAg>cGg	p.Q6326R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q6643R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5399R|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13102	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGTATACTGTCCAGTCTT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19927-19929)cAg>cGg		titin							201.0	204.0	203.0					2																	179592377		2053	4207	6260	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592377T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18977A>G	2.37:g.179592377T>C	ENSP00000465570:p.Gln6326Arg					TTN_ENST00000591111.1_Missense_Mutation_p.Q6326R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5399R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.Q6643R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20152	-			6326			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19928A>G		.	.	.	.	.	.	.	.	.	.	T	9.315	1.056521	0.19907	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44912	0.1316	N	0.04090	-0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44528	-0.9322	9	0.87932	D	0	.	10.7713	0.46325	0.0:0.0701:0.0:0.9298	.	6326	Q8WZ42	TITIN_HUMAN	R	5399	ENSP00000343764:Q5399R	ENSP00000343764:Q5399R	Q	-	2	0	TTN	179300622	0.995000	0.38212	0.995000	0.50966	0.951000	0.60555	2.467000	0.45093	2.291000	0.77112	0.533000	0.62120	CAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	239	0	0	0	1	0	12	239				
SP140	11262	broad.mit.edu	37	2	231108509	231108509	+	Missense_Mutation	SNP	C	C	T	rs371799738		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:231108509C>T	ENST00000392045.3	+	5	668	c.554C>T	c.(553-555)tCg>tTg	p.S185L	SP140_ENST00000420434.3_Missense_Mutation_p.S185L|SP140_ENST00000343805.6_Missense_Mutation_p.S185L|SP140_ENST00000417495.3_Missense_Mutation_p.S185L|SP140_ENST00000486687.2_Missense_Mutation_p.S185L|SP140_ENST00000350136.5_Missense_Mutation_p.S165L	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	185					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGAGCTCCTCGCCAAGGTGT	0.488																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(553-555)tCg>tTg		SP140 nuclear body protein		C	LEU/SER	0,3990		0,0,1995	97.0	92.0	94.0		554	-2.0	0.0	2		94	1,8333		0,1,4166	no	missense	SP140	NM_007237.4	145	0,1,6161	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	185/868	231108509	1,12323	1995	4167	6162	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231108509C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.554C>T	2.37:g.231108509C>T	ENSP00000375899:p.Ser185Leu					SP140_ENST00000417495.3_Missense_Mutation_p.S185L|SP140_ENST00000343805.6_Missense_Mutation_p.S185L|SP140_ENST00000486687.2_Missense_Mutation_p.S185L|SP140_ENST00000420434.3_Missense_Mutation_p.S185L|SP140_ENST00000350136.5_Missense_Mutation_p.S165L	p.S185L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	5	668	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	185					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.554C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737534	0.03111	0.0	1.2E-4	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58210	0.66;0.92;0.64;0.35;0.75	2.92	-2.04	0.07343	.	.	.	.	.	T	0.24314	0.0589	N	0.14661	0.345	0.09310	N	1	B;B;B;B;D	0.57571	0.147;0.015;0.026;0.071;0.98	B;B;B;B;B	0.35312	0.015;0.002;0.008;0.019;0.2	T	0.20706	-1.0267	9	0.72032	D	0.01	10.0005	3.338	0.07108	0.1813:0.4132:0.0:0.4056	.	185;185;185;185;185	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	L	185;185;165;185;185;185;185	ENSP00000440107:S185L;ENSP00000345846:S165L;ENSP00000375899:S185L;ENSP00000342096:S185L;ENSP00000398210:S185L	ENSP00000342096:S185L	S	+	2	0	SP140	230816753	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.596000	0.05720	-0.545000	0.06224	-0.142000	0.14014	TCG		0.488	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		8	74	0	0	0	1	0	8	74				
CBY1	25776	broad.mit.edu	37	22	39067165	39067165	+	Missense_Mutation	SNP	G	G	A	rs140554782		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr22:39067165G>A	ENST00000216029.3	+	4	409	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	92	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AATCTCTTGCGGCTGAAAGTG	0.562																																						ENST00000216029.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(274-276)cGg>cAg		chibby homolog 1 (Drosophila)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	137.0	132.0	133.0		275,275	4.7	1.0	22	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CBY1	NM_001002880.1,NM_015373.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	92/127,92/127	39067165	1,13005	2203	4300	6503	SO:0001583	missense	25776				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding	g.chr22:39067165G>A	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.275G>A	22.37:g.39067165G>A	ENSP00000216029:p.Arg92Gln					RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	p.R92Q	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN			4	409	+	Melanoma(58;0.04)		92			Minimal region for the interaction with PKD2.		B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	ENST00000216029.3	37	c.275G>A	CCDS13974.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613257	0.66672	0.0	1.16E-4	ENSG00000100211	ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.66	4.65	0.58169	.	0.098253	0.64402	N	0.000005	T	0.41190	0.1148	N	0.17800	0.525	0.43069	D	0.994703	B	0.29188	0.236	B	0.16722	0.016	T	0.30268	-0.9984	9	0.37606	T	0.19	.	14.6069	0.68486	0.0701:0.0:0.9299:0.0	.	92	Q9Y3M2	CBY1_HUMAN	Q	92	.	ENSP00000216029:R92Q	R	+	2	0	CBY1	37397111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.813000	0.62620	1.399000	0.46721	0.557000	0.71058	CGG		0.562	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		7	122	0	0	0	1	0	7	122				
SPTBN5	51332	broad.mit.edu	37	15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	ENST00000320955.6	-	18	3744	c.3517T>C	c.(3517-3519)Tgc>Cgc	p.C1173R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1173					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3517-3519)Tgc>Cgc		spectrin, beta, non-erythrocytic 5							26.0	28.0	27.0					15																	42169508		2002	4166	6168	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42169508A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3517T>C	15.37:g.42169508A>G	ENSP00000317790:p.Cys1173Arg						p.C1173R	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	18	3744	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1173						Missense_Mutation	SNP	ENST00000320955.6	37	c.3517T>C		.	.	.	.	.	.	.	.	.	.	.	0.151	-1.091289	0.01858	.	.	ENSG00000137877	ENST00000320955	T	0.48836	0.8	4.96	-0.447	0.12234	.	1.064060	0.07351	N	0.882451	T	0.26011	0.0634	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21621	-1.0240	10	0.31617	T	0.26	.	8.2611	0.31786	0.4241:0.493:0.0829:0.0	.	1173	Q9NRC6	SPTN5_HUMAN	R	1173	ENSP00000317790:C1173R	ENSP00000317790:C1173R	C	-	1	0	SPTBN5	39956800	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.504000	0.22626	0.273000	0.22049	0.459000	0.35465	TGC		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	10	0	0	0	1	0	7	10				
KMT2D	8085	broad.mit.edu	37	12	49427265	49427265	+	Silent	SNP	T	T	C	rs398123707		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:49427265T>C	ENST00000301067.7	-	39	11222	c.11223A>G	c.(11221-11223)caA>caG	p.Q3741Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3741	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										gctgctgctgttgctgctgct	0.587																																						ENST00000301067.7																			0											c.(11221-11223)caA>caG		lysine (K)-specific methyltransferase 2D							15.0	18.0	17.0					12																	49427265		2197	4294	6491	SO:0001819	synonymous_variant	8085							g.chr12:49427265T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11223A>G	12.37:g.49427265T>C							p.Q3741Q	NM_003482.3	NP_003473.3					39	11222	-								O14687	Silent	SNP	ENST00000301067.7	37	c.11223A>G	CCDS44873.1																																																																																				0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			2	4	0	0	0	1	0	2	4				
ACACB	32	broad.mit.edu	37	12	109647094	109647094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:109647094G>A	ENST00000338432.7	+	21	3304	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	ACACB_ENST00000377848.3_Missense_Mutation_p.R1062H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1062H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1062					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGTCTGTCCGCAGGGTGATG	0.667																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3184-3186)cGc>cAc		acetyl-CoA carboxylase beta	Biotin(DB00121)						42.0	36.0	38.0					12																	109647094		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109647094G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3185G>A	12.37:g.109647094G>A	ENSP00000341044:p.Arg1062His					ACACB_ENST00000377854.5_Missense_Mutation_p.R1062H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1062H	p.R1062H			O00763	ACACB_HUMAN			21	3304	+			1062					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3185G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129546	0.37630	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.47869	0.83;0.83;0.83	5.42	3.5	0.40072	Acetyl-CoA carboxylase, central domain (1);	0.052444	0.85682	N	0.000000	T	0.64983	0.2648	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.65701	-0.6104	10	0.72032	D	0.01	.	10.2653	0.43452	0.0774:0.1333:0.7893:0.0	.	1062	O00763	ACACB_HUMAN	H	1062;1062;1062;293	ENSP00000341044:R1062H;ENSP00000367079:R1062H;ENSP00000367085:R1062H	ENSP00000341044:R1062H	R	+	2	0	ACACB	108131477	1.000000	0.71417	0.993000	0.49108	0.181000	0.23173	5.638000	0.67861	0.582000	0.29556	-0.345000	0.07892	CGC		0.667	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		3	51	0	0	0	1	0	3	51				
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(202-204)Gtc>Atc		family with sequence similarity 124A							26.0	23.0	24.0					13																	51825705		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825705G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.202G>A	13.37:g.51825705G>A	ENSP00000324625:p.Val68Ile					FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	p.V68I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	337	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	68					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.202G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913792	0.72983	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.41758	0.99;0.99	5.79	4.89	0.63831	.	0.149802	0.45126	D	0.000390	T	0.45115	0.1326	L	0.47716	1.5	0.37949	D	0.932572	D;D;P	0.60575	0.988;0.973;0.621	P;B;B	0.50934	0.654;0.437;0.12	T	0.42666	-0.9438	10	0.37606	T	0.19	-21.3215	13.2784	0.60200	0.0:0.3021:0.6979:0.0	.	68;104;68	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	I	68;104	ENSP00000324625:V68I;ENSP00000280057:V104I	ENSP00000280057:V104I	V	+	1	0	FAM124A	50723706	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	3.626000	0.54245	2.735000	0.93741	0.655000	0.94253	GTC		0.682	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		9	15	0	0	0	1	0	9	15				
AKR7L	246181	broad.mit.edu	37	1	19595113	19595113	+	RNA	SNP	T	T	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	ENST00000429712.1	-	0	906				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							84.0	78.0	80.0					1																	19595113		2203	4300	6503			246181							g.chr1:19595113T>G			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595113T>G						AKR7L_ENST00000429712.1_RNA								0	589	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	t	0.008	-1.869757	0.00542	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.03717	3.83	3.73	-0.235	0.13071	NADP-dependent oxidoreductase domain (3);	0.235594	0.45867	N	0.000326	T	0.01387	0.0045	.	.	.	0.20563	N	0.999887	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	9	0.09084	T	0.74	.	0.5611	0.00679	0.166:0.2069:0.2634:0.3637	.	263	Q8NHP1	ARK74_HUMAN	L	85;153;263;228	ENSP00000406430:M85L	ENSP00000373538:M228L	M	-	1	0	AKR7L	19467700	0.993000	0.37304	0.877000	0.34402	0.003000	0.03518	0.120000	0.15647	-0.153000	0.11137	-0.545000	0.04230	ATG		0.632	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		19	51	0	0	0	1	0	19	51				
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3988-3990)tCg>tTg		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							76.0	70.0	72.0					5																	56181765		1823	4067	5890	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181765C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3989C>T	5.37:g.56181765C>T	ENSP00000382423:p.Ser1330Leu						p.S1330L	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	3989	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1330			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.3989C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760742	0.89932	.	.	ENSG00000095015	ENST00000399503	T	0.30981	1.51	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61372	-0.7076	10	0.87932	D	0	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1330	Q13233	M3K1_HUMAN	L	1330	ENSP00000382423:S1330L	ENSP00000382423:S1330L	S	+	2	0	MAP3K1	56217522	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.743000	0.62110	2.591000	0.87537	0.655000	0.94253	TCG		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		22	36	0	0	0	1	0	22	36				
WDR37	22884	broad.mit.edu	37	10	1170957	1170957	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:1170957G>T	ENST00000358220.1	+	13	1490	c.1346G>T	c.(1345-1347)aGc>aTc	p.S449I	WDR37_ENST00000263150.4_Missense_Mutation_p.S449I|WDR37_ENST00000482165.1_3'UTR			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	449										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CCCCGGAGCAGCCGACAGGTA	0.512																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(1345-1347)aGc>aTc		WD repeat domain 37							54.0	48.0	50.0					10																	1170957		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1170957G>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1346G>T	10.37:g.1170957G>T	ENSP00000350954:p.Ser449Ile					WDR37_ENST00000263150.4_Missense_Mutation_p.S449I|WDR37_ENST00000482165.1_3'UTR	p.S449I			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	13	1490	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	449					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.1346G>T	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617462	0.66787	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01335	5.0;5.0	5.41	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.091563	0.64402	D	0.000001	T	0.02156	0.0067	M	0.69823	2.125	0.53688	D	0.999974	B;B	0.21147	0.052;0.052	B;B	0.20184	0.028;0.028	T	0.47959	-0.9076	10	0.51188	T	0.08	.	3.4118	0.07361	0.6049:0.0:0.3951:0.0	.	450;449	A8K976;Q9Y2I8	.;WDR37_HUMAN	I	449	ENSP00000350954:S449I;ENSP00000263150:S449I	ENSP00000263150:S449I	S	+	2	0	WDR37	1160957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.284000	0.78650	1.146000	0.42352	0.591000	0.81541	AGC		0.512	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		9	54	1	0	1.12685e-05	1	1.19314e-05	9	54				
RAPGEF1	2889	broad.mit.edu	37	9	134501730	134501730	+	Silent	SNP	G	G	A	rs186736796		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501730G>A	ENST00000372189.3	-	10	1353	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	RAPGEF1_ENST00000372195.1_Silent_p.N427N|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Silent_p.N428N	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	410					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACGGGCTAAGGTTCCAGGCCG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16746	0.0		0.001	False		,,,				2504	0.0					ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1279-1281)aaC>aaT		Rap guanine nucleotide exchange factor (GEF) 1		G	,	0,3882		0,0,1941	65.0	69.0	68.0		1230,1284	4.2	1.0	9		68	1,8277		0,1,4138	no	coding-synonymous,coding-synonymous	RAPGEF1	NM_005312.2,NM_198679.1	,	0,1,6079	AA,AG,GG		0.0121,0.0,0.0082	,	410/1078,428/1096	134501730	1,12159	1941	4139	6080	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501730G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1230C>T	9.37:g.134501730G>A						RAPGEF1_ENST00000372189.3_Silent_p.N410N|RAPGEF1_ENST00000372190.3_Silent_p.N428N|RAPGEF1_ENST00000481260.1_5'UTR	p.N427N			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1524	-		Myeloproliferative disorder(178;0.204)	410					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.1281C>T	CCDS48047.1																																																																																				0.567	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		6	69	0	0	0	1	0	6	69				
ITIH1	3697	broad.mit.edu	37	3	52819072	52819072	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52819072C>G	ENST00000273283.2	+	12	1444	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	474	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTCTACAGCCAGGTAGCCAA	0.557																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1420-1422)Cag>Gag		inter-alpha-trypsin inhibitor heavy chain 1							82.0	79.0	80.0					3																	52819072		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52819072C>G		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1420C>G	3.37:g.52819072C>G	ENSP00000273283:p.Gln474Glu					ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E	p.Q474E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1444	+			474			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1420C>G	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	5.649	0.304330	0.10678	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;2.05;4.6	4.88	3.97	0.46021	von Willebrand factor, type A (1);	0.051467	0.85682	D	0.000000	T	0.47078	0.1426	N	0.01809	-0.71	0.41388	D	0.987597	B;B;B	0.18968	0.032;0.004;0.015	B;B;B	0.15052	0.012;0.001;0.011	T	0.52983	-0.8502	10	0.02654	T	1	-24.7304	11.9023	0.52690	0.0:0.6342:0.3658:0.0	.	332;75;474	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	E	474;474;332;186;27	ENSP00000442584:Q474E;ENSP00000273283:Q474E;ENSP00000443973:Q332E;ENSP00000443847:Q186E;ENSP00000395836:Q27E	ENSP00000273283:Q474E	Q	+	1	0	ITIH1	52794112	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	3.638000	0.54332	2.557000	0.86248	0.543000	0.68304	CAG		0.557	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	104	0	0	0	1	0	4	104				
ACPP	55	broad.mit.edu	37	3	132051045	132051045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:132051045C>T	ENST00000336375.5	+	4	403	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R105*|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R105*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.R105*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTATATTCGAAGCACAGA	0.458																																						ENST00000336375.5																			1	Substitution - Nonsense(1)	p.R105*(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(313-315)Cga>Tga		acid phosphatase, prostate							144.0	144.0	144.0					3																	132051045		2203	4300	6503	SO:0001587	stop_gained	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132051045C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.313C>T	3.37:g.132051045C>T	ENSP00000337471:p.Arg105*					ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R105*|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R105*	p.R105*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			4	403	+			105					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Nonsense_Mutation	SNP	ENST00000336375.5	37	c.313C>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129490	0.56721	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	.	.	.	6.17	6.17	0.99709	.	0.351400	0.24818	N	0.035352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4841	0.67603	0.147:0.853:0.0:0.0	.	.	.	.	X	105;76;105;105	.	ENSP00000337471:R105X	R	+	1	2	ACPP	133533735	0.979000	0.34478	0.474000	0.27266	0.073000	0.16967	2.813000	0.48002	2.941000	0.99782	0.655000	0.94253	CGA		0.458	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		7	138	0	0	0	1	0	7	138				
ATP6V1D	51382	broad.mit.edu	37	14	67807223	67807223	+	Missense_Mutation	SNP	C	C	T	rs144396308	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:67807223C>T	ENST00000216442.7	-	8	1086	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G157R|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.R80Q|ATP6V1D_ENST00000553974.1_5'Flank|Y_RNA_ENST00000362885.1_RNA|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.R124Q	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	179					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R179Q(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		ACGTTCAATCCGGGGAATGAT	0.328																																						ENST00000216442.7																			1	Substitution - Missense(1)	p.R179Q(1)	upper_aerodigestive_tract(1)	lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7						c.(535-537)cGg>cAg		ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	96.0	97.0		536	5.3	1.0	14	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP6V1D	NM_015994.3	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	179/248	67807223	3,13003	2203	4300	6503	SO:0001583	missense	51382				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr14:67807223C>T	AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.536G>A	14.37:g.67807223C>T	ENSP00000216442:p.Arg179Gln					ATP6V1D_ENST00000555474.1_Missense_Mutation_p.R80Q|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.R124Q|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G157R	p.R179Q	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN		all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)	8	1086	-			179					B2RE33|Q9Y688	Missense_Mutation	SNP	ENST00000216442.7	37	c.536G>A	CCDS9780.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.445641|4.445641	0.84101|0.84101	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000100554|ENSG00000100554	ENST00000554236|ENST00000555474;ENST00000216442;ENST00000555431	.|.	.|.	.|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	.|0.043923	.|0.85682	.|D	.|0.000000	T|T	0.57902|0.57902	0.2085|0.2085	M|M	0.68728|0.68728	2.09|2.09	0.21802|0.21802	N|N	0.999536|0.999536	.|P	.|0.46912	.|0.886	.|P	.|0.52598	.|0.703	T|T	0.56637|0.56637	-0.7946|-0.7946	5|9	.|0.72032	.|D	.|0.01	-17.7948|-17.7948	11.7311|11.7311	0.51737|0.51737	0.0:0.8657:0.0:0.1343|0.0:0.8657:0.0:0.1343	.|.	.|179	.|Q9Y5K8	.|VATD_HUMAN	R|Q	157|80;179;124	.|.	.|ENSP00000216442:R179Q	G|R	-|-	1|2	0|0	ATP6V1D|ATP6V1D	66876976|66876976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.011000|6.011000	0.70760|0.70760	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.328	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		34	54	0	0	0	1	0	34	54				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	37	0	0	0	1	0	3	37				
SLCO1A2	6579	broad.mit.edu	37	12	21422506	21422506	+	Silent	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	ENST00000307378.6	-	16	2709	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_ENST00000452078.1_Silent_p.D663D|SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000458504.1_Silent_p.D531D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	663					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TCAATTCATCATCTTTCAAAA	0.308																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1987-1989)gaT>gaC		solute carrier organic anion transporter family, member 1A2							124.0	132.0	129.0					12																	21422506		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422506A>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1989T>C	12.37:g.21422506A>G						SLCO1A2_ENST00000452078.1_Silent_p.D663D|SLCO1A2_ENST00000458504.1_Silent_p.D531D|SLCO1A2_ENST00000537524.1_Silent_p.D531D	p.D663D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			16	2709	-			663					Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1989T>C	CCDS8686.1																																																																																				0.308	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		37	56	0	0	0	1	0	37	56				
ARGFX	503582	broad.mit.edu	37	3	121303779	121303779	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:121303779A>G	ENST00000334384.3	+	3	246	c.236A>G	c.(235-237)cAt>cGt	p.H79R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CGGAGAAGGCATAAAGAACGT	0.418																																						ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(235-237)cAt>cGt		arginine-fifty homeobox							192.0	178.0	183.0					3																	121303779		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121303779A>G		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.236A>G	3.37:g.121303779A>G	ENSP00000335578:p.His79Arg						p.H79R	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	3	246	+			79						Missense_Mutation	SNP	ENST00000334384.3	37	c.236A>G	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.929574	0.00488	.	.	ENSG00000186103	ENST00000334384	D	0.94457	-3.43	3.09	-2.12	0.07165	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	1.835690	0.03153	N	0.168309	D	0.82453	0.5040	N	0.04355	-0.22	0.09310	N	1	B	0.21905	0.062	B	0.20955	0.032	T	0.79354	-0.1838	10	0.02654	T	1	2.299	3.8877	0.09105	0.4082:0.2115:0.3803:0.0	.	79	A6NJG6	ARGFX_HUMAN	R	79	ENSP00000335578:H79R	ENSP00000335578:H79R	H	+	2	0	ARGFX	122786469	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.576000	0.02129	-0.439000	0.07222	0.454000	0.30748	CAT		0.418	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		4	200	0	0	0	1	0	4	200				
PLEKHG3	26030	broad.mit.edu	37	14	65198857	65198857	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:65198857G>C	ENST00000394691.1	+	10	1317	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.K334N			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	390	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCACATCAAGAGGCTCATCC	0.557																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1000-1002)aaG>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							164.0	126.0	139.0					14																	65198857		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65198857G>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1170G>C	14.37:g.65198857G>C	ENSP00000378183:p.Lys390Asn					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.K390N	p.K334N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	8	1310	+			390			PH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1002G>C		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116466	0.77323	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.77229	-1.08;-1.08	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.175626	0.47455	D	0.000226	D	0.88720	0.6513	M	0.85630	2.765	0.80722	D	1	D;D	0.58970	0.984;0.965	D;P	0.65573	0.936;0.836	D	0.90445	0.4434	10	0.66056	D	0.02	.	17.2246	0.86966	0.0:0.0:1.0:0.0	.	390;334	A1L390;A1L390-3	PKHG3_HUMAN;.	N	334;390	ENSP00000247226:K334N;ENSP00000378183:K390N	ENSP00000247226:K334N	K	+	3	2	PLEKHG3	64268610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.442000	0.44873	2.351000	0.79841	0.555000	0.69702	AAG		0.557	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	77	0	0	0	1	0	7	77				
LRRK1	79705	broad.mit.edu	37	15	101565120	101565120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:101565120C>T	ENST00000388948.3	+	16	2539	c.2180C>T	c.(2179-2181)gCg>gTg	p.A727V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A724V	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACCTGGCGCTGGGGGAG	0.622																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2170-2172)gCg>gTg		leucine-rich repeat kinase 1							122.0	137.0	132.0					15																	101565120		2053	4186	6239	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101565120C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2180C>T	15.37:g.101565120C>T	ENSP00000373600:p.Ala727Val					LRRK1_ENST00000388948.3_Missense_Mutation_p.A727V	p.A724V			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		17	2571	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		727			Roc.			Missense_Mutation	SNP	ENST00000388948.3	37	c.2171C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290734	0.95546	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.58506	0.33;0.33	5.11	5.11	0.69529	ROC GTPase (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	P	0.61132	0.884	T	0.76168	-0.3058	10	0.56958	D	0.05	.	18.5426	0.91035	0.0:1.0:0.0:0.0	.	727	Q38SD2	LRRK1_HUMAN	V	727;724	ENSP00000373600:A727V;ENSP00000284395:A724V	ENSP00000284395:A724V	A	+	2	0	LRRK1	99382643	1.000000	0.71417	0.967000	0.41034	0.824000	0.46624	5.910000	0.69931	2.360000	0.80028	0.650000	0.86243	GCG		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		6	233	0	0	0	1	0	6	233				
PCSK9	255738	broad.mit.edu	37	1	55525160	55525160	+	Splice_Site	DEL	C	C	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:55525160delC	ENST00000302118.5	+	10	1795	c.1505delC	c.(1504-1506)gcc>gc	p.A502fs	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	502	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GACTCTAAGGCCCAAGGGGGC	0.557																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.e10-1		proprotein convertase subtilisin/kexin type 9							17.0	14.0	15.0					1																	55525160		2191	4285	6476	SO:0001630	splice_region_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55525160delC	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1504-1C>-	1.37:g.55525160delC						PCSK9_ENST00000490692.1_Intron|PCSK9_ENST00000543384.1_3'UTR	p.A502_splice	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			10	1795	+			502					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Splice_Site	DEL	ENST00000302118.5	37	c.1503_splice	CCDS603.1																																																																																				0.557	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	Frame_Shift_Del	2	4						2	4	---	---	---	---
PROX1-AS1	100505832	broad.mit.edu	37	1	214090692	214090694	+	RNA	DEL	TCC	TCC	-	rs375970155		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:214090692_214090694delTCC	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000413560.1_RNA					PROX1 antisense RNA 1																		ctccttctgttcctcctcctcct	0.488																																						ENST00000433082.2																			0																																																			0							g.chr1:214090692_214090694delTCC	AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214090701_214090703delTCC						PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000413560.1_RNA								0	195	-									RNA	DEL	ENST00000433082.2	37																																																																																						0.488	PROX1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000089728.2	NR_037850		3	3						3	3	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(454-456)aaafs	p.K152fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	152	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614																																						ENST00000368635.4																			1	Deletion - Frameshift(1)	p.K155fs*12(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(451-456)ccaaaafs		myristoylated alanine-rich protein kinase C substrate																																				SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181209_114181210insA	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.464dupA	6.37:g.114181220_114181220dupA	ENSP00000357624:p.Lys152fs						p.PK151fs	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	834_835	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	151					E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	ENST00000368635.4	37	c.453_454insA	CCDS5101.1																																																																																				0.614	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		3	5						3	5	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	ENST00000243050.1	+	7	1702_1704	c.1388_1390delTCT	c.(1387-1392)atcttc>atc	p.F464del	NR4A1_ENST00000394824.2_In_Frame_Del_p.F464del|NR4A1_ENST00000545748.1_In_Frame_Del_p.F518del|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_In_Frame_Del_p.F477del|NR4A1_ENST00000394825.1_In_Frame_Del_p.F464del|NR4A1_ENST00000360284.3_In_Frame_Del_p.F477del	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	464					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCAAGCTCATCTTCTGCTCAGG	0.611																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1549-1554)atc>a		nuclear receptor subfamily 4, group A, member 1																																				SO:0001651	inframe_deletion	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451162_52451164delTCT	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1388_1390delTCT	12.37:g.52451165_52451167delTCT	ENSP00000243050:p.Phe464del					NR4A1_ENST00000243050.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000394824.2_In_Frame_Del_p.IF463del|NR4A1_ENST00000394825.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000550082.1_In_Frame_Del_p.IF476del|NR4A1_ENST00000360284.3_In_Frame_Del_p.IF476del	p.IF517del			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	2545_2547	+			463					B4DML7|Q15627|Q53Y00|Q6IBU8	In_Frame_Del	DEL	ENST00000243050.1	37	c.1550_1552delTCT	CCDS8818.1																																																																																				0.611	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			38	77						38	77	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	DEL	C	C	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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)	ENST00000420246.2		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"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	GRCh37	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579311delC	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.375+1G>-	17.37:g.7579311delC		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_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	47	60						47	60	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	ENST00000373344.5	-	18	5133	c.4919delA	c.(4918-4920)aagfs	p.K1640fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1640	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.?(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						CTCTTGCCACTTCTCAAATTC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				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, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(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						c.(4918-4920)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						50.0	48.0	48.0					X																	76889091		2203	4296	6499	SO:0001589	frameshift_variant	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:76889091delT	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.4919delA	X.37:g.76889091delT	ENSP00000362441:p.Lys1640fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	p.K1640fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5133	-			1640			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4919delA	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		46	14						46	14	---	---	---	---
