#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
GUCY1A3	2982	broad.mit.edu	37	4	156631929	156631929	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:156631929C>T	ENST00000296518.7	+	6	821	c.612C>T	c.(610-612)taC>taT	p.Y204Y	GUCY1A3_ENST00000513574.1_Silent_p.Y204Y|GUCY1A3_ENST00000511108.1_Silent_p.Y204Y|GUCY1A3_ENST00000511507.1_Silent_p.Y204Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Silent_p.Y204Y|GUCY1A3_ENST00000506455.1_Silent_p.Y204Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	204					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGTTTACTACTTCTTCCCTA	0.473																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(610-612)taC>taT		guanylate cyclase 1, soluble, alpha 3							74.0	78.0	76.0					4																	156631929		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631929C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.612C>T	4.37:g.156631929C>T						GUCY1A3_ENST00000455639.2_Silent_p.Y204Y|GUCY1A3_ENST00000511108.1_Silent_p.Y204Y|GUCY1A3_ENST00000506455.1_Silent_p.Y204Y|GUCY1A3_ENST00000511507.1_Silent_p.Y204Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Silent_p.Y204Y	p.Y204Y			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	821	+	all_hematologic(180;0.24)	Renal(120;0.0854)	204					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.612C>T	CCDS34085.1																																																																																				0.473	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			5	51	0	0	0	1	0	5	51				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	145	0	0	0	1	0	5	145				
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1324-1326)cGc>cAc		suppression of tumorigenicity 5							293.0	286.0	288.0					11																	8751512		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751512C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1325G>A	11.37:g.8751512C>T	ENSP00000433528:p.Arg442His					ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1710	-			442			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1325G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269717	0.40095	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.05855	3.38;3.38;3.38	6.11	5.2	0.72013	.	0.318346	0.37053	N	0.002271	T	0.06096	0.0158	L	0.29908	0.895	0.35051	D	0.760619	B	0.32573	0.376	B	0.23275	0.045	T	0.20107	-1.0285	10	0.66056	D	0.02	-9.1709	15.6375	0.76966	0.0:0.9344:0.0:0.0656	.	442	P78524	ST5_HUMAN	H	442	ENSP00000433528:R442H;ENSP00000319678:R442H;ENSP00000350294:R442H	ENSP00000319678:R442H	R	-	2	0	ST5	8708088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.831000	0.48144	1.598000	0.50083	-0.150000	0.13652	CGC		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		4	245	0	0	0	1	0	4	245				
DNAH5	1767	broad.mit.edu	37	5	13762997	13762997	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:13762997T>C	ENST00000265104.4	-	60	10219	c.10115A>G	c.(10114-10116)gAc>gGc	p.D3372G	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3372	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTGATTGTGTCTTTTGGGAA	0.368									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10114-10116)gAc>gGc		dynein, axonemal, heavy chain 5							60.0	58.0	59.0					5																	13762997		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762997T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10115A>G	5.37:g.13762997T>C	ENSP00000265104:p.Asp3372Gly					DNAH5_ENST00000504001.3_5'UTR	p.D3372G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			60	10219	-	Lung NSC(4;0.00476)		3372			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10115A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.748737	0.89753	.	.	ENSG00000039139	ENST00000265104	T	0.74842	-0.88	5.69	5.69	0.88448	Dynein heavy chain, coiled coil stalk (1);	0.091372	0.64402	D	0.000001	D	0.91520	0.7322	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	15.9508	0.79835	0.0:0.0:0.0:1.0	.	3372	Q8TE73	DYH5_HUMAN	G	3372	ENSP00000265104:D3372G	ENSP00000265104:D3372G	D	-	2	0	DNAH5	13815997	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.914000	0.87478	2.170000	0.68504	0.459000	0.35465	GAC		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	26	0	0	0	1	0	15	26				
MCU	90550	broad.mit.edu	37	10	74631207	74631207	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:74631207G>C	ENST00000373053.3	+	6	751	c.730G>C	c.(730-732)Gcc>Ccc	p.A244P	MCU_ENST00000357157.6_Missense_Mutation_p.A223P|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000536019.1_Missense_Mutation_p.A195P	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	244					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGCCTACATGGCCACACAGTT	0.483																																						ENST00000536019.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(583-585)Gcc>Ccc		mitochondrial calcium uniporter							193.0	180.0	184.0					10																	74631207		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631207G>C	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.730G>C	10.37:g.74631207G>C	ENSP00000362144:p.Ala244Pro					MCU_ENST00000357157.6_Missense_Mutation_p.A223P|MCU_ENST00000373053.3_Missense_Mutation_p.A244P|MCU_ENST00000605416.1_3'UTR	p.A195P	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN			6	1028	+			244					B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.583G>C	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588617	0.96590	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.34275	1.37;1.37;1.37	5.91	5.91	0.95273	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.72982	0.947;0.947;0.979	T	0.61138	-0.7123	10	0.72032	D	0.01	-11.0268	20.3011	0.98612	0.0:0.0:1.0:0.0	.	223;195;244	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	P	244;223;195	ENSP00000362144:A244P;ENSP00000349680:A223P;ENSP00000440913:A195P	ENSP00000349680:A223P	A	+	1	0	MCU	74301213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	GCC		0.483	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		57	50	0	0	0	1	0	57	50				
PCDHA1	56147	broad.mit.edu	37	5	140167778	140167778	+	Missense_Mutation	SNP	C	C	T	rs144781571		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:140167778C>T	ENST00000504120.2	+	1	1903	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACTCGTGTCCTGGA	0.652																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1903-1905)Cgt>Tgt									82.0	86.0	84.0					5																	140167778		2203	4300	6503	SO:0001583	missense	0							g.chr5:140167778C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1903C>T	5.37:g.140167778C>T	ENSP00000420840:p.Arg635Cys					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635C	p.R635C	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1903	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1903C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696938	0.48202	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.54675	0.56;0.56	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.37136	U	0.002238	T	0.80969	0.4726	H	0.96720	3.87	0.46564	D	0.999104	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88288	0.2941	10	0.87932	D	0	.	15.0474	0.71838	0.0:1.0:0.0:0.0	.	635;635	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	635	ENSP00000420840:R635C;ENSP00000367373:R635C	ENSP00000367373:R635C	R	+	1	0	PCDHA1	140147962	0.860000	0.29831	0.342000	0.25602	0.346000	0.29079	1.747000	0.38298	1.572000	0.49736	0.484000	0.47621	CGT		0.652	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		24	32	0	0	0	1	0	24	32				
TREM2	54209	broad.mit.edu	37	6	41129257	41129257	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129257C>T	ENST00000373113.3	-	2	228	c.135G>A	c.(133-135)ggG>ggA	p.G45G	TREM2_ENST00000338469.3_Silent_p.G45G|TREM2_ENST00000373122.4_Silent_p.G45G	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	45	Ig-like V-type.				axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGCGCCTCCCCCAGTGCT	0.652																																						ENST00000373113.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11						c.(133-135)ggG>ggA		triggering receptor expressed on myeloid cells 2							54.0	50.0	51.0					6																	41129257		2203	4300	6503	SO:0001819	synonymous_variant	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41129257C>T	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.135G>A	6.37:g.41129257C>T						TREM2_ENST00000338469.3_Silent_p.G45G|TREM2_ENST00000373122.4_Silent_p.G45G	p.G45G	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN			2	228	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		45			Ig-like V-type.		Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	37	c.135G>A	CCDS4852.1																																																																																				0.652	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		11	27	0	0	0	1	0	11	27				
COL11A1	1301	broad.mit.edu	37	1	103355017	103355017	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr1:103355017C>T	ENST00000370096.3	-	59	4770	c.4458G>A	c.(4456-4458)ggG>ggA	p.G1486G	COL11A1_ENST00000353414.4_Silent_p.G1447G|COL11A1_ENST00000358392.2_Silent_p.G1498G|COL11A1_ENST00000512756.1_Silent_p.G1370G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1486	Collagen-like 7.|Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCCCATCCCCTTTTGCTC	0.438																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4492-4494)ggG>ggA		collagen, type XI, alpha 1							82.0	81.0	81.0					1																	103355017		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355017C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4458G>A	1.37:g.103355017C>T						COL11A1_ENST00000512756.1_Silent_p.G1370G|COL11A1_ENST00000353414.4_Silent_p.G1447G|COL11A1_ENST00000370096.3_Silent_p.G1486G	p.G1498G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4811	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1486			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.4494G>A	CCDS778.1																																																																																				0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		32	44	0	0	0	1	0	32	44				
SIK2	23235	broad.mit.edu	37	11	111591740	111591740	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:111591740C>T	ENST00000304987.3	+	12	2071	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	633					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCTAACCTGGCGCCGGCGGCT	0.532																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1897-1899)gCg>gTg		salt-inducible kinase 2							64.0	69.0	68.0					11																	111591740		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591740C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1898C>T	11.37:g.111591740C>T	ENSP00000305976:p.Ala633Val						p.A633V	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			12	2071	+			633					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1898C>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324675	0.41197	.	.	ENSG00000170145	ENST00000304987	T	0.73363	-0.74	6.17	3.17	0.36434	.	0.384766	0.29522	N	0.011913	T	0.61048	0.2316	L	0.43152	1.355	0.20196	N	0.999923	B	0.09022	0.002	B	0.01281	0.0	T	0.49890	-0.8891	10	0.37606	T	0.19	.	4.9329	0.13926	0.1224:0.625:0.1187:0.1339	.	633	Q9H0K1	SIK2_HUMAN	V	633	ENSP00000305976:A633V	ENSP00000305976:A633V	A	+	2	0	SIK2	111096950	0.018000	0.18449	0.182000	0.23118	0.027000	0.11550	0.904000	0.28491	0.935000	0.37341	0.655000	0.94253	GCG		0.532	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		44	44	0	0	0	1	0	44	44				
PTPN11	5781	broad.mit.edu	37	12	112926872	112926872	+	Missense_Mutation	SNP	C	C	T	rs397507541		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:112926872C>T	ENST00000351677.2	+	13	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	502	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGATGGTGCGGTCTCAGAG	0.458			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM041072	PTPN11	M		c.(1492-1494)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 11							171.0	158.0	163.0					12																	112926872		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926872C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1492C>T	12.37:g.112926872C>T	ENSP00000340944:p.Arg498Trp						p.R498W	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			13	1690	+			502			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1492C>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543773	0.86022	.	.	ENSG00000179295	ENST00000351677	D	0.91631	-2.88	5.13	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.99859	4.855	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.97933	1.0321	10	0.87932	D	0	.	12.8197	0.57685	0.2784:0.7216:0.0:0.0	.	498	Q06124-2	.	W	498	ENSP00000340944:R498W	ENSP00000340944:R498W	R	+	1	2	PTPN11	111411255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.816000	0.48026	2.553000	0.86117	0.650000	0.86243	CGG		0.458	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			64	73	0	0	0	1	0	64	73				
DNM1P34	729809	broad.mit.edu	37	15	75594984	75594984	+	RNA	SNP	C	C	T	rs188775101	byFrequency	TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:75594984C>T	ENST00000567292.1	-	0	322							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCATTCTCCTCGGCCTTGCTG	0.622													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21118	0.0		0.0	False		,,,				2504	0.0					ENST00000567292.1																			0																																																			0							g.chr15:75594984C>T	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75594984C>T														0	322	-									RNA	SNP	ENST00000567292.1	37																																																																																						0.622	DNM1P34-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419799.1	NG_009143		6	14	0	0	0	1	0	6	14				
CDON	50937	broad.mit.edu	37	11	125867117	125867117	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:125867117G>A	ENST00000392693.3	-	12	2474	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	CDON_ENST00000263577.7_Missense_Mutation_p.R783C|CDON_ENST00000531738.1_Missense_Mutation_p.R160C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	783	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTAAACTACGAACTTCCACT	0.403																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2347-2349)Cgt>Tgt		cell adhesion associated, oncogene regulated							87.0	81.0	83.0					11																	125867117		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125867117G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2347C>T	11.37:g.125867117G>A	ENSP00000376458:p.Arg783Cys					CDON_ENST00000531738.1_Missense_Mutation_p.R160C|CDON_ENST00000263577.7_Missense_Mutation_p.R783C	p.R783C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	12	2474	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	783			Fibronectin type-III 2.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2347C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029915	0.75504	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.58358	0.34;0.34;0.34	5.47	5.47	0.80525	Fibronectin, type III (4);	0.000000	0.52532	D	0.000067	T	0.66771	0.2823	M	0.63843	1.955	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.973	T	0.68716	-0.5335	10	0.66056	D	0.02	-23.5234	9.1838	0.37158	0.0739:0.0:0.7798:0.1463	.	783;783;160	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	783;160;783	ENSP00000376458:R783C;ENSP00000432901:R160C;ENSP00000263577:R783C	ENSP00000263577:R783C	R	-	1	0	CDON	125372327	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	2.574000	0.86865	0.563000	0.77884	CGT		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		6	96	0	0	0	1	0	6	96				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	p.R306*	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	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	30	0	0	0	1	0	33	30				
TREM2	54209	broad.mit.edu	37	6	41129082	41129082	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129082C>G	ENST00000373113.3	-	2	403	c.310G>C	c.(310-312)Gat>Cat	p.D104H	TREM2_ENST00000338469.3_Missense_Mutation_p.D104H|TREM2_ENST00000373122.4_Missense_Mutation_p.D104H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	104	Ig-like V-type.				axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCCGCATCATGGGGTTGT	0.607																																						ENST00000373113.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11						c.(310-312)Gat>Cat		triggering receptor expressed on myeloid cells 2							102.0	95.0	97.0					6																	41129082		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41129082C>G	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.310G>C	6.37:g.41129082C>G	ENSP00000362205:p.Asp104His					TREM2_ENST00000338469.3_Missense_Mutation_p.D104H|TREM2_ENST00000373122.4_Missense_Mutation_p.D104H	p.D104H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN			2	403	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		104			Ig-like V-type.		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.310G>C	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157832	0.38119	.	.	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	D;D;D	0.87729	-2.29;-2.29;-2.29	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.94128	0.8117	M	0.90369	3.11	0.45594	D	0.998531	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94910	0.8064	10	0.87932	D	0	-31.7398	16.5756	0.84635	0.0:1.0:0.0:0.0	.	104;104;104	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	H	104	ENSP00000362205:D104H;ENSP00000342651:D104H;ENSP00000362214:D104H	ENSP00000342651:D104H	D	-	1	0	TREM2	41237060	0.935000	0.31712	0.065000	0.19835	0.005000	0.04900	4.054000	0.57434	2.599000	0.87857	0.561000	0.74099	GAT		0.607	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		12	62	0	0	0	1	0	12	62				
NXF5	55998	broad.mit.edu	37	X	101092592	101092592	+	Silent	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:101092592A>G	ENST00000361708.2	-	15	1313	c.954T>C	c.(952-954)tgT>tgC	p.C318C	NXF5_ENST00000473265.2_Silent_p.C318C|NXF5_ENST00000537026.1_Silent_p.C318C			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	318	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CGTTTCGTGGACATTTTGTGT	0.537																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(952-954)tgT>tgC		nuclear RNA export factor 5							169.0	136.0	147.0					X																	101092592		2203	4300	6503	SO:0001819	synonymous_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092592A>G	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.954T>C	X.37:g.101092592A>G						NXF5_ENST00000473265.2_Silent_p.C318C|NXF5_ENST00000361708.2_Silent_p.C318C	p.C318C	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			15	1313	-			318			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	ENST00000361708.2	37	c.954T>C																																																																																					0.537	NXF5-201	KNOWN	basic	protein_coding	protein_coding				36	78	0	0	0	1	0	36	78				
DMXL2	23312	broad.mit.edu	37	15	51750758	51750758	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:51750758G>C	ENST00000251076.5	-	35	8364	c.8077C>G	c.(8077-8079)Ctg>Gtg	p.L2693V	DMXL2_ENST00000449909.3_Missense_Mutation_p.L2057V|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2694V|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2693						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGACAGGCCAGTAGAGAAGTA	0.348																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(8077-8079)Ctg>Gtg		Dmx-like 2							124.0	117.0	120.0					15																	51750758		2196	4292	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750758G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8077C>G	15.37:g.51750758G>C	ENSP00000251076:p.Leu2693Val					RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2694V|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2057V|RP11-707P17.2_ENST00000560727.1_RNA	p.L2693V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	35	8364	-			2693					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.8077C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996640	0.35226	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.30981	1.65;1.64;1.51	6.16	-1.83	0.07833	.	0.066130	0.64402	D	0.000010	T	0.35008	0.0917	L	0.41124	1.26	0.27680	N	0.946476	B;B;B;D	0.59357	0.367;0.274;0.108;0.985	B;B;B;P	0.56474	0.138;0.069;0.025;0.799	T	0.37820	-0.9689	10	0.62326	D	0.03	.	12.591	0.56443	0.5369:0.0:0.4631:0.0	.	2694;2057;2693;2694	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	V	2693;2694;2057;259	ENSP00000251076:L2693V;ENSP00000441858:L2694V;ENSP00000400855:L2057V	ENSP00000251076:L2693V	L	-	1	2	DMXL2	49538050	0.079000	0.21365	0.018000	0.16275	0.911000	0.54048	0.350000	0.20079	-0.286000	0.09076	0.650000	0.86243	CTG		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		15	35	0	0	0	1	0	15	35				
PDHA2	5161	broad.mit.edu	37	4	96761796	96761796	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:96761796C>T	ENST00000295266.4	+	1	558	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGCATCGTCGGTGCACAGG	0.507																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(493-495)gtC>gtT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						68.0	71.0	70.0					4																	96761796		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761796C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.495C>T	4.37:g.96761796C>T							p.V165V	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	558	+		Hepatocellular(203;0.114)	165					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.495C>T	CCDS3644.1																																																																																				0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			35	48	0	0	0	1	0	35	48				
ATG9B	285973	broad.mit.edu	37	7	150718390	150718390	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:150718390A>G	ENST00000377974.2	-	5	923	c.848T>C	c.(847-849)cTc>cCc	p.L283P	ATG9B_ENST00000444312.1_Missense_Mutation_p.S21P|ATG9B_ENST00000605938.1_Missense_Mutation_p.L283P|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.L283P			Q674R7	ATG9B_HUMAN	autophagy related 9B	283					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAGGAGGAGGACCAGCAG	0.627																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(847-849)cTc>cCc		autophagy related 9B							24.0	35.0	31.0					7																	150718390		1932	4120	6052	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150718390A>G	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.848T>C	7.37:g.150718390A>G	ENSP00000475005:p.Leu283Pro					ATG9B_ENST00000605952.1_Missense_Mutation_p.L283P|ATG9B_ENST00000444312.1_Missense_Mutation_p.S21P|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283P|ATG9B_ENST00000494791.1_5'UTR	p.L283P	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	923	-	all_neural(206;0.219)		283					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.848T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.04|12.04	1.818668|1.818668	0.32145|0.32145	.|.	.|.	ENSG00000248602|ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613|ENST00000444312	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.150543|.	0.64402|.	D|.	0.000011|.	T|T	0.64136|0.64136	0.2571|0.2571	.|.	.|.	.|.	.|.	.|.	.|.	P|.	0.52170|.	0.951|.	P|.	0.52710|.	0.707|.	T|T	0.71457|0.71457	-0.4587|-0.4587	7|3	0.44086|.	T|.	0.13|.	-16.1049|-16.1049	13.0516|13.0516	0.58958|0.58958	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	283|.	Q674R7|.	ATG9B_HUMAN|.	P|P	283|21	.|.	ENSP00000444232:L283P|.	L|S	-|-	2|1	0|0	AC010973.1|AC010973.1	150349323|150349323	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.369000|0.369000	0.29798|0.29798	2.201000|2.201000	0.42734|0.42734	1.963000|1.963000	0.57068|0.57068	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.627	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		15	7	0	0	0	1	0	15	7				
TYK2	7297	broad.mit.edu	37	19	10464804	10464804	+	Missense_Mutation	SNP	C	C	T	rs554711523		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:10464804C>T	ENST00000525621.1	-	20	3303	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000524462.1_Missense_Mutation_p.R756H|TYK2_ENST00000264818.6_Missense_Mutation_p.R941H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	941	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCCCGAGCGGTGCTGGGG	0.622																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2821-2823)cGc>cAc		tyrosine kinase 2							121.0	107.0	112.0					19																	10464804		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10464804C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2822G>A	19.37:g.10464804C>T	ENSP00000431885:p.Arg941His					TYK2_ENST00000264818.6_Missense_Mutation_p.R941H|TYK2_ENST00000524462.1_Missense_Mutation_p.R756H	p.R941H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		20	3303	-			941			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2822G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.075	0.569178	0.13560	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.83163	-1.69;-1.69;-1.69	5.61	2.18	0.27775	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.497073	0.16617	N	0.206674	T	0.68622	0.3021	L	0.33668	1.02	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.50882	-0.8775	10	0.22706	T	0.39	-23.3764	4.1167	0.10084	0.3908:0.4249:0.0:0.1843	.	941	P29597	TYK2_HUMAN	H	756;941;941;688	ENSP00000433203:R756H;ENSP00000431885:R941H;ENSP00000264818:R941H	ENSP00000264818:R941H	R	-	2	0	TYK2	10325804	0.000000	0.05858	0.175000	0.22980	0.046000	0.14306	-0.020000	0.12525	0.723000	0.32274	0.655000	0.94253	CGC		0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			48	58	0	0	0	1	0	48	58				
GBF1	8729	broad.mit.edu	37	10	104103892	104103892	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:104103892G>A	ENST00000369983.3	+	4	508	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	83					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTATCACTGGACTGGCACTC	0.468																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(247-249)gGa>gAa		golgi brefeldin A resistant guanine nucleotide exchange factor 1							191.0	153.0	166.0					10																	104103892		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104103892G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.248G>A	10.37:g.104103892G>A	ENSP00000359000:p.Gly83Glu						p.G83E	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	4	508	+		Colorectal(252;0.0236)	83					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.248G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842567	0.91197	.	.	ENSG00000107862	ENST00000369983	T	0.65549	-0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	L	0.56396	1.775	0.80722	D	1	P;P;D;D	0.89917	0.737;0.863;1.0;0.957	B;B;D;P	0.85130	0.178;0.406;0.997;0.591	T	0.65619	-0.6124	10	0.09338	T	0.73	-13.0249	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83;83;83;83	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	E	83	ENSP00000359000:G83E	ENSP00000359000:G83E	G	+	2	0	GBF1	104093882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.714000	0.98744	2.941000	0.99782	0.655000	0.94253	GGA		0.468	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	112	0	0	0	1	0	5	112				
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:24952593G>A	ENST00000406961.1	+	17	3762	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000405141.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3109-3111)gGc>gAc		nuclear receptor coactivator 1							114.0	114.0	114.0					2																	24952593		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952593G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3110G>A	2.37:g.24952593G>A	ENSP00000385216:p.Gly1037Asp					NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D	p.G1037D			Q15788	NCOA1_HUMAN			18	3821	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1037					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.3110G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203685	0.58234	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.172578	0.49916	D	0.000122	T	0.45094	0.1325	L	0.49778	1.585	0.48511	D	0.999663	B;B;B;B	0.34290	0.447;0.319;0.241;0.155	B;B;B;B	0.34180	0.177;0.086;0.177;0.086	T	0.39563	-0.9608	10	0.44086	T	0.13	.	16.0087	0.80380	0.0:0.1346:0.8654:0.0	.	1037;1037;1037;886	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	1037;1037;886;1037;1037;1037;1037	ENSP00000385216:G1037D;ENSP00000385097:G1037D;ENSP00000385195:G886D;ENSP00000444039:G1037D;ENSP00000320940:G1037D;ENSP00000288599:G1037D;ENSP00000379197:G1037D	ENSP00000288599:G1037D	G	+	2	0	NCOA1	24806097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.297000	0.51810	2.775000	0.95449	0.585000	0.79938	GGC		0.542	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	152	0	0	0	1	0	4	152				
DAAM2	23500	broad.mit.edu	37	6	39828703	39828703	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:39828703G>A	ENST00000398904.2	+	3	350		c.e3-1		DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000494405.1_Splice_Site|DAAM2_ENST00000405961.3_Splice_Site|DAAM2_ENST00000538976.1_Splice_Site			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCTTTGCAGGATGAATTGG	0.448																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.e3-1		dishevelled associated activator of morphogenesis 2							89.0	80.0	83.0					6																	39828703		1890	4112	6002	SO:0001630	splice_region_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39828703G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.169-1G>A	6.37:g.39828703G>A						DAAM2_ENST00000398904.2_Splice_Site|DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000405961.3_Splice_Site|DAAM2_ENST00000494405.1_Splice_Site		NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			3	350	+	Ovarian(28;0.0355)|Colorectal(47;0.196)							G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Splice_Site	SNP	ENST00000398904.2	37		CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499590	0.85176	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976;ENST00000405961	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8546	0.88759	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM2	39936681	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.405000	0.97313	2.524000	0.85096	0.491000	0.48974	.		0.448	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		Intron	12	14	0	0	0	1	0	12	14				
PDGFRA	5156	broad.mit.edu	37	4	55136821	55136821	+	Silent	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136821G>C	ENST00000257290.5	+	8	1474	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	381	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATTAAAGCTGATCCGTGCTA	0.333			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1141-1143)ctG>ctC		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						135.0	138.0	137.0					4																	55136821		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136821G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1143G>C	4.37:g.55136821G>C		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.L381L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1474	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		381			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1143G>C	CCDS3495.1																																																																																				0.333	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		93	341	0	0	0	1	0	93	341				
SLC18A2	6571	broad.mit.edu	37	10	119012955	119012955	+	Silent	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:119012955T>C	ENST00000298472.5	+	4	653	c.510T>C	c.(508-510)ttT>ttC	p.F170F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	170					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCATCATGTTTGTCTCAACAA	0.428																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(508-510)ttT>ttC		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						255.0	218.0	230.0					10																	119012955		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119012955T>C	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.510T>C	10.37:g.119012955T>C						SLC18A2_ENST00000497497.1_3'UTR	p.F170F	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	4	653	+		Colorectal(252;0.19)	170					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.510T>C	CCDS7599.1																																																																																				0.428	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		39	81	0	0	0	1	0	39	81				
UTP14A	10813	broad.mit.edu	37	X	129060301	129060301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:129060301G>A	ENST00000394422.3	+	14	2057	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.A625T|UTP14A_ENST00000371042.3_Missense_Mutation_p.A509T|UTP14A_ENST00000371051.5_Missense_Mutation_p.A623T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	677					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAACATCCACGCAGCTGCTCA	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(2029-2031)Gca>Aca		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							69.0	65.0	67.0					X																	129060301		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060301G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2029G>A	X.37:g.129060301G>A	ENSP00000377944:p.Ala677Thr		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.A509T|UTP14A_ENST00000425117.2_Missense_Mutation_p.A625T|UTP14A_ENST00000371051.5_Missense_Mutation_p.A623T	p.A677T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2057	+			677					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.2029G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	7.893	0.732682	0.15507	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	6.08	4.29	0.51040	.	0.452057	0.26963	N	0.021606	T	0.44052	0.1275	M	0.78456	2.415	0.09310	N	1	P;D;P	0.76494	0.699;0.999;0.557	B;D;B	0.66497	0.179;0.944;0.183	T	0.45614	-0.9249	10	0.19147	T	0.46	-0.3168	15.2679	0.73678	0.1324:0.0:0.8676:0.0	.	623;625;677	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	T	625;677;623;509	ENSP00000388669:A625T;ENSP00000377944:A677T;ENSP00000360090:A623T;ENSP00000360081:A509T	ENSP00000360081:A509T	A	+	1	0	UTP14A	128887982	0.251000	0.23961	0.002000	0.10522	0.455000	0.32408	2.420000	0.44679	0.280000	0.22209	-0.905000	0.02835	GCA		0.453	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		4	81	0	0	0	1	0	4	81				
KRT13	3860	broad.mit.edu	37	17	39658985	39658985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:39658985C>T	ENST00000246635.3	-	5	1023	c.977G>A	c.(976-978)cGc>cAc	p.R326H	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H|KRT13_ENST00000336861.3_Missense_Mutation_p.R326H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R326H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGGAGCGTGCGCCTGAGCTC	0.577																																						ENST00000246635.3																			1	Substitution - Missense(1)	p.R326H(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(976-978)cGc>cAc		keratin 13							177.0	159.0	165.0					17																	39658985		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658985C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.977G>A	17.37:g.39658985C>T	ENSP00000246635:p.Arg326His					KRT13_ENST00000336861.3_Missense_Mutation_p.R326H|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H	p.R326H	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			5	1023	-		Breast(137;0.000286)	326			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.977G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827461	0.90955	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.90504	-2.68;-2.68	4.45	4.45	0.53987	Filament (1);	0.000000	0.46758	D	0.000277	D	0.93174	0.7826	M	0.63428	1.95	0.51482	D	0.99992	D;D;D;D	0.63880	0.993;0.987;0.984;0.987	P;P;P;P	0.59171	0.853;0.828;0.736;0.828	D	0.93775	0.7078	10	0.66056	D	0.02	.	15.7991	0.78436	0.0:1.0:0.0:0.0	.	314;326;326;326	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	H	326;326;314	ENSP00000246635:R326H;ENSP00000336604:R326H	ENSP00000157775:R314H	R	-	2	0	KRT13	36912511	0.998000	0.40836	0.969000	0.41365	0.991000	0.79684	3.864000	0.56024	2.460000	0.83146	0.478000	0.44815	CGC		0.577	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		80	97	0	0	0	1	0	80	97				
FCGBP	8857	broad.mit.edu	37	19	40354340	40354340	+	Missense_Mutation	SNP	C	C	T	rs556429522		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:40354340C>T	ENST00000221347.6	-	35	16136	c.16129G>A	c.(16129-16131)Ggg>Agg	p.G5377R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5377	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGGTCCCCGTCAAAGTTT	0.557																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(16129-16131)Ggg>Agg		Fc fragment of IgG binding protein							90.0	77.0	81.0					19																	40354340		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354340C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16129G>A	19.37:g.40354340C>T	ENSP00000221347:p.Gly5377Arg						p.G5377R	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16136	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5377			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16129G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584438	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.63913	-0.07	5.88	2.58	0.30949	von Willebrand factor, type D domain (3);	0.239780	0.26715	N	0.022870	T	0.68044	0.2958	M	0.70595	2.14	0.09310	N	1	D	0.64830	0.994	P	0.55222	0.771	T	0.59209	-0.7497	10	0.48119	T	0.1	.	8.1786	0.31296	0.0:0.6868:0.0:0.3132	.	5377	Q9Y6R7	FCGBP_HUMAN	R	5377	ENSP00000221347:G5377R	ENSP00000221347:G5377R	G	-	1	0	FCGBP	45046180	0.001000	0.12720	0.006000	0.13384	0.730000	0.41778	0.520000	0.22878	0.395000	0.25257	0.591000	0.81541	GGG		0.557	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	17	0	0	0	1	0	12	17				
CYP11A1	1583	broad.mit.edu	37	15	74632093	74632093	+	Splice_Site	SNP	G	G	A	rs139449608		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:74632093G>A	ENST00000268053.6	-	6	1146	c.992C>T	c.(991-993)aCg>aTg	p.T331M	CYP11A1_ENST00000419019.2_Splice_Site_p.T173M|CYP11A1_ENST00000358632.4_Splice_Site_p.T173M|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	331					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGTCATGGACGTCTGGTGGGG	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e6-1		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	G	MET/THR,MET/THR	0,4394		0,0,2197	74.0	66.0	69.0		992,518	4.5	0.9	15	dbSNP_134	69	1,8591	1.2+/-3.3	0,1,4295	no	missense-near-splice,missense-near-splice	CYP11A1	NM_000781.2,NM_001099773.1	81,81	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	331/522,173/364	74632093	1,12985	2197	4296	6493	SO:0001630	splice_region_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74632093G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.991-1C>T	15.37:g.74632093G>A						CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Splice_Site_p.T173_splice|CYP11A1_ENST00000268053.6_Splice_Site_p.T331_splice	p.T173_splice	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			6	1213	-			331					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Splice_Site	SNP	ENST00000268053.6	37	c.516_splice	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160298	0.57368	0.0	1.16E-4	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.78364	-1.17;-1.17;-1.17	4.46	4.46	0.54185	.	0.049025	0.85682	D	0.000000	D	0.89417	0.6709	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91635	0.5322	10	0.87932	D	0	-15.6922	16.8757	0.86051	0.0:0.0:1.0:0.0	.	331	P05108	CP11A_HUMAN	M	331;173;173;96	ENSP00000268053:T331M;ENSP00000351455:T173M;ENSP00000405488:T173M	ENSP00000268053:T331M	T	-	2	0	CYP11A1	72419146	1.000000	0.71417	0.949000	0.38748	0.399000	0.30720	6.893000	0.75649	2.291000	0.77112	0.549000	0.68633	ACG		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		Missense_Mutation	5	35	0	0	0	1	0	5	35				
ENPP5	59084	broad.mit.edu	37	6	46135856	46135856	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:46135856C>T	ENST00000371383.2	-	3	404	c.144G>A	c.(142-144)acG>acA	p.T48T	ENPP5_ENST00000230565.3_Silent_p.T48T|ENPP5_ENST00000492313.1_5'Flank					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GAAAATGGGGCGTTGGAACTT	0.353																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(142-144)acG>acA		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							40.0	42.0	41.0					6																	46135856		2203	4300	6503	SO:0001819	synonymous_variant	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135856C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.144G>A	6.37:g.46135856C>T						ENPP5_ENST00000230565.3_Silent_p.T48T	p.T48T			Q9UJA9	ENPP5_HUMAN			3	404	-			48						Silent	SNP	ENST00000371383.2	37	c.144G>A	CCDS4915.1																																																																																				0.353	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			16	22	0	0	0	1	0	16	22				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	50	0	0	0	1	0	27	50				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_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		7	15	0	0	0	1	0	7	15				
CHD3	1107	broad.mit.edu	37	17	7814264	7814264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7814264C>T	ENST00000330494.7	+	39	6004	c.5854C>T	c.(5854-5856)Cag>Tag	p.Q1952*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.Q1918*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.Q2011*|AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1952	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATTACAGCCAGATGCCTGC	0.642																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(6031-6033)Cag>Tag		chromodomain helicase DNA binding protein 3							68.0	68.0	68.0					17																	7814264		2201	4300	6501	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7814264C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5854C>T	17.37:g.7814264C>T	ENSP00000332628:p.Gln1952*					CHD3_ENST00000330494.7_Nonsense_Mutation_p.Q1952*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Q1918*	p.Q2011*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			39	6032	+		Prostate(122;0.202)	1952					D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.6031C>T	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	45|45	11.357148|11.357148	0.99551|0.99551	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000439235;ENST00000449744|ENST00000380358;ENST00000358181;ENST00000330494	.|.	.|.	.|.	5.27|5.27	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.43747	.|D	.|0.000527	T|.	0.72301|.	0.3443|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74106|.	-0.3772|.	5|.	0.72032|0.46703	D|T	0.01|0.11	-25.8299|-25.8299	15.3791|15.3791	0.74637|0.74637	0.1405:0.8595:0.0:0.0|0.1405:0.8595:0.0:0.0	.|.	.|.	.|.	.|.	L|X	295;189|2011;1918;1952	.|.	ENSP00000395252:P295L|ENSP00000332628:Q1952X	P|Q	+|+	2|1	0|0	CHD3|CHD3	7754989|7754989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.241000|7.241000	0.78201|0.78201	1.437000|1.437000	0.47472|0.47472	-0.247000|-0.247000	0.11927|0.11927	CCA|CAG		0.642	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		22	29	0	0	0	1	0	22	29				
OR8B2	26595	broad.mit.edu	37	11	124252770	124252770	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:124252770G>A	ENST00000375013.2	-	1	488	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGTGGGCCGTGGCTCCAGC	0.502																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(469-471)aCg>aTg		olfactory receptor, family 8, subfamily B, member 2							18.0	19.0	19.0					11																	124252770		2197	4277	6474	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252770G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.470C>T	11.37:g.124252770G>A	ENSP00000364152:p.Thr157Met						p.T157M	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	488	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	157					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.470C>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	5.957	0.360604	0.11296	.	.	ENSG00000204293	ENST00000375013	T	0.00076	8.76	3.98	-5.78	0.02362	GPCR, rhodopsin-like superfamily (1);	0.893313	0.09647	N	0.774116	T	0.00109	0.0003	N	0.04132	-0.27	0.09310	N	1	D	0.58620	0.983	P	0.59643	0.861	T	0.50206	-0.8855	10	0.02654	T	1	.	6.7941	0.23715	0.5201:0.2247:0.2552:0.0	.	157	Q96RD0	OR8B2_HUMAN	M	157	ENSP00000364152:T157M	ENSP00000364152:T157M	T	-	2	0	OR8B2	123757980	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-1.095000	0.03356	-1.101000	0.03027	-0.723000	0.03601	ACG		0.502	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		9	10	0	0	0	1	0	9	10				
EFNB1	1947	broad.mit.edu	37	X	68060348	68060348	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:68060348G>A	ENST00000204961.4	+	5	1672	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	298					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGCACCGAGCCCAGCGA	0.627																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(892-894)Gag>Aag		ephrin-B1							49.0	34.0	39.0					X																	68060348		2203	4299	6502	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060348G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.892G>A	X.37:g.68060348G>A	ENSP00000204961:p.Glu298Lys						p.E298K	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1672	+			298					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.892G>A	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517675	0.85495	.	.	ENSG00000090776	ENST00000204961	D	0.94184	-3.37	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.96473	0.8849	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96962	0.9702	10	0.87932	D	0	-36.5402	14.6602	0.68865	0.0:0.0:1.0:0.0	.	298	P98172	EFNB1_HUMAN	K	298	ENSP00000204961:E298K	ENSP00000204961:E298K	E	+	1	0	EFNB1	67977073	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	7.793000	0.85851	2.339000	0.79563	0.523000	0.50628	GAG		0.627	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		3	19	0	0	0	1	0	3	19				
MYL1	4632	broad.mit.edu	37	2	211158461	211158461	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:211158461C>T	ENST00000352451.3	-	5	689	c.542G>A	c.(541-543)tGc>tAc	p.C181Y	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.C137Y	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	181	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTAGTTGATGCAGCCATTGGA	0.443																																						ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(541-543)tGc>tAc		myosin, light chain 1, alkali; skeletal, fast							229.0	209.0	216.0					2																	211158461		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211158461C>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.542G>A	2.37:g.211158461C>T	ENSP00000307280:p.Cys181Tyr					MYL1_ENST00000341685.4_Missense_Mutation_p.C137Y|MYL1_ENST00000496436.1_5'UTR	p.C181Y	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	5	689	-			181			EF-hand 3.		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.542G>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630427	0.67015	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.78924	-1.22;-1.22	5.91	5.91	0.95273	EF-hand-like domain (1);	0.166398	0.64402	D	0.000003	D	0.85478	0.5706	M	0.73319	2.225	0.50813	D	0.999897	D;P	0.58620	0.983;0.946	P;P	0.59595	0.86;0.855	T	0.80311	-0.1436	10	0.15952	T	0.53	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	181;137	P05976;P05976-2	MYL1_HUMAN;.	Y	137;181	ENSP00000343321:C137Y;ENSP00000307280:C181Y	ENSP00000343321:C137Y	C	-	2	0	MYL1	210866706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.794000	0.55492	2.802000	0.96397	0.655000	0.94253	TGC		0.443	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		4	237	0	0	0	1	0	4	237				
EEPD1	80820	broad.mit.edu	37	7	36194133	36194133	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:36194133A>G	ENST00000242108.4	+	2	918	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	EEPD1_ENST00000534978.1_Missense_Mutation_p.Y67C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	67	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATCGTGGAGTACCGAGAGTAT	0.582																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(199-201)tAc>tGc		endonuclease/exonuclease/phosphatase family domain containing 1							108.0	107.0	107.0					7																	36194133		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194133A>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.200A>G	7.37:g.36194133A>G	ENSP00000242108:p.Tyr67Cys					EEPD1_ENST00000534978.1_Missense_Mutation_p.Y67C	p.Y67C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	918	+			67			HhH.		Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.200A>G	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142162	0.77775	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.28895	1.59;1.59	5.68	5.68	0.88126	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62661	-0.6807	10	0.72032	D	0.01	-30.4234	15.938	0.79729	1.0:0.0:0.0:0.0	.	67	Q7L9B9	EEPD1_HUMAN	C	67	ENSP00000242108:Y67C;ENSP00000442692:Y67C	ENSP00000242108:Y67C	Y	+	2	0	EEPD1	36160658	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.846000	0.92159	2.167000	0.68274	0.459000	0.35465	TAC		0.582	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		46	56	0	0	0	1	0	46	56				
NLRP5	126206	broad.mit.edu	37	19	56539151	56539151	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:56539151C>T	ENST00000390649.3	+	7	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	518	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGGTCCGGCGCTGTCTCAA	0.592																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1552-1554)Cgc>Tgc		NLR family, pyrin domain containing 5							45.0	46.0	45.0					19																	56539151		2120	4228	6348	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539151C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1552C>T	19.37:g.56539151C>T	ENSP00000375063:p.Arg518Cys						p.R518C	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1552	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	518			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1552C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	8.142	0.785393	0.16189	.	.	ENSG00000171487	ENST00000390649	T	0.73575	-0.76	2.76	-2.36	0.06663	.	1.106060	0.07058	N	0.833162	T	0.54208	0.1844	N	0.22421	0.69	0.09310	N	1	B	0.22414	0.069	B	0.11329	0.006	T	0.36986	-0.9725	10	0.45353	T	0.12	.	2.712	0.05177	0.3893:0.3769:0.0:0.2338	.	518	P59047	NALP5_HUMAN	C	518	ENSP00000375063:R518C	ENSP00000375063:R518C	R	+	1	0	NLRP5	61230963	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.413000	0.01038	-0.396000	0.07703	0.555000	0.69702	CGC		0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		16	14	0	0	0	1	0	16	14				
MARK3	4140	broad.mit.edu	37	14	103915254	103915254	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr14:103915254A>T	ENST00000429436.2	+	4	807		c.e4-1		MARK3_ENST00000561071.1_Splice_Site|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3							plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTTTTTTTTTAGCTCTTCAGA	0.259																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.e4-1		MAP/microtubule affinity-regulating kinase 3							80.0	80.0	80.0					14																	103915254		1787	4037	5824	SO:0001630	splice_region_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103915254A>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.298-1A>T	14.37:g.103915254A>T						MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000561071.1_Splice_Site|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000335102.5_Splice_Site		NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		4	807	+		Melanoma(154;0.155)						O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Splice_Site	SNP	ENST00000429436.2	37		CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.528668	0.44969	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5204	0.67847	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK3	102985007	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	8.515000	0.90548	2.129000	0.65627	0.533000	0.62120	.		0.259	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	Intron	5	85	0	0	0	1	0	5	85				
ARMC3	219681	broad.mit.edu	37	10	23326313	23326313	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:23326313C>T	ENST00000298032.5	+	19	2608	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	ARMC3_ENST00000376528.4_Missense_Mutation_p.P579S|ARMC3_ENST00000409983.3_Missense_Mutation_p.P835S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	842						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGGGCCTCCCCGCTCCTGA	0.502																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2524-2526)Ccc>Tcc		armadillo repeat containing 3							109.0	100.0	103.0					10																	23326313		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23326313C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2524C>T	10.37:g.23326313C>T	ENSP00000298032:p.Pro842Ser					ARMC3_ENST00000376528.4_Missense_Mutation_p.P579S|ARMC3_ENST00000409983.3_Missense_Mutation_p.P835S	p.P842S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			19	2608	+			842					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2524C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	0.919	-0.716621	0.03206	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.39056	1.1;1.11;2.35	5.68	2.71	0.32032	.	0.387835	0.26176	N	0.025881	T	0.32436	0.0829	L	0.45137	1.4	0.09310	N	1	B;B	0.15930	0.012;0.015	B;B	0.17433	0.015;0.018	T	0.19976	-1.0289	10	0.23302	T	0.38	-24.1197	10.4584	0.44563	0.0:0.779:0.0:0.221	.	835;842	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	842;835;579	ENSP00000298032:P842S;ENSP00000386943:P835S;ENSP00000365711:P579S	ENSP00000298032:P842S	P	+	1	0	ARMC3	23366319	0.024000	0.19004	0.000000	0.03702	0.003000	0.03518	1.695000	0.37763	0.285000	0.22329	-0.345000	0.07892	CCC		0.502	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		21	70	0	0	0	1	0	21	70				
UGT2B4	7363	broad.mit.edu	37	4	70359499	70359499	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:70359499T>A	ENST00000305107.6	-	2	828	c.782A>T	c.(781-783)tAc>tTc	p.Y261F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y125F|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y261F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	261					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAAATCCCAGTAGTTTCGAAT	0.423																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(781-783)tAc>tTc		UDP glucuronosyltransferase 2 family, polypeptide B4							114.0	121.0	118.0					4																	70359499		2192	4297	6489	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70359499T>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.782A>T	4.37:g.70359499T>A	ENSP00000305221:p.Tyr261Phe					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y261F|UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y125F	p.Y261F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			2	828	-			261					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.782A>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071571	0.08436	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.61627	0.09;0.09;3.59	1.95	0.722	0.18225	.	0.000000	0.64402	U	0.000003	T	0.57917	0.2086	M	0.85710	2.77	0.22754	N	0.998774	B;B;B	0.19445	0.001;0.036;0.001	B;B;B	0.29663	0.035;0.105;0.012	T	0.56667	-0.7941	10	0.56958	D	0.05	.	6.4561	0.21930	0.0:0.0:0.2499:0.7501	.	125;261;261	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	F	261;261;125	ENSP00000421290:Y261F;ENSP00000305221:Y261F;ENSP00000370486:Y125F	ENSP00000305221:Y261F	Y	-	2	0	UGT2B4	70394088	0.997000	0.39634	0.216000	0.23742	0.031000	0.12232	3.416000	0.52707	0.209000	0.20645	-0.902000	0.02854	TAC		0.423	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		58	72	0	0	0	1	0	58	72				
REM1	28954	broad.mit.edu	37	20	30064294	30064294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:30064294C>T	ENST00000201979.2	+	2	339	c.46C>T	c.(46-48)Cga>Tga	p.R16*	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	16					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.R16R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGCACCGGCGAGCCAGCAC	0.617																																						ENST00000201979.2																			1	Substitution - coding silent(1)	p.R16R(1)	lung(1)	kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(46-48)Cga>Tga		RAS (RAD and GEM)-like GTP-binding 1							86.0	100.0	95.0					20																	30064294		2203	4300	6503	SO:0001587	stop_gained	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064294C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.46C>T	20.37:g.30064294C>T	ENSP00000201979:p.Arg16*					DEFB124_ENST00000481595.1_Intron	p.R16*	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	339	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		16					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Nonsense_Mutation	SNP	ENST00000201979.2	37	c.46C>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	37	6.533641	0.97641	.	.	ENSG00000088320	ENST00000201979	.	.	.	4.55	1.35	0.21983	.	0.000000	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4644	0.50230	0.4455:0.5545:0.0:0.0	.	.	.	.	X	16	.	ENSP00000201979:R16X	R	+	1	2	REM1	29527955	0.018000	0.18449	0.247000	0.24249	0.891000	0.51852	0.217000	0.17603	0.116000	0.18110	-0.182000	0.12963	CGA		0.617	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		20	25	0	0	0	1	0	20	25				
TPH2	121278	broad.mit.edu	37	12	72366364	72366364	+	Missense_Mutation	SNP	G	G	A	rs139896303		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:72366364G>A	ENST00000333850.3	+	6	815	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	225					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTTGTATTCCGGGAGCTCTCC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.001		0.0	False		,,,				2504	0.0					ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(673-675)cGg>cAg		tryptophan hydroxylase 2	L-Tryptophan(DB00150)	G	GLN/ARG	0,4406		0,0,2203	259.0	270.0	266.0		674	5.5	1.0	12	dbSNP_134	266	1,8599	1.2+/-3.3	0,1,4299	no	missense	TPH2	NM_173353.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	225/491	72366364	1,13005	2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72366364G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.674G>A	12.37:g.72366364G>A	ENSP00000329093:p.Arg225Gln						p.R225Q	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			6	815	+			225					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.674G>A	CCDS31859.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.80	3.893920	0.72639	0.0	1.16E-4	ENSG00000139287	ENST00000333850	D	0.99523	-6.08	5.48	5.48	0.80851	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	L	0.52905	1.665	0.80722	D	1	B	0.26876	0.162	B	0.23852	0.049	D	0.97064	0.9773	10	0.51188	T	0.08	-16.6852	12.6686	0.56855	0.0756:0.0:0.9244:0.0	.	225	Q8IWU9	TPH2_HUMAN	Q	225	ENSP00000329093:R225Q	ENSP00000329093:R225Q	R	+	2	0	TPH2	70652631	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.794000	0.75135	2.566000	0.86566	0.462000	0.41574	CGG		0.453	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		103	205	0	0	0	1	0	103	205				
TBC1D9	23158	broad.mit.edu	37	4	141545331	141545331	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:141545331A>G	ENST00000442267.2	-	20	3091	c.3017T>C	c.(3016-3018)cTg>cCg	p.L1006P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1006							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGTCCACAGTCTCAAATA	0.358																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3016-3018)cTg>cCg		TBC1 domain family, member 9 (with GRAM domain)							152.0	131.0	137.0					4																	141545331		1817	4074	5891	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141545331A>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3017T>C	4.37:g.141545331A>G	ENSP00000411197:p.Leu1006Pro						p.L1006P	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			20	3091	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1006					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3017T>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826817	0.50739	.	.	ENSG00000109436	ENST00000442267	T	0.08896	3.04	5.75	5.75	0.90469	.	0.360121	0.28883	N	0.013827	T	0.09202	0.0227	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	-2.4172	16.0358	0.80628	1.0:0.0:0.0:0.0	.	1006	Q6ZT07	TBCD9_HUMAN	P	1006	ENSP00000411197:L1006P	ENSP00000411197:L1006P	L	-	2	0	TBC1D9	141764781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.974000	0.76122	2.191000	0.70037	0.477000	0.44152	CTG		0.358	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		3	26	0	0	0	1	0	3	26				
SUPT20H	55578	broad.mit.edu	37	13	37618313	37618313	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr13:37618313C>T	ENST00000350612.6	-	7	518	c.298G>A	c.(298-300)Gag>Aag	p.E100K	SUPT20H_ENST00000475892.1_Missense_Mutation_p.E100K|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E88K|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E101K|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000360252.4_Missense_Mutation_p.E101K|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E101K	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	100					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CGAATGGTCTCGGAATCTTAA	0.333																																						ENST00000360252.4																			0											c.(301-303)Gag>Aag		suppressor of Ty 20 homolog (S. cerevisiae)							71.0	73.0	72.0					13																	37618313		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37618313C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.298G>A	13.37:g.37618313C>T	ENSP00000218894:p.Glu100Lys					SUPT20H_ENST00000475892.1_Missense_Mutation_p.E100K|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E101K|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E101K|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E100K|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E88K	p.E101K	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					7	548	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.301G>A	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695350	0.96793	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.71237	-0.4652	10	0.87932	D	0	-16.6225	20.5211	0.99222	0.0:1.0:0.0:0.0	.	88;100;100;101;101;100	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	K	101;100;100;101;100;101;88;101	ENSP00000353388:E101K;ENSP00000417510:E100K;ENSP00000218894:E100K;ENSP00000348512:E101K;ENSP00000419754:E101K;ENSP00000439000:E88K;ENSP00000420170:E101K	ENSP00000218894:E100K	E	-	1	0	FAM48A	36516313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.433000	0.80362	2.861000	0.98227	0.650000	0.86243	GAG		0.333	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		21	40	0	0	0	1	0	21	40				
PDGFRA	5156	broad.mit.edu	37	4	55136846	55136846	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136846G>A	ENST00000257290.5	+	8	1499	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGAAGACAGTGGCCATTATAC	0.348			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1168-1170)Ggc>Agc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						152.0	156.0	154.0					4																	55136846		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136846G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1168G>A	4.37:g.55136846G>A	ENSP00000257290:p.Gly390Ser	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.G390S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1499	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		390			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1168G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.779466	0.90195	.	.	ENSG00000134853	ENST00000257290	T	0.80994	-1.44	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.32533	U	0.005976	D	0.91496	0.7315	M	0.90082	3.085	0.80722	D	1	P;D	0.58970	0.939;0.984	P;D	0.63381	0.904;0.914	D	0.92407	0.5934	10	0.87932	D	0	.	20.1407	0.98058	0.0:0.0:1.0:0.0	.	390;390	P16234-3;P16234	.;PGFRA_HUMAN	S	390	ENSP00000257290:G390S	ENSP00000257290:G390S	G	+	1	0	PDGFRA	54831603	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	8.548000	0.90669	2.763000	0.94921	0.651000	0.88453	GGC		0.348	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		93	355	0	0	0	1	0	93	355				
ATRX	546	broad.mit.edu	37	X	76909647	76909647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:76909647T>A	ENST00000373344.5	-	14	4472	c.4258A>T	c.(4258-4260)Aaa>Taa	p.K1420*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1382*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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						TTTTTCTGTTTATAGCTCCGC	0.323			"""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.(4258-4260)Aaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						226.0	189.0	202.0					X																	76909647		2203	4294	6497	SO:0001587	stop_gained	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:76909647T>A	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.4258A>T	X.37:g.76909647T>A	ENSP00000362441:p.Lys1420*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1382*	p.K1420*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4472	-			1420					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4258A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	t	46	12.635249	0.99684	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7236	14.3483	0.66682	0.0:0.0:0.0:1.0	.	.	.	.	X	1420;1382	.	ENSP00000362441:K1420X	K	-	1	0	ATRX	76796303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.535000	0.60629	1.915000	0.55452	0.409000	0.27619	AAA		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		72	71	0	0	0	1	0	72	71				
PDGFRA	5156	broad.mit.edu	37	4	55136837	55136837	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136837G>A	ENST00000257290.5	+	8	1490	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	387	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGCTAAGGAAGAAGACAGTGG	0.338			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1159-1161)Gaa>Aaa		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						146.0	150.0	148.0					4																	55136837		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136837G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1159G>A	4.37:g.55136837G>A	ENSP00000257290:p.Glu387Lys	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.E387K	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1490	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		387			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1159G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.915586	0.92178	.	.	ENSG00000134853	ENST00000257290	T	0.68479	-0.33	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.32687	U	0.005764	T	0.80944	0.4721	M	0.75777	2.31	0.80722	D	1	P;D	0.55800	0.837;0.973	P;P	0.62382	0.642;0.901	T	0.77555	-0.2544	10	0.33940	T	0.23	.	20.1407	0.98058	0.0:0.0:1.0:0.0	.	387;387	P16234-3;P16234	.;PGFRA_HUMAN	K	387	ENSP00000257290:E387K	ENSP00000257290:E387K	E	+	1	0	PDGFRA	54831594	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.738000	0.74822	2.763000	0.94921	0.651000	0.88453	GAA		0.338	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		93	357	0	0	0	1	0	93	357				
SHMT1	6470	broad.mit.edu	37	17	18233958	18233958	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:18233958A>G	ENST00000316694.3	-	10	1216	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	SHMT1_ENST00000352886.6_Missense_Mutation_p.V281A|SHMT1_ENST00000539052.1_Missense_Mutation_p.V223A|SHMT1_ENST00000354098.3_Missense_Mutation_p.V322A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	361					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	ACGGAGATCCACAAGGATCAA	0.478																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1081-1083)gTg>gCg		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						103.0	91.0	95.0					17																	18233958		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18233958A>G		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1082T>C	17.37:g.18233958A>G	ENSP00000318868:p.Val361Ala					SHMT1_ENST00000354098.3_Missense_Mutation_p.V322A|SHMT1_ENST00000539052.1_Missense_Mutation_p.V223A|SHMT1_ENST00000352886.6_Missense_Mutation_p.V281A	p.V361A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			10	1216	-			361					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1082T>C	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124243	0.94429	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.56103	0.48;1.31;0.48;1.31	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.385605	0.28589	N	0.014820	T	0.73923	0.3649	M	0.87038	2.855	0.58432	D	0.999996	B;B;B	0.30709	0.09;0.049;0.291	B;B;P	0.49597	0.177;0.087;0.616	T	0.75929	-0.3144	10	0.59425	D	0.04	-17.691	15.9269	0.79624	1.0:0.0:0.0:0.0	.	361;322;361	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	A	361;136;281;223;322;361	ENSP00000318868:V361A;ENSP00000345881:V281A;ENSP00000440089:V223A;ENSP00000318805:V322A	ENSP00000318868:V361A	V	-	2	0	SHMT1	18174683	1.000000	0.71417	0.961000	0.40146	0.937000	0.57800	9.255000	0.95524	2.228000	0.72767	0.533000	0.62120	GTG		0.478	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		15	27	0	0	0	1	0	15	27				
CFAP54	144535	broad.mit.edu	37	12	97085074	97085074	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:97085074A>T	ENST00000524981.4	+	44	6273	c.6250A>T	c.(6250-6252)Agg>Tgg	p.R2084W				Q96N23	CL055_HUMAN		0																	GCACTTTGTTAGGCAAAACCT	0.333																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1603-1605)Agg>Tgg									71.0	65.0	67.0					12																	97085074		2203	4300	6503	SO:0001583	missense	0							g.chr12:97085074A>T																												ENST00000524981.4:c.6250A>T	12.37:g.97085074A>T	ENSP00000431759:p.Arg2084Trp						p.R535W			Q6ZTY8	CL063_HUMAN			11	1603	+			509						Missense_Mutation	SNP	ENST00000524981.4	37	c.1603A>T		.	.	.	.	.	.	.	.	.	.	A	13.81	2.348879	0.41599	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.63	3.14	0.36123	.	0.419469	0.26631	N	0.023305	T	0.40015	0.1100	.	.	.	0.23030	N	0.998401	D	0.58970	0.984	P	0.52554	0.702	T	0.30001	-0.9993	8	0.87932	D	0	-8.8505	4.2222	0.10563	0.6796:0.1281:0.069:0.1233	.	509	Q6ZTY8	CL063_HUMAN	W	2084;509	.	ENSP00000345466:R509W	R	+	1	2	C12orf63	95609205	0.993000	0.37304	0.989000	0.46669	0.037000	0.13140	2.526000	0.45607	1.064000	0.40671	0.533000	0.62120	AGG		0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			31	30	0	0	0	1	0	31	30				
MYBPC1	4604	broad.mit.edu	37	12	102023226	102023226	+	Missense_Mutation	SNP	G	G	A	rs200051611	byFrequency	TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:102023226G>A	ENST00000550270.1	+	4	118	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	MYBPC1_ENST00000547405.1_Missense_Mutation_p.E14K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E27K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E26K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E28K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E53K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E40K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	40					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCCTTGTCGAAACTCCTCC	0.483													G|||	2	0.000399361	0.0	0.0014	5008	,	,		12051	0.0		0.001	False		,,,				2504	0.0					ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(157-159)Gaa>Aaa		myosin binding protein C, slow type							87.0	83.0	85.0					12																	102023226		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102023226G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.118G>A	12.37:g.102023226G>A	ENSP00000449702:p.Glu40Lys					MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E26K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E14K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E28K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E27K|MYBPC1_ENST00000551300.1_5'UTR	p.E53K			Q00872	MYPC1_HUMAN			5	257	+			40					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.157G>A	CCDS9085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.82	2.945445	0.53079	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61742	0.15;0.23;0.21;0.22;0.22;0.08;0.18;0.25;0.23;0.21;0.17;0.18;0.2;0.22	6.16	6.16	0.99307	.	0.000000	0.51477	D	0.000089	T	0.60261	0.2255	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P;P;P;P;P;D;P	0.55172	0.832;0.881;0.731;0.95;0.528;0.661;0.928;0.802;0.824;0.97;0.947	B;B;B;B;B;B;B;B;B;B;P	0.46237	0.154;0.254;0.102;0.254;0.169;0.154;0.439;0.254;0.231;0.439;0.508	T	0.61476	-0.7055	10	0.59425	D	0.04	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	40;28;40;40;27;14;40;40;65;65;53	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	K	14;40;40;40;27;26;65;53;40;65;40;40;28;65;40	ENSP00000448175:E14K;ENSP00000400908:E40K;ENSP00000388989:E40K;ENSP00000353822:E40K;ENSP00000376665:E27K;ENSP00000447362:E26K;ENSP00000354845:E65K;ENSP00000447660:E53K;ENSP00000447900:E40K;ENSP00000440034:E40K;ENSP00000446128:E40K;ENSP00000442847:E28K;ENSP00000354849:E65K;ENSP00000449702:E40K	ENSP00000353822:E40K	E	+	1	0	MYBPC1	100547357	1.000000	0.71417	0.138000	0.22173	0.014000	0.08584	8.378000	0.90144	2.937000	0.99478	0.650000	0.86243	GAA		0.483	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			4	43	0	0	0	1	0	4	43				
GLS	2744	broad.mit.edu	37	2	191795225	191795225	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:191795225G>T	ENST00000320717.3	+	13	1746	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	GLS_ENST00000409626.1_Missense_Mutation_p.M67I|GLS_ENST00000338435.4_Missense_Mutation_p.M496I|GLS_ENST00000409215.1_Start_Codon_SNP_p.M1I|GLS_ENST00000409428.1_Start_Codon_SNP_p.M1I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	496					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CCAATGTTATGGGTATGATGT	0.383																																						ENST00000320717.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1486-1488)atG>atT		glutaminase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						145.0	137.0	140.0					2																	191795225		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191795225G>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1488G>T	2.37:g.191795225G>T	ENSP00000317379:p.Met496Ile					GLS_ENST00000409215.1_Start_Codon_SNP_p.M1I|GLS_ENST00000409626.1_Missense_Mutation_p.M67I|GLS_ENST00000409428.1_Start_Codon_SNP_p.M1I|GLS_ENST00000338435.4_Missense_Mutation_p.M496I	p.M496I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		13	1746	+			496					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1488G>T	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038245	0.93630	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.84	5.84	0.93424	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.86178	2.8	0.25243	N	0.989733	P;P;P;P;P	0.50066	0.931;0.692;0.931;0.692;0.837	P;P;P;P;P	0.58970	0.849;0.698;0.656;0.698;0.524	T	0.63337	-0.6660	10	0.56958	D	0.05	-5.876	20.1466	0.98079	0.0:0.0:1.0:0.0	.	67;496;150;496;496	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	I	496;496;67;67;1;1;17	ENSP00000317379:M496I;ENSP00000340689:M496I;ENSP00000386417:M67I;ENSP00000395596:M67I;ENSP00000387177:M1I;ENSP00000387135:M1I;ENSP00000403329:M17I	ENSP00000317379:M496I	M	+	3	0	GLS	191503470	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.869000	0.99810	2.779000	0.95612	0.591000	0.81541	ATG		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			35	58	1	0	2.09667e-21	1	2.13048e-21	35	58				
FIP1L1	81608	broad.mit.edu	37	4	54308818	54308818	+	Splice_Site	SNP	A	A	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:54308818A>C	ENST00000337488.6	+	14	1368		c.e14-1		FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000358575.5_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAATGTTTCAGGTTTTCCTC	0.353			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.e14-1		factor interacting with PAPOLA and CPSF1							133.0	128.0	130.0					4																	54308818		2203	4300	6503	SO:0001630	splice_region_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54308818A>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1175-1A>C	4.37:g.54308818A>C						FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Splice_Site		NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		14	1368	+								B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Splice_Site	SNP	ENST00000337488.6	37		CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394539	0.62066	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4214	0.67185	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FIP1L1	54003575	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.594000	0.67557	2.287000	0.76781	0.482000	0.46254	.		0.353	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	Intron	1095	72	0	0	0	1	0	1095	72				
ZC3H12C	85463	broad.mit.edu	37	11	110036055	110036055	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:110036055G>A	ENST00000278590.3	+	6	2296	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D750N|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D718N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	749							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACGAGAATAGACAGCATCTC	0.577																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2152-2154)Gac>Aac		zinc finger CCCH-type containing 12C							159.0	168.0	165.0					11																	110036055		2103	4224	6327	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036055G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2245G>A	11.37:g.110036055G>A	ENSP00000278590:p.Asp749Asn					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D750N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D749N	p.D718N			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	3033	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	749					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2152G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191296	0.38707	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.39592	1.07;1.07;1.08	5.92	5.92	0.95590	.	0.164448	0.56097	D	0.000037	T	0.44498	0.1296	L	0.50333	1.59	0.39282	D	0.964576	P;P;P	0.46395	0.651;0.877;0.651	B;B;B	0.43194	0.212;0.411;0.212	T	0.27226	-1.0080	10	0.27082	T	0.32	-28.8676	20.3206	0.98668	0.0:0.0:1.0:0.0	.	750;749;749	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	749;750;718	ENSP00000278590:D749N;ENSP00000431821:D750N;ENSP00000413094:D718N	ENSP00000278590:D749N	D	+	1	0	ZC3H12C	109541265	1.000000	0.71417	0.990000	0.47175	0.231000	0.25187	9.342000	0.97044	2.809000	0.96659	0.655000	0.94253	GAC		0.577	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		44	48	0	0	0	1	0	44	48				
NEBL	10529	broad.mit.edu	37	10	21185916	21185916	+	Missense_Mutation	SNP	C	C	A	rs201423708		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:21185916C>A	ENST00000377122.4	-	2	520	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.A42S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	42					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTTTCTGGCCAATTCCATG	0.338																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(124-126)Gcc>Tcc		nebulette							161.0	161.0	161.0					10																	21185916		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21185916C>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.124G>T	10.37:g.21185916C>A	ENSP00000366326:p.Ala42Ser					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.A42S|NEBL_ENST00000377159.4_Intron	p.A42S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			2	520	-			42					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.124G>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792772	0.90453	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.67171	-0.25;-0.25;-0.25	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.75264	2.295	0.80722	D	1	P	0.41475	0.751	P	0.51055	0.657	T	0.78157	-0.2313	10	0.52906	T	0.07	.	17.9308	0.88996	0.0:1.0:0.0:0.0	.	42	O76041	NEBL_HUMAN	S	42;42;26	ENSP00000366326:A42S;ENSP00000366323:A42S;ENSP00000396512:A26S	ENSP00000366323:A42S	A	-	1	0	NEBL	21225922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.677000	0.68142	2.648000	0.89879	0.655000	0.94253	GCC		0.338	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		21	151	1	0	8.10497e-08	1	8.10497e-08	21	151				
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		1	Substitution - Missense(1)	p.F808L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2422-2424)ttfs		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						71.0	69.0	70.0					4																	55151636		2203	4300	6503	SO:0001589	frameshift_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151636delT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2422delT	4.37:g.55151636delT	ENSP00000257290:p.Phe808fs	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	p.F808fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2753	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		808			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Frame_Shift_Del	DEL	ENST00000257290.5	37	c.2422delT	CCDS3495.1																																																																																				0.418	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		7	2181						7	2181	---	---	---	---
CCDC109B	55013	broad.mit.edu	37	4	110581443	110581443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:110581443delT	ENST00000394650.4	+	3	401	c.268delT	c.(268-270)ttgfs	p.L90fs	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	90					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAAACCAATGTTGTCAACAGT	0.363																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(268-270)tgfs		coiled-coil domain containing 109B							95.0	80.0	85.0					4																	110581443		2203	4300	6503	SO:0001589	frameshift_variant	55013					integral to membrane		g.chr4:110581443delT	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.268delT	4.37:g.110581443delT	ENSP00000378145:p.Leu90fs					CCDC109B_ENST00000515114.1_3'UTR	p.L90fs	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	3	401	+			90					A8K4Y3|Q6IAC1	Frame_Shift_Del	DEL	ENST00000394650.4	37	c.268delT	CCDS3683.2																																																																																				0.363	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		23	26						23	26	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99282842	99282842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:99282842delG	ENST00000328345.5	+	1	263	c.93delG	c.(91-93)gcgfs	p.A31fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	31					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCAGGGCGCGGGGGGCTACC	0.701																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(91-93)gcfs		POU class 3 homeobox 2							13.0	16.0	15.0					6																	99282842		2106	4134	6240	SO:0001589	frameshift_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99282842delG	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.93delG	6.37:g.99282842delG	ENSP00000329170:p.Ala31fs						p.A31fs	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	263	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	31					Q14960|Q86V54|Q9UJL0	Frame_Shift_Del	DEL	ENST00000328345.5	37	c.93delG	CCDS5040.1																																																																																				0.701	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			2	4						2	4	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	4						3	4	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100564322	100564322	+	RNA	DEL	G	G	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:100564322delG	ENST00000397112.4	-	0	599				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GCCAGGGGATGGGGCAGGCGG	0.582																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100564322delG																													12.37:g.100564322delG								NR_036632.1						0	599	-								Q9NSV2	RNA	DEL	ENST00000397112.4	37																																																																																						0.582	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			2	4						2	4	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42170651	42170652	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:42170651_42170652delCT	ENST00000320955.6	-	17	3585_3586	c.3358_3359delAG	c.(3358-3360)agtfs	p.S1120fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1120					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)		AGCCTGGACACTCTCTGCCCAC	0.639																																						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.(3358-3360)tfs		spectrin, beta, non-erythrocytic 5																																				SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42170651_42170652delCT	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.3358_3359delAG	15.37:g.42170655_42170656delCT	ENSP00000317790:p.Ser1120fs						p.S1120fs	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)	17	3585_3586	-		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)	1120						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.3358_3359delAG																																																																																					0.639	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		9	16						9	16	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	byFrequency	TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e6-1																																						SO:0001630	splice_region_variant	0							g.chr20:29628226delG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.229-1G>-	20.37:g.29628226delG						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								6	608	+								C4AME5	Splice_Site	DEL	ENST00000278882.3	37																																																																																						0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	7	124						7	124	---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800304	21800304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr22:21800304delC	ENST00000443632.2	+	2	1492	c.1120delC	c.(1120-1122)cccfs	p.P374fs	HIC2_ENST00000407598.2_Frame_Shift_Del_p.P374fs|HIC2_ENST00000407464.2_Frame_Shift_Del_p.P374fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	374					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGACAGGGTTCCCAATGGCAT	0.667																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1120-1122)ccfs		hypermethylated in cancer 2							6.0	8.0	7.0					22																	21800304		2070	4061	6131	SO:0001589	frameshift_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800304delC	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1120delC	22.37:g.21800304delC	ENSP00000387757:p.Pro374fs					HIC2_ENST00000407598.2_Frame_Shift_Del_p.P374fs|HIC2_ENST00000407464.2_Frame_Shift_Del_p.P374fs	p.P374fs			Q96JB3	HIC2_HUMAN			2	1492	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	374					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Del	DEL	ENST00000443632.2	37	c.1120delC	CCDS13789.1																																																																																				0.667	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			2	4						2	4	---	---	---	---
