#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF1	55672	broad.mit.edu	37	1	16890543	16890543	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16890543C>G	ENST00000430580.2	-	29	4202	c.3315G>C	c.(3313-3315)gaG>gaC	p.E1105D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1085	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTGCTGTTCCTCAAATGAGT	0.453																																						ENST00000430580.2																			0											c.(3313-3315)gaG>gaC		neuroblastoma breakpoint family, member 1							742.0	639.0	674.0					1																	16890543		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16890543C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3315G>C	1.37:g.16890543C>G	ENSP00000474456:p.Glu1105Asp						p.E1105D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4202	-			1085			NBPF 7.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3315G>C																																																																																					0.453	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		52	770	52	770	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577018	158577018	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:158577018G>A	ENST00000361284.1	+	1	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGCCCAAAGCCAGCTACTC	0.483																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(790-792)Gcc>Acc		olfactory receptor, family 10, subfamily Z, member 1							214.0	217.0	216.0					1																	158577018		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577018G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.790G>A	1.37:g.158577018G>A	ENSP00000354707:p.Ala264Thr						p.A264T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	790	+	all_hematologic(112;0.0378)		264					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.790G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139536	0.37728	.	.	ENSG00000198967	ENST00000361284	T	0.00099	8.73	5.05	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.449678	0.16668	N	0.204473	T	0.00039	0.0001	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.43065	-0.9414	10	0.52906	T	0.07	.	4.2196	0.10551	0.1776:0.0:0.3591:0.4634	.	264	Q8NGY1	O10Z1_HUMAN	T	264	ENSP00000354707:A264T	ENSP00000354707:A264T	A	+	1	0	OR10Z1	156843642	0.000000	0.05858	0.995000	0.50966	0.933000	0.57130	-0.174000	0.09839	0.230000	0.21059	0.650000	0.86243	GCC		0.483	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		5	243	5	243	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180793908	180793908	+	Silent	SNP	A	A	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:180793908A>T	ENST00000367590.4	+	8	981	c.783A>T	c.(781-783)acA>acT	p.T261T	XPR1_ENST00000367589.3_Silent_p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACTTGAAACAGATAGAAGTA	0.338																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(781-783)acA>acT		xenotropic and polytropic retrovirus receptor 1							87.0	93.0	91.0					1																	180793908		2201	4298	6499	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793908A>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.783A>T	1.37:g.180793908A>T						XPR1_ENST00000367589.3_Silent_p.T261T	p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	981	+			261					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.783A>T	CCDS1340.1																																																																																				0.338	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		10	43	10	43	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr2:130877866T>C	ENST00000409914.2	-	3	622	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000357462.5_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(223-225)Agt>Ggt		POTE ankyrin domain family, member F							79.0	110.0	100.0					2																	130877866		2197	4296	6493	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877866T>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.223A>G	2.37:g.130877866T>C	ENSP00000386786:p.Ser75Gly					POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G	p.S75G			A5A3E0	POTEF_HUMAN			1	316	-			75					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.223A>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.45	1.353098	0.24512	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.79653	-1.29;-1.29;1.51;1.49	.	.	.	.	.	.	.	.	T	0.76513	0.3998	L	0.61218	1.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.68792	-0.5315	7	0.87932	D	0	.	.	.	.	.	75	A5A3E0	POTEF_HUMAN	G	75	ENSP00000350052:S75G;ENSP00000386786:S75G;ENSP00000354232:S75G;ENSP00000355012:S75G	ENSP00000350052:S75G	S	-	1	0	POTEF	130594336	0.001000	0.12720	0.050000	0.19076	0.117000	0.20001	-1.119000	0.03276	0.129000	0.18514	0.128000	0.15822	AGT		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		3	202	3	202	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175041963	175041963	+	Splice_Site	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:175041963G>T	ENST00000454872.1	+	5	1067		c.e5-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCCTCTTTTAGCTTTCCTCAT	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e5-1		N-acetylated alpha-linked acidic dipeptidase-like 2							220.0	212.0	215.0					3																	175041963		1849	4092	5941	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175041963G>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.940-1G>T	3.37:g.175041963G>T						NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1067	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)						Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37		CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914013	0.52546	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.41	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9612	0.64180	0.0:0.0:0.8482:0.1518	.	.	.	.	.	-1	.	.	.	+	.	.	NAALADL2	176524657	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.038000	0.76537	1.493000	0.48517	0.563000	0.77884	.		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	5	173	5	173	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193051645	193051645	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:193051645G>A	ENST00000342358.4	-	11	1283	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	389						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGTTCAGAGGCCGGGGGTA	0.453																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1165-1167)cCt>cTt		ATPase type 13A5							103.0	100.0	101.0					3																	193051645		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193051645G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1166C>T	3.37:g.193051645G>A	ENSP00000341942:p.Pro389Leu						p.P389L	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	11	1283	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		389					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1166C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100974	0.94245	.	.	ENSG00000187527	ENST00000342358	D	0.91521	-2.86	5.53	5.53	0.82687	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000002	D	0.96818	0.8961	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97697	1.0182	10	0.87932	D	0	-11.8991	18.0274	0.89273	0.0:0.0:1.0:0.0	.	389	Q4VNC0	AT135_HUMAN	L	389	ENSP00000341942:P389L	ENSP00000341942:P389L	P	-	2	0	ATP13A5	194534339	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.794000	0.99096	2.611000	0.88343	0.650000	0.86243	CCT		0.453	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	31	8	31	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77661470	77661470	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:77661470A>G	ENST00000296043.6	+	5	3097	c.2144A>G	c.(2143-2145)cAt>cGt	p.H715R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	715					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCGGGAGCCATCTGGACCGG	0.677																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2143-2145)cAt>cGt		shroom family member 3							44.0	55.0	51.0					4																	77661470		2180	4260	6440	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661470A>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2144A>G	4.37:g.77661470A>G	ENSP00000296043:p.His715Arg						p.H715R	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3097	+			715					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2144A>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	a	11.45	1.641563	0.29157	.	.	ENSG00000138771	ENST00000296043	T	0.26810	1.71	5.65	0.646	0.17789	.	0.898283	0.09569	N	0.784396	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.10450	0.005;0.002;0.005	T	0.33343	-0.9872	10	0.24483	T	0.36	-2.8581	5.2801	0.15670	0.6319:0.1532:0.2149:0.0	.	539;715;493	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	R	715	ENSP00000296043:H715R	ENSP00000296043:H715R	H	+	2	0	SHROOM3	77880494	0.010000	0.17322	0.012000	0.15200	0.002000	0.02628	1.929000	0.40114	0.103000	0.17682	-0.477000	0.04895	CAT		0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		18	70	18	70	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89939768	89939768	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr5:89939768T>C	ENST00000405460.2	+	14	2798	c.2702T>C	c.(2701-2703)aTa>aCa	p.I901T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	901	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTGATGATAAATGAAAGC	0.299																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2701-2703)aTa>aCa		G protein-coupled receptor 98							100.0	98.0	99.0					5																	89939768		1842	4091	5933	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89939768T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2702T>C	5.37:g.89939768T>C	ENSP00000384582:p.Ile901Thr						p.I901T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	14	2798	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	901					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2702T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439549	0.83885	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28454	1.61	5.35	5.35	0.76521	Na-Ca exchanger/integrin-beta4 (1);	0.044240	0.85682	D	0.000000	T	0.54351	0.1853	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.59220	-0.7495	10	0.87932	D	0	.	15.327	0.74172	0.0:0.0:0.0:1.0	.	901	Q8WXG9	GPR98_HUMAN	T	901	ENSP00000384582:I901T	ENSP00000296619:I901T	I	+	2	0	GPR98	89975524	1.000000	0.71417	0.978000	0.43139	0.883000	0.51084	7.002000	0.76304	2.024000	0.59613	0.533000	0.62120	ATA		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	13	10	13	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:128134393C>A	ENST00000368248.2	-	4	1541	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.D386Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	465	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGAAAGATCCCTGACAGAC	0.468																																						ENST00000368250.1																			1	Substitution - Missense(1)	p.D465Y(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1156-1158)Gat>Tat		thymocyte selection associated							80.0	81.0	81.0					6																	128134393		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134393C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1393G>T	6.37:g.128134393C>A	ENSP00000357231:p.Asp465Tyr					THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y	p.D386Y			Q8N1K5	THMS1_HUMAN			5	1654	-			465			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1156G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363448	0.61513	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43032	-0.9416	10	0.87932	D	0	-24.119	19.8145	0.96560	0.0:1.0:0.0:0.0	.	465;465	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Y	386;465;465;430	ENSP00000357233:D386Y;ENSP00000439594:D465Y;ENSP00000357231:D465Y;ENSP00000439863:D430Y	ENSP00000357231:D465Y	D	-	1	0	THEMIS	128176086	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.223000	0.72257	2.683000	0.91414	0.563000	0.77884	GAT		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		7	43	7	43	---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24254909	24254909	+	Silent	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:24254909G>A	ENST00000256412.4	+	6	787	c.567G>A	c.(565-567)gtG>gtA	p.V189V	ADAMDEC1_ENST00000522298.1_Silent_p.V110V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.V110V	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	189					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATGTGGTGTGAAGAGCACTG	0.438																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(328-330)gtG>gtA		ADAM-like, decysin 1							216.0	208.0	210.0					8																	24254909		2203	4300	6503	SO:0001819	synonymous_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254909G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.567G>A	8.37:g.24254909G>A						ADAMDEC1_ENST00000256412.4_Silent_p.V189V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.V110V	p.V110V	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	877	+		Prostate(55;0.0181)	189					B7ZAK5	Silent	SNP	ENST00000256412.4	37	c.330G>A	CCDS6044.1																																																																																				0.438	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		35	137	35	137	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131859738	131859738	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:131859738A>T	ENST00000286355.5	-	11	4526	c.2434T>A	c.(2434-2436)Tcg>Acg	p.S812T	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	812					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGGGTATCGACTTGTCAAAA	0.393										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2434-2436)Tcg>Acg		adenylate cyclase 8 (brain)							68.0	67.0	67.0					8																	131859738		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131859738A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2434T>A	8.37:g.131859738A>T	ENSP00000286355:p.Ser812Thr	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.S812T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	4526	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		812						Missense_Mutation	SNP	ENST00000286355.5	37	c.2434T>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.673978	0.29693	.	.	ENSG00000155897	ENST00000286355	T	0.79554	-1.28	5.9	4.69	0.59074	.	0.359809	0.28778	N	0.014169	T	0.60301	0.2258	N	0.16478	0.41	0.80722	D	1	B	0.20368	0.044	B	0.14578	0.011	T	0.54186	-0.8331	10	0.11182	T	0.66	.	5.7452	0.18116	0.7642:0.0:0.0838:0.1519	.	812	P40145	ADCY8_HUMAN	T	812	ENSP00000286355:S812T	ENSP00000286355:S812T	S	-	1	0	ADCY8	131928920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.224000	0.58593	2.264000	0.75181	0.533000	0.62120	TCG		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	27	5	27	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5701211	5701211	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:5701211T>G	ENST00000380034.3	-	2	453	c.197A>C	c.(196-198)aAc>aCc	p.N66T	TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000305836.5_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	66					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGCCGTATGTTCTCAGGCTG	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(196-198)aAc>aCc		tripartite motif containing 5							154.0	134.0	141.0					11																	5701211		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701211T>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.197A>C	11.37:g.5701211T>G	ENSP00000369373:p.Asn66Thr					TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T	p.N66T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	499	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	66					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.197A>C	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	T	9.611	1.131210	0.21041	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.07	2.95	0.34219	Zinc finger, RING/FYVE/PHD-type (1);	0.324035	0.27088	N	0.020983	D	0.89504	0.6734	M	0.82433	2.59	0.09310	N	1	D;D;D	0.71674	0.985;0.971;0.998	P;P;D	0.64687	0.844;0.786;0.928	T	0.80665	-0.1281	10	0.87932	D	0	.	3.4722	0.07571	0.1971:0.1061:0.0:0.6968	.	66;66;66	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	T	66	ENSP00000380064:N66T;ENSP00000307031:N66T;ENSP00000369373:N66T;ENSP00000369366:N66T;ENSP00000380058:N66T;ENSP00000380062:N66T;ENSP00000388031:N66T;ENSP00000388150:N66T	ENSP00000307031:N66T	N	-	2	0	TRIM5	5657787	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.089000	0.15002	0.915000	0.36847	0.528000	0.53228	AAC		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		4	106	4	106	---	---	---	---
NEMF	9147	broad.mit.edu	37	14	50251653	50251653	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr14:50251653C>T	ENST00000298310.5	-	32	3592	c.3143G>A	c.(3142-3144)cGc>cAc	p.R1048H	NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H			O60524	NEMF_HUMAN	nuclear export mediator factor	1048					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTACGCTGCGGAATAAGTC	0.333																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(3142-3144)cGc>cAc		nuclear export mediator factor							97.0	103.0	101.0					14																	50251653		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50251653C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.3143G>A	14.37:g.50251653C>T	ENSP00000298310:p.Arg1048His					NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000556925.1_5'UTR	p.R1048H			O60524	NEMF_HUMAN			32	3592	-			1048					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.3143G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982308	0.93044	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046	T;T;T	0.50001	0.77;0.77;0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.988;0.982;0.999;0.996	T	0.75102	-0.3436	10	0.87932	D	0	-6.096	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1027;1023;1006;1048;248	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	H	1048;1006;248;1027	ENSP00000298310:R1048H;ENSP00000438309:R1006H;ENSP00000441016:R1027H	ENSP00000298310:R1048H	R	-	2	0	NEMF	49321403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.958000	0.76025	2.818000	0.97014	0.591000	0.81541	CGC		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		15	65	15	65	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327345	85327345	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr15:85327345G>T	ENST00000560079.2	+	4	1727	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G480V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	480					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCACAGACAGGCAAGAAGCAA	0.632																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1438-1440)gGc>gTc		zinc finger protein 592							53.0	44.0	47.0					15																	85327345		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327345G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1439G>T	15.37:g.85327345G>T	ENSP00000452877:p.Gly480Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V	p.G480V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1461	+			480					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1439G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949646	0.18431	.	.	ENSG00000166716	ENST00000299927	T	0.00603	6.28	4.91	4.91	0.64330	.	0.830112	0.11325	N	0.575654	T	0.00412	0.0013	N	0.01874	-0.695	0.58432	D	0.999998	B	0.30361	0.277	B	0.29942	0.109	T	0.81161	-0.1059	10	0.25751	T	0.34	-18.5215	15.6232	0.76824	0.0:0.0:1.0:0.0	.	480	Q92610	ZN592_HUMAN	V	480	ENSP00000299927:G480V	ENSP00000299927:G480V	G	+	2	0	ZNF592	83128349	0.169000	0.23002	0.973000	0.42090	0.535000	0.34838	0.376000	0.20535	2.251000	0.74343	0.563000	0.77884	GGC		0.632	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		3	32	3	32	---	---	---	---
PRSS27	83886	broad.mit.edu	37	16	2770147	2770147	+	Silent	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:2770147C>T	ENST00000302641.3	-	1	69	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	5						extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCGGCACCGCCGCCGGCCGCC	0.692																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(13-15)gcG>gcA		protease, serine 27							19.0	20.0	20.0					16																	2770147		2178	4264	6442	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2770147C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.15G>A	16.37:g.2770147C>T							p.A5A	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			1	69	-			5						Silent	SNP	ENST00000302641.3	37	c.15G>A	CCDS10476.1																																																																																				0.692	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		4	4	4	4	---	---	---	---
ASPA	443	broad.mit.edu	37	17	3379480	3379480	+	Silent	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:3379480A>G	ENST00000263080.2	+	1	185	c.27A>G	c.(25-27)gaA>gaG	p.E9E	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	9					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGAAGAACATATACAAA	0.383																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(25-27)gaA>gaG		aspartoacylase	L-Aspartic Acid(DB00128)						113.0	111.0	112.0					17																	3379480		2203	4300	6503	SO:0001819	synonymous_variant	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3379480A>G	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.27A>G	17.37:g.3379480A>G						SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	p.E9E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			1	185	+			9						Silent	SNP	ENST00000263080.2	37	c.27A>G	CCDS11028.1																																																																																				0.383	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		21	86	21	86	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10404784	10404784	+	Silent	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:10404784C>T	ENST00000226207.5	-	27	3475	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1127					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGCTCTGCCTCGATTTCCT	0.542																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3379-3381)gaG>gaA		myosin, heavy chain 1, skeletal muscle, adult							36.0	41.0	39.0					17																	10404784		2203	4294	6497	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404784C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3381G>A	17.37:g.10404784C>T						CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.E1127E	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3475	-			1127					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3381G>A	CCDS11155.1																																																																																				0.542	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		3	51	3	51	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34934521	34934521	+	Silent	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:34934521G>A	ENST00000304718.4	+	7	1066	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	250					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGAAGGCTTGCGGTGCTGTC	0.458																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(748-750)ttG>ttA		gametogenetin binding protein 2							196.0	181.0	186.0					17																	34934521		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34934521G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.750G>A	17.37:g.34934521G>A							p.L250L	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	1066	+		Breast(25;0.00957)|Ovarian(249;0.17)	250					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.750G>A	CCDS11314.1																																																																																				0.458	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		67	152	67	152	---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11560110	11560110	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:11560110G>A	ENST00000589838.1	+	16	1470	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000252455.2_Missense_Mutation_p.M490I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	490					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AAGAGACCATGGTGACCAGCA	0.692																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1468-1470)atG>atA		protein kinase C substrate 80K-H							60.0	55.0	57.0					19																	11560110		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11560110G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1470G>A	19.37:g.11560110G>A	ENSP00000465461:p.Met490Ile					PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I	p.M490I	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1806	+			490					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1470G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	5.298	0.240384	0.10023	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.82167	-1.58;-1.58	3.72	2.6	0.31112	Mannose-6-phosphate receptor, binding (1);	0.332477	0.28182	N	0.016285	T	0.66127	0.2758	N	0.12182	0.205	0.19945	N	0.999945	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.56456	-0.7976	10	0.35671	T	0.21	-13.6047	9.8819	0.41238	0.0:0.0:0.6528:0.3472	.	497;497;487;490	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	I	490;487	ENSP00000252455:M490I;ENSP00000395616:M487I	ENSP00000252455:M490I	M	+	3	0	PRKCSH	11421110	0.719000	0.27986	0.851000	0.33527	0.320000	0.28249	0.689000	0.25437	1.895000	0.54865	0.563000	0.77884	ATG		0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			5	66	5	66	---	---	---	---
FXYD3	5349	broad.mit.edu	37	19	35613746	35613746	+	Intron	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:35613746G>T	ENST00000344013.6	+	6	368				FXYD3_ENST00000435734.2_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000535103.1_Intron|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGTCATGAGTGAGTGGAGGAG	0.632																																						ENST00000435734.2																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(175-177)Gag>Tag		FXYD domain containing ion transport regulator 3							69.0	74.0	72.0					19																	35613746		2203	4300	6503	SO:0001627	intron_variant	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613746G>T	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.172+3G>T	19.37:g.35613746G>T						FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000344013.6_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron	p.E59*	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	434	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		58					A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Nonsense_Mutation	SNP	ENST00000344013.6	37	c.175G>T	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213989	0.39102	.	.	ENSG00000089356	ENST00000406242;ENST00000346446	.	.	.	4.97	0.236	0.15471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8981	0.29719	0.3569:0.0:0.6431:0.0	.	.	.	.	X	59	.	.	E	+	1	0	FXYD3	40305586	1.000000	0.71417	0.968000	0.41197	0.040000	0.13550	0.333000	0.19768	0.153000	0.19213	-0.128000	0.14901	GAG		0.632	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		4	135	4	135	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38057181	38057181	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:38057181C>G	ENST00000328550.2	-	4	248	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCACACAACTGGATTCCAA	0.328																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(148-150)aGt>aCt		zinc finger protein 571							54.0	58.0	57.0					19																	38057181		2193	4290	6483	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38057181C>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.149G>C	19.37:g.38057181C>G	ENSP00000333660:p.Ser50Thr					ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA	p.S50T			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	248	-			50			KRAB.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.149G>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	1.924	-0.447568	0.04572	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.00824	5.65;5.65;5.65	3.45	-1.87	0.07737	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45991	-0.9223	9	0.32370	T	0.25	.	2.3498	0.04280	0.393:0.2711:0.0:0.3359	.	50	Q7Z3V5	ZN571_HUMAN	T	50	ENSP00000333660:S50T;ENSP00000392638:S50T;ENSP00000351594:S50T	ENSP00000333660:S50T	S	-	2	0	ZNF571	42749021	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-3.759000	0.00373	-0.118000	0.11851	0.313000	0.20887	AGT		0.328	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		8	38	8	38	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546933	9546933	+	Silent	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:9546933T>C	ENST00000378429.3	-	6	1635	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	363	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATAGCCCGATTTGCTTTGAC	0.557																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1087-1089)aaA>aaG		p21 protein (Cdc42/Rac)-activated kinase 7							165.0	163.0	164.0					20																	9546933		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546933T>C	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1089A>G	20.37:g.9546933T>C						PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1635	-			363			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1089A>G	CCDS13107.1																																																																																				0.557	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			3	142	3	142	---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18142699	18142699	+	Silent	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:18142699A>G	ENST00000435364.3	+	5	1259	c.918A>G	c.(916-918)aaA>aaG	p.K306K	CSRP2BP_ENST00000377681.3_Silent_p.K305K|CSRP2BP_ENST00000489634.2_Silent_p.K178K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	306					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTCTGGAAAAAGGCGAAGTGA	0.542																																						ENST00000435364.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(916-918)aaA>aaG		CSRP2 binding protein							124.0	140.0	135.0					20																	18142699		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142699A>G	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.918A>G	20.37:g.18142699A>G						CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.3_Silent_p.K305K	p.K306K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN			5	1259	+								A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.918A>G	CCDS13133.1																																																																																				0.542	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		3	102	3	102	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36639973	36639973	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:36639973T>C	ENST00000373448.2	-	3	2484	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C|TTI1_ENST00000487362.1_5'Flank	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	749					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCTCTTATCGTAAAATTGGTC	0.498																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2245-2247)tAc>tGc		TELO2 interacting protein 1							64.0	58.0	60.0					20																	36639973		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36639973T>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2246A>G	20.37:g.36639973T>C	ENSP00000362547:p.Tyr749Cys					TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C	p.Y749C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2484	-			749					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2246A>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831519	0.50845	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.66460	-0.21;-0.21;-0.21	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.239554	0.44483	D	0.000451	T	0.76234	0.3959	M	0.67953	2.075	0.51767	D	0.999934	D	0.69078	0.997	P	0.58660	0.843	T	0.77882	-0.2422	10	0.49607	T	0.09	-6.2201	14.1773	0.65549	0.0:0.0:0.0:1.0	.	749	O43156	TTI1_HUMAN	C	749	ENSP00000362547:Y749C;ENSP00000362546:Y749C;ENSP00000407270:Y749C	ENSP00000362546:Y749C	Y	-	2	0	TTI1	36073387	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.843000	0.75384	2.123000	0.65237	0.528000	0.53228	TAC		0.498	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		2	18	2	18	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499387	37499387	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:37499387G>A	ENST00000346753.3	-	2	214	c.98C>T	c.(97-99)cCg>cTg	p.P33L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	33					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CATCCCCTCCGGCTCCGCTTC	0.662																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(70-72)cCg>cTg		transmembrane protease, serine 6							88.0	94.0	92.0					22																	37499387		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499387G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.98C>T	22.37:g.37499387G>A	ENSP00000334962:p.Pro33Leu					TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L	p.P24L			Q8IU80	TMPS6_HUMAN			2	211	-			33					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.71C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556853	0.45590	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91894	-2.92;-2.93;-2.92;-2.92;-1.01;-2.44	4.03	4.03	0.46877	.	0.338840	0.21513	N	0.073342	D	0.93138	0.7815	L	0.36672	1.1	0.44843	D	0.997856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.93410	0.6768	10	0.87932	D	0	.	12.0441	0.53469	0.0:0.0:1.0:0.0	.	33;24;33	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	24;33;24;24;33;24	ENSP00000371211:P24L;ENSP00000334962:P33L;ENSP00000385453:P24L;ENSP00000384964:P24L;ENSP00000397691:P33L;ENSP00000400317:P24L	ENSP00000334962:P33L	P	-	2	0	TMPRSS6	35829333	0.998000	0.40836	0.965000	0.40720	0.110000	0.19582	4.307000	0.59123	1.970000	0.57323	0.498000	0.49722	CCG		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	113	3	113	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24861702	24861702	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:24861702A>G	ENST00000379059.3	+	34	3952	c.3937A>G	c.(3937-3939)Atc>Gtc	p.I1313V	POLA1_ENST00000379068.3_Missense_Mutation_p.I1319V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1313	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTGCAGTAACATCGATTGTAA	0.373																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3955-3957)Atc>Gtc		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						156.0	116.0	130.0					X																	24861702		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24861702A>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3937A>G	X.37:g.24861702A>G	ENSP00000368349:p.Ile1313Val					POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V	p.I1319V			P09884	DPOLA_HUMAN			34	3998	+			1313					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.3955A>G	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	8.935	0.964359	0.18583	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.16324	2.35;2.35	5.82	0.296	0.15757	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.643608	0.16265	N	0.222052	T	0.04907	0.0132	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42172	-0.9467	10	0.13470	T	0.59	-2.1954	5.203	0.15275	0.5332:0.2453:0.2215:0.0	.	1313	P09884	DPOLA_HUMAN	V	1319;1313	ENSP00000368358:I1319V;ENSP00000368349:I1313V	ENSP00000368349:I1313V	I	+	1	0	POLA1	24771623	0.180000	0.23148	0.751000	0.31187	0.928000	0.56348	0.838000	0.27572	0.002000	0.14630	-0.368000	0.07277	ATC		0.373	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		13	16	13	16	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906446	144906446	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:144906446G>T	ENST00000370490.1	+	1	6758	c.2503G>T	c.(2503-2505)Gtt>Ttt	p.V835F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	835					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTCGAAGTTCTGGAAAA	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2503-2505)Gtt>Ttt		SLIT and NTRK-like family, member 2							61.0	56.0	58.0					X																	144906446		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906446G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2503G>T	X.37:g.144906446G>T	ENSP00000359521:p.Val835Phe					SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F	p.V835F			Q9H156	SLIK2_HUMAN			1	6758	+	Acute lymphoblastic leukemia(192;6.56e-05)		835					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2503G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964786	0.74131	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.38	5.38	0.77491	.	0.069614	0.56097	D	0.000029	T	0.77831	0.4189	M	0.65498	2.005	0.54753	D	0.999984	D	0.62365	0.991	P	0.59595	0.86	T	0.80739	-0.1248	10	0.87932	D	0	-7.0323	15.4932	0.75629	0.0:0.0:1.0:0.0	.	835	Q9H156	SLIK2_HUMAN	F	835	ENSP00000411681:V835F;ENSP00000359521:V835F;ENSP00000397015:V835F;ENSP00000407347:V835F;ENSP00000412010:V835F	ENSP00000359521:V835F	V	+	1	0	SLITRK2	144714138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.922000	0.87538	2.251000	0.74343	0.600000	0.82982	GTT		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		21	14	21	14	---	---	---	---
DDX47	51202	broad.mit.edu	37	12	12980209	12980226	+	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	AACACTTAATTGGGAAGA	-			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	ENST00000358007.3	+	11	1158_1175	c.1136_1153delAACACTTAATTGGGAAGA	c.(1135-1155)gaacacttaattgggaagaaa>gaa	p.HLIGKK380del	DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAGCGCATAGAACACTTAATTGGGAAGAAACTACCAGG	0.454																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1135-1155)gaacacttaattgggaagaaa>gaa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47																																				SO:0001651	inframe_deletion	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1136_1153delAACACTTAATTGGGAAGA	12.37:g.12980209_12980226delAACACTTAATTGGGAAGA	ENSP00000350698:p.His380_Lys385del					DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del	p.HLIGKK380del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	11	1158_1175	+		Prostate(47;0.0526)	380			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	In_Frame_Del	DEL	ENST00000358007.3	37	c.1136_1153delAACACTTAATTGGGAAGA	CCDS8655.1																																																																																				0.454	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		11	72	11	72	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128638774	128638774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:128638774delA	ENST00000371122.4	-	9	1233	c.1104delT	c.(1102-1104)tttfs	p.F368fs	SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	368					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACCAAGAATCAAAGTCCTGTA	0.343																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1102-1104)tttfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							124.0	118.0	120.0					X																	128638774		2203	4300	6503	SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128638774delA	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1104delT	X.37:g.128638774delA	ENSP00000360163:p.Phe368fs					SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs	p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			9	1233	-			368					Q5JV41|Q5JV42	Frame_Shift_Del	DEL	ENST00000371122.4	37	c.1104delT	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		44	46	44	46	---	---	---	---
