#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC28A1	9154	broad.mit.edu	37	15	85461836	85461836	+	Splice_Site	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:85461836G>T	ENST00000286749.3	+	9	966		c.e9+1		SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000394573.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GATCCTGAAGGTAAGTTCCCA	0.562																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.e10+1		solute carrier family 28 (concentrative nucleoside transporter), member 1							206.0	180.0	189.0					15																	85461836		2203	4299	6502	SO:0001630	splice_region_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461836G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.876+1G>T	15.37:g.85461836G>T						SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site		NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	1078	+								A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Splice_Site	SNP	ENST00000286749.3	37		CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868353	0.72065	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1206	0.65184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A1	83262840	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.652000	0.91083	2.174000	0.68829	0.655000	0.94253	.		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		Intron	26	34	1	0	2.61193e-14	1	3.08683e-14	26	34				
UHRF1BP1	54887	broad.mit.edu	37	6	34835110	34835110	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:34835110C>T	ENST00000192788.5	+	16	3692	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1174							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCACCAGCAGCCAACAGTTCA	0.507																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3520-3522)gCc>gTc		UHRF1 binding protein 1							97.0	96.0	97.0					6																	34835110		1921	4114	6035	SO:0001583	missense	54887							g.chr6:34835110C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3521C>T	6.37:g.34835110C>T	ENSP00000192788:p.Ala1174Val					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			16	3692	+			1174					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3521C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769789	0.31320	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08102	3.14;3.13	5.23	4.12	0.48240	.	0.284712	0.34580	N	0.003860	T	0.01189	0.0039	N	0.05383	-0.06	0.21416	N	0.999693	B	0.02656	0.0	B	0.04013	0.001	T	0.49133	-0.8971	10	0.25751	T	0.34	-7.3752	4.4413	0.11575	0.0:0.7542:0.0:0.2458	.	1174	Q6BDS2	URFB1_HUMAN	V	1174	ENSP00000192788:A1174V;ENSP00000400628:A1174V	ENSP00000192788:A1174V	A	+	2	0	UHRF1BP1	34943088	1.000000	0.71417	0.972000	0.41901	0.680000	0.39746	3.045000	0.49838	2.593000	0.87608	0.655000	0.94253	GCC		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		8	65	0	0	0	1	0	8	65				
MUC17	140453	broad.mit.edu	37	7	100678493	100678493	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:100678493A>T	ENST00000306151.4	+	3	3860	c.3796A>T	c.(3796-3798)Acc>Tcc	p.T1266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1266	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGCTGAAGGTACCAGCTTGCC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3796-3798)Acc>Tcc		mucin 17, cell surface associated							286.0	275.0	279.0					7																	100678493		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678493A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3796A>T	7.37:g.100678493A>T	ENSP00000302716:p.Thr1266Ser						p.T1266S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3860	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1266			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3796A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.416858	0.01136	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.48917	-0.8992	8	0.27082	T	0.32	.	.	.	.	.	1266	Q685J3	MUC17_HUMAN	S	1266	ENSP00000302716:T1266S	ENSP00000302716:T1266S	T	+	1	0	MUC17	100465213	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.316000	0.08071	-1.569000	0.01668	-1.601000	0.00813	ACC		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		112	311	0	0	0	1	0	112	311				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	29	0	0	0	1	0	3	29				
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A	rs185367421		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56422072G>A	ENST00000342929.3	-	6	2138	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000588751.1_Silent_p.H713H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2137-2139)caC>caT		NLR family, pyrin domain containing 13							170.0	148.0	155.0					19																	56422072		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56422072G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2139C>T	19.37:g.56422072G>A						NLRP13_ENST00000342929.3_Silent_p.H713H	p.H713H			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2163	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	713					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2139C>T	CCDS33119.1																																																																																				0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		29	78	0	0	0	1	0	29	78				
C9orf85	138241	broad.mit.edu	37	9	74587611	74587611	+	Intron	SNP	G	G	T	rs370077755		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:74587611G>T	ENST00000377031.3	+	3	513				C9orf85_ENST00000334731.2_Missense_Mutation_p.L109F|C9orf85_ENST00000486911.2_Intron			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85											kidney(2)|large_intestine(1)|lung(4)	7						TCTTTAGGTTGAATAAAGAAA	0.284																																						ENST00000334731.2																			0				kidney(2)|large_intestine(1)|lung(4)	7						c.(325-327)ttG>ttT		chromosome 9 open reading frame 85							42.0	46.0	44.0					9																	74587611		2201	4295	6496	SO:0001627	intron_variant	138241							g.chr9:74587611G>T	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.323+1077G>T	9.37:g.74587611G>T						C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	p.L109F	NM_182505.3	NP_872311.2	Q96MD7	CI085_HUMAN			4	517	+			0					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	ENST00000377031.3	37	c.327G>T		.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315134	0.01331	.	.	ENSG00000155621	ENST00000334731	.	.	.	5.08	1.39	0.22231	.	.	.	.	.	T	0.46249	0.1383	M	0.72894	2.215	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	8	0.09590	T	0.72	.	4.1514	0.10240	0.0:0.2408:0.1861:0.5731	.	109	Q96MD7-1	.	F	109	.	ENSP00000334289:L109F	L	+	3	2	C9orf85	73777431	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	0.584000	0.23864	0.280000	0.22209	-1.064000	0.02280	TTG		0.284	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		3	52	1	0	1	1	1	3	52				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		20	10	0	0	0	1	0	20	10				
TTBK2	146057	broad.mit.edu	37	15	43038000	43038000	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43038000C>T	ENST00000267890.6	-	15	3836	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1243					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCCTATCTGCTGAGTTTACT	0.493																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3727-3729)aGc>aAc		tau tubulin kinase 2							110.0	118.0	115.0					15																	43038000		1954	4160	6114	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038000C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3728G>A	15.37:g.43038000C>T	ENSP00000267890:p.Ser1243Asn						p.S1243N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3836	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1243					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3728G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484423	0.84854	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.56941	0.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	T	0.61377	-0.7075	10	0.87932	D	0	.	19.0161	0.92896	0.0:1.0:0.0:0.0	.	1243	Q6IQ55	TTBK2_HUMAN	N	1243;1173;1648	ENSP00000267890:S1243N	ENSP00000263802:S1648N	S	-	2	0	TTBK2	40825292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.190000	0.65104	2.726000	0.93360	0.655000	0.94253	AGC		0.493	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		29	56	0	0	0	1	0	29	56				
PXDC1	221749	broad.mit.edu	37	6	3727804	3727804	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:3727804C>T	ENST00000380283.4	-	4	1053	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	187							phosphatidylinositol binding (GO:0035091)										GTTGGGTCCACGCCCAGCTGC	0.428																																						ENST00000380283.4																			0											c.(559-561)Gtg>Atg		PX domain containing 1							122.0	112.0	115.0					6																	3727804		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3727804C>T	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.559G>A	6.37:g.3727804C>T	ENSP00000369636:p.Val187Met					PXDC1_ENST00000477592.2_5'UTR	p.V187M	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN			4	1053	-			187					A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.559G>A	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344329	0.41498	.	.	ENSG00000168994	ENST00000380283	T	0.35048	1.33	5.41	3.64	0.41730	.	0.360024	0.31772	N	0.007092	T	0.13286	0.0322	L	0.40543	1.245	0.25272	N	0.989502	B	0.12630	0.006	B	0.08055	0.003	T	0.19484	-1.0304	10	0.62326	D	0.03	-14.4166	10.4036	0.44243	0.1321:0.7959:0.0:0.0719	.	187	Q5TGL8	CF145_HUMAN	M	187	ENSP00000369636:V187M	ENSP00000369636:V187M	V	-	1	0	C6orf145	3672803	0.298000	0.24417	0.102000	0.21198	0.250000	0.25880	2.172000	0.42463	0.635000	0.30488	-0.205000	0.12727	GTG		0.428	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		10	34	0	0	0	1	0	10	34				
TYMS	7298	broad.mit.edu	37	18	670815	670815	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:670815T>A	ENST00000323274.10	+	5	819	c.680T>A	c.(679-681)aTc>aAc	p.I227N	TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I193N	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CCTTTCAACATCGCCAGCTAC	0.592																																						ENST00000323274.10																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(679-681)aTc>aAc		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						167.0	130.0	142.0					18																	670815		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670815T>A	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.680T>A	18.37:g.670815T>A	ENSP00000315644:p.Ile227Asn					TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I193N	p.I227N	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	819	+			227					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.680T>A	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980825	0.74474	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	6.09	4.92	0.64577	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044989	0.85682	D	0.000000	D	0.88247	0.6385	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.983;0.999	D	0.91263	0.5038	9	0.87932	D	0	-1.555	12.3381	0.55079	0.0:0.0659:0.0:0.9341	.	144;193;227	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	N	227;193;144	.	ENSP00000314727:I193N	I	+	2	0	TYMS	660815	1.000000	0.71417	0.916000	0.36221	0.993000	0.82548	7.871000	0.87180	1.110000	0.41699	0.533000	0.62120	ATC		0.592	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		38	31	0	0	0	1	0	38	31				
RAD54B	25788	broad.mit.edu	37	8	95423537	95423537	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr8:95423537G>A	ENST00000336148.5	-	4	435	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	104					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTAGGAGCCGAATGAACTAC	0.308								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(310-312)tCg>tTg	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							55.0	55.0	55.0					8																	95423537		2202	4299	6501	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95423537G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.311C>T	8.37:g.95423537G>A	ENSP00000336606:p.Ser104Leu						p.S104L	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		4	435	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.311C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783485	0.16189	.	.	ENSG00000197275	ENST00000336148;ENST00000523839	D;T	0.88818	-2.43;1.41	5.32	-2.05	0.07321	.	1.763510	0.02925	N	0.138429	T	0.80984	0.4729	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.63849	-0.6544	10	0.22706	T	0.39	-24.7176	6.3534	0.21389	0.5523:0.0:0.3258:0.122	.	104	Q9Y620	RA54B_HUMAN	L	104	ENSP00000336606:S104L;ENSP00000428554:S104L	ENSP00000336606:S104L	S	-	2	0	RAD54B	95492713	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.082000	0.14847	-0.221000	0.09973	-1.641000	0.00772	TCG		0.308	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		3	36	0	0	0	1	0	3	36				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	51	0	0	0	1	0	3	51				
GIGYF2	26058	broad.mit.edu	37	2	233655742	233655742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:233655742G>T	ENST00000409547.1	+	13	1266	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	319					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCCTATTCCAGAAGAGCAGGA	0.448																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1021-1023)Gaa>Taa		GRB10 interacting GYF protein 2							63.0	67.0	66.0					2																	233655742		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233655742G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.955G>T	2.37:g.233655742G>T	ENSP00000386537:p.Glu319*					GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319*	p.E341*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	12	1218	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	319					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.1021G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219984	0.95139	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000424414;ENST00000452341;ENST00000427649;ENST00000410033	.	.	.	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.8738	14.0221	0.64563	0.0728:0.0:0.9272:0.0	.	.	.	.	X	341;262;319;341;319;319;262;313;341;313;71;150;71;101	.	ENSP00000362664:E319X	E	+	1	0	GIGYF2	233363986	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.512000	0.98008	1.271000	0.44313	-0.136000	0.14681	GAA		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		11	20	1	0	6.40141e-05	1	6.65747e-05	11	20				
STRC	161497	broad.mit.edu	37	15	43901532	43901532	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43901532C>A	ENST00000450892.2	-	16	3576	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	STRC_ENST00000541030.1_Splice_Site_p.A394S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1167					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAAACTGTGCCTACAAGAGA	0.522																																						ENST00000450892.2																			0				skin(4)	4						c.e16-1		stereocilin							86.0	99.0	95.0					15																	43901532		2167	4297	6464	SO:0001630	splice_region_variant	161497				sensory perception of sound	cell surface		g.chr15:43901532C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3499-1G>T	15.37:g.43901532C>A						STRC_ENST00000541030.1_Splice_Site_p.A394_splice	p.A1167_splice	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	16	3576	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1167						Splice_Site	SNP	ENST00000450892.2	37	c.3498_splice	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780514	0.49891	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	D;D	0.83591	-1.74;-1.53	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000014	D	0.84110	0.5400	L	0.27053	0.805	0.37268	D	0.907265	P;D	0.67145	0.782;0.996	B;D	0.75484	0.223;0.986	D	0.85099	0.0956	10	0.35671	T	0.21	-8.9126	12.748	0.57291	0.0:1.0:0.0:0.0	.	394;1167	F5GXA4;Q7RTU9	.;STRC_HUMAN	S	1167;1167;394	ENSP00000401513:A1167S;ENSP00000440413:A394S	ENSP00000299992:A1167S	A	-	1	0	STRC	41688824	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.172000	0.31908	2.061000	0.61500	0.556000	0.70494	GCA		0.522	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700	Missense_Mutation	4	68	1	0	1	1	1	4	68				
ZNF286A	57335	broad.mit.edu	37	17	15619875	15619875	+	Silent	SNP	T	T	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr17:15619875T>G	ENST00000464847.2	+	5	1390	c.837T>G	c.(835-837)tcT>tcG	p.S279S	ZNF286A_ENST00000593105.1_Silent_p.S269S|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.S279S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S279S|ZNF286A_ENST00000413242.2_Silent_p.S279S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	279					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)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GTGGGAAATCTTTTAGCCACA	0.408																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(835-837)tcT>tcG		zinc finger protein 286A							42.0	44.0	43.0					17																	15619875		2200	4295	6495	SO:0001819	synonymous_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619875T>G	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.837T>G	17.37:g.15619875T>G						ZNF286A_ENST00000413242.2_Silent_p.S279S|ZNF286A_ENST00000593105.1_Silent_p.S269S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S279S|ZNF286A_ENST00000421016.1_Silent_p.S279S|ZNF286A_ENST00000395894.2_3'UTR	p.S279S			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1390	+			279					B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	c.837T>G	CCDS11172.1																																																																																				0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		21	36	0	0	0	1	0	21	36				
SLC23A2	9962	broad.mit.edu	37	20	4880337	4880337	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:4880337C>T	ENST00000379333.1	-	6	738	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	116					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGATCGTGCCGCTGAAGCAT	0.522																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(346-348)Ggc>Agc		solute carrier family 23 (ascorbic acid transporter), member 2							133.0	113.0	120.0					20																	4880337		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4880337C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.346G>A	20.37:g.4880337C>T	ENSP00000368637:p.Gly116Ser					SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	p.G116S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			6	738	-			116					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.346G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571848	0.86542	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.15139	2.45;2.45;2.45	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	L	0.46670	1.46	0.43896	D	0.996527	P;D;D	0.89917	0.695;1.0;1.0	P;D;D	0.97110	0.69;1.0;1.0	T	0.01643	-1.1305	10	0.26408	T	0.33	-16.3418	17.4072	0.87477	0.0:1.0:0.0:0.0	.	116;116;116	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	S	116	ENSP00000368637:G116S;ENSP00000344322:G116S;ENSP00000406601:G116S	ENSP00000344322:G116S	G	-	1	0	SLC23A2	4828337	1.000000	0.71417	0.986000	0.45419	0.608000	0.37181	7.805000	0.86005	2.417000	0.82017	0.563000	0.77884	GGC		0.522	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			35	39	0	0	0	1	0	35	39				
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1141-1143)Gcg>Acg		mannosidase, alpha, class 2B, member 1							64.0	68.0	67.0					19																	12769127		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12769127C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1141G>A	19.37:g.12769127C>T	ENSP00000395473:p.Ala381Thr					MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	p.A381T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			9	1181	-			381					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1141G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398417	0.96030	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80738	-1.41;-1.41	5.33	5.33	0.75918	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.42294	D	0.000730	D	0.90222	0.6943	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.81914	0.995;0.877	D	0.91550	0.5256	10	0.87932	D	0	-8.818	16.5676	0.84602	0.0:1.0:0.0:0.0	.	380;381	G5E928;O00754	.;MA2B1_HUMAN	T	381;320;380	ENSP00000395473:A381T;ENSP00000221363:A380T	ENSP00000221363:A380T	A	-	1	0	MAN2B1	12630127	1.000000	0.71417	0.786000	0.31890	0.817000	0.46193	5.660000	0.68018	2.503000	0.84419	0.460000	0.39030	GCG		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			21	45	0	0	0	1	0	21	45				
ATF7IP	55729	broad.mit.edu	37	12	14589075	14589075	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589075G>A	ENST00000540793.1	+	3	1836	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D569N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	561	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAATCAGAAGACATGGACAA	0.353																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1705-1707)Gac>Aac		activating transcription factor 7 interacting protein							99.0	97.0	98.0					12																	14589075		2203	4299	6502	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589075G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1681G>A	12.37:g.14589075G>A	ENSP00000444589:p.Asp561Asn					ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR	p.D569N			Q6VMQ6	MCAF1_HUMAN			4	2025	+			561			Glu-rich.|Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1705G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336185	0.95758	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.23950	1.92;1.88;1.92;1.92;1.92	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000013	T	0.50411	0.1614	L	0.56769	1.78	0.51233	D	0.999912	D;D;D;D;D;D	0.89917	1.0;1.0;0.978;0.978;1.0;1.0	D;D;P;P;D;D	0.91635	0.998;0.999;0.851;0.851;0.999;0.999	T	0.48139	-0.9061	10	0.87932	D	0	-18.6408	19.2901	0.94095	0.0:0.0:1.0:0.0	.	569;560;560;561;560;172	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	N	561;560;560;569;561	ENSP00000261168:D561N;ENSP00000443179:D560N;ENSP00000445955:D560N;ENSP00000440440:D569N;ENSP00000444589:D561N	ENSP00000261168:D561N	D	+	1	0	ATF7IP	14480342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.442000	0.73443	2.728000	0.93425	0.585000	0.79938	GAC		0.353	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		71	31	0	0	0	1	0	71	31				
ZNF609	23060	broad.mit.edu	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	rs200890644		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18089	0.0		0.0	False		,,,				2504	0.001					ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		zinc finger protein 609		G	ILE/VAL	0,4406		0,0,2203	85.0	70.0	75.0		1477	5.6	1.0	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966530G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile					ZNF609_ENST00000559364.1_3'UTR	p.V493I	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1605	+			493					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1477G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		17	20	0	0	0	1	0	17	20				
FANCB	2187	broad.mit.edu	37	X	14863074	14863074	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chrX:14863074T>C	ENST00000324138.3	-	7	1984	c.1831A>G	c.(1831-1833)Aaa>Gaa	p.K611E	FANCB_ENST00000398334.1_Missense_Mutation_p.K611E	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	611					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAACGATCTTTAGGACAGTTA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1831-1833)Aaa>Gaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							149.0	150.0	150.0					X																	14863074		2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863074T>C	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1831A>G	X.37:g.14863074T>C	ENSP00000326819:p.Lys611Glu					FANCB_ENST00000324138.3_Missense_Mutation_p.K611E	p.K611E	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			8	2098	-	Hepatocellular(33;0.183)		611					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.1831A>G	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.851919	0.00066	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	2.73	0.32206	.	0.736172	0.13513	N	0.382316	T	0.08088	0.0202	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36335	-0.9752	9	0.02654	T	1	0.1547	1.8489	0.03165	0.1405:0.4718:0.1342:0.2536	.	611	Q8NB91	FANCB_HUMAN	E	611	.	ENSP00000326819:K611E	K	-	1	0	FANCB	14772995	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.120000	0.15647	0.128000	0.18479	-1.318000	0.01297	AAA		0.353	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		74	12	0	0	0	1	0	74	12				
KRT79	338785	broad.mit.edu	37	12	53217008	53217008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:53217008G>A	ENST00000330553.5	-	7	1193	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	387	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGCCGTCTGCAGCTGCTGA	0.597																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1159-1161)Cag>Tag		keratin 79							52.0	48.0	49.0					12																	53217008		2203	4300	6503	SO:0001587	stop_gained	338785					keratin filament	structural molecule activity	g.chr12:53217008G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1159C>T	12.37:g.53217008G>A	ENSP00000328358:p.Gln387*						p.Q387*	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			7	1193	-			387			Coil 2.|Rod.		Q6P465|Q7Z793	Nonsense_Mutation	SNP	ENST00000330553.5	37	c.1159C>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740237	0.96873	.	.	ENSG00000185640	ENST00000330553	.	.	.	4.01	4.01	0.46588	.	0.000000	0.39615	N	0.001304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.8713	0.63622	0.0:0.1543:0.8457:0.0	.	.	.	.	X	387	.	ENSP00000328358:Q387X	Q	-	1	0	KRT79	51503275	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.821000	0.48065	2.523000	0.85059	0.555000	0.69702	CAG		0.597	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		6	12	0	0	0	1	0	6	12				
SRCAP	10847	broad.mit.edu	37	16	30724642	30724642	+	Silent	SNP	G	G	A	rs138153762		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30724642G>A	ENST00000262518.4	+	15	2629	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.A748A|SRCAP_ENST00000344771.4_Silent_p.A748A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.A748A(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGATGAGGCGCAGAACATCA	0.522																																						ENST00000262518.4																			1	Substitution - coding silent(1)	p.A748A(1)	large_intestine(1)	NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2242-2244)gcG>gcA		Snf2-related CREBBP activator protein		G		1,4393	2.1+/-5.4	0,1,2196	124.0	110.0	115.0		2244	-1.2	1.0	16	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	SRCAP	NM_006662.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		748/3231	30724642	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724642G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2244G>A	16.37:g.30724642G>A						SRCAP_ENST00000344771.4_Silent_p.A748A|SRCAP_ENST00000395059.2_Silent_p.A748A	p.A748A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2629	+			748			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.2244G>A	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		3	73	0	0	0	1	0	3	73				
SLC27A4	10999	broad.mit.edu	37	9	131112789	131112789	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:131112789A>G	ENST00000300456.4	+	6	929	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	271					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCCCTGGTGTACTATGGATTC	0.617																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(811-813)tAc>tGc		solute carrier family 27 (fatty acid transporter), member 4							75.0	58.0	64.0					9																	131112789		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112789A>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.812A>G	9.37:g.131112789A>G	ENSP00000300456:p.Tyr271Cys					SLC27A4_ENST00000372870.1_Intron	p.Y271C	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			6	929	+			271					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.812A>G	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660374	0.47572	.	.	ENSG00000167114	ENST00000300456	T	0.40476	1.03	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.070349	0.64402	D	0.000014	T	0.58366	0.2117	M	0.72624	2.21	0.53005	D	0.999964	D	0.71674	0.998	D	0.67231	0.95	T	0.58463	-0.7632	10	0.39692	T	0.17	-26.9282	9.868	0.41157	0.8371:0.0:0.0:0.1629	.	271	Q6P1M0	S27A4_HUMAN	C	271	ENSP00000300456:Y271C	ENSP00000300456:Y271C	Y	+	2	0	SLC27A4	130152610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.555000	0.67301	2.132000	0.65825	0.460000	0.39030	TAC		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			10	16	0	0	0	1	0	10	16				
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:321439C>A	ENST00000397770.3	-	11	725	c.708G>T	c.(706-708)gcG>gcT	p.A236A	RGS11_ENST00000359740.5_Silent_p.A225A|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.A215A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(706-708)gcG>gcT		regulator of G-protein signaling 11							80.0	75.0	77.0					16																	321439		2203	4300	6503	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321439C>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.708G>T	16.37:g.321439C>A						ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A	p.A236A			O94810	RGS11_HUMAN			11	725	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	236			G protein gamma.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.708G>T	CCDS42088.1																																																																																				0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			12	16	1	0	4.3838e-07	1	4.9556e-07	12	16				
OR5AN1	390195	broad.mit.edu	37	11	59132469	59132469	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:59132469T>G	ENST00000313940.2	+	1	585	c.538T>G	c.(538-540)Tgt>Ggt	p.C180G		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACATTTCTTCTGTGACATGCC	0.438																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(538-540)Tgt>Ggt		olfactory receptor, family 5, subfamily AN, member 1							155.0	142.0	146.0					11																	59132469		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132469T>G	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.538T>G	11.37:g.59132469T>G	ENSP00000320302:p.Cys180Gly						p.C180G	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	585	+			180					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.538T>G	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953256	0.53293	.	.	ENSG00000176495	ENST00000313940	T	0.62788	0.0	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	D	0.85923	0.5810	H	0.98487	4.245	0.37171	D	0.903066	D	0.89917	1.0	D	0.91635	0.999	D	0.91807	0.5456	10	0.87932	D	0	-32.0251	11.9691	0.53053	0.0:0.0:0.0:1.0	.	180	Q8NGI8	O5AN1_HUMAN	G	180	ENSP00000320302:C180G	ENSP00000320302:C180G	C	+	1	0	OR5AN1	58889045	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.430000	0.59907	1.743000	0.51761	0.533000	0.62120	TGT		0.438	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		4	180	0	0	0	1	0	4	180				
SMIM21	284274	broad.mit.edu	37	18	73122856	73122856	+	Missense_Mutation	SNP	C	C	T	rs148196575		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:73122856C>T	ENST00000579022.1	-	3	408	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SMIM21_ENST00000382638.3_Silent_p.T46T|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	90						integral component of membrane (GO:0016021)											TGACTTCAAACGTAGAAAGCT	0.343																																						ENST00000579022.1																			0											c.(268-270)cGt>cAt		small integral membrane protein 21		C	HIS/ARG	0,4406		0,0,2203	118.0	114.0	115.0		269	-7.4	0.0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	C18orf62	NM_001037331.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	90/102	73122856	1,13005	2203	4300	6503	SO:0001583	missense	284274							g.chr18:73122856C>T		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.269G>A	18.37:g.73122856C>T	ENSP00000462106:p.Arg90His					RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Silent_p.T46T	p.R90H	NM_001037331.2	NP_001032408.1					3	408	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.269G>A	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998094	0.19043	0.0	1.16E-4	ENSG00000206026	ENST00000382638	.	.	.	3.68	-7.37	0.01412	.	.	.	.	.	T	0.22126	0.0533	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19679	-1.0298	8	0.87932	D	0	.	1.9774	0.03418	0.1378:0.4046:0.2394:0.2182	.	90	Q3B7S5	CR062_HUMAN	H	90	.	ENSP00000372083:R90H	R	-	2	0	C18orf62	71251844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-0.140000	0.11394	-0.457000	0.05445	CGT		0.343	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		3	21	0	0	0	1	0	3	21				
SPINK4	27290	broad.mit.edu	37	9	33221060	33221060	+	Silent	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:33221060G>C	ENST00000379725.1	+	2	206	c.84G>C	c.(82-84)tcG>tcC	p.S28S	SPINK4_ENST00000379723.1_Silent_p.S28S			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0					response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGATGCTTCGCACACAGACC	0.517																																						ENST00000379725.1																			0				lung(1)	1						c.(82-84)tcG>tcC		serine peptidase inhibitor, Kazal type 4							60.0	55.0	57.0					9																	33221060		876	1991	2867	SO:0001819	synonymous_variant	27290					extracellular region	serine-type endopeptidase inhibitor activity	g.chr9:33221060G>C	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379725.1:c.84G>C	9.37:g.33221060G>C						SPINK4_ENST00000379723.1_Silent_p.S28S	p.S28S			O60575	ISK4_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		2	206	+			0					Q2YDT7	Silent	SNP	ENST00000379725.1	37	c.84G>C																																																																																					0.517	SPINK4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052036.1	NM_014471		4	18	0	0	0	1	0	4	18				
ITGA1	3672	broad.mit.edu	37	5	52211329	52211329	+	Missense_Mutation	SNP	A	A	T	rs199962878		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr5:52211329A>T	ENST00000282588.6	+	15	2351	c.1893A>T	c.(1891-1893)aaA>aaT	p.K631N		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGACACTGAAATTTTTTGGCC	0.423																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1891-1893)aaA>aaT		integrin, alpha 1							172.0	172.0	172.0					5																	52211329		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211329A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1893A>T	5.37:g.52211329A>T	ENSP00000282588:p.Lys631Asn						p.K631N	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			15	2351	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	631					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1893A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087949	0.76642	.	.	ENSG00000213949	ENST00000282588	T	0.55760	0.5	5.53	-0.868	0.10652	.	0.045906	0.85682	D	0.000000	T	0.43919	0.1269	L	0.45352	1.415	0.51767	D	0.999931	P	0.48640	0.913	P	0.45037	0.467	T	0.40421	-0.9564	10	0.62326	D	0.03	.	9.7755	0.40616	0.6306:0.0:0.3694:0.0	.	631	P56199	ITA1_HUMAN	N	631	ENSP00000282588:K631N	ENSP00000282588:K631N	K	+	3	2	ITGA1	52247086	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.821000	0.27338	-0.079000	0.12707	0.528000	0.53228	AAA		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		9	91	0	0	0	1	0	9	91				
ITGAL	3683	broad.mit.edu	37	16	30500700	30500700	+	Silent	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30500700C>A	ENST00000356798.6	+	11	1386	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	402					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGAGAGCAGGCTATTTGGGTG	0.488																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1204-1206)ggC>ggA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						144.0	135.0	138.0					16																	30500700		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30500700C>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1206C>A	16.37:g.30500700C>A						ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.G319G	p.G402G	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			11	1386	+			402					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1206C>A	CCDS32433.1																																																																																				0.488	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	31	1	0	1.06961e-07	1	1.236e-07	7	31				
STAU1	6780	broad.mit.edu	37	20	47734393	47734393	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:47734393G>C	ENST00000371856.2	-	11	1840	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C	STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C|STAU1_ENST00000371828.3_Missense_Mutation_p.S402C	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	477					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTGGCCTGAAGAGATGTTATT	0.547																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1204-1206)tCt>tGt		staufen double-stranded RNA binding protein 1							115.0	107.0	110.0					20																	47734393		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734393G>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1430C>G	20.37:g.47734393G>C	ENSP00000360922:p.Ser477Cys					STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C	p.S402C	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1692	-			477					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1205C>G	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799448	0.70567	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.62	5.62	0.85841	.	0.257134	0.45867	D	0.000330	T	0.44498	0.1296	L	0.54323	1.7	0.50813	D	0.999896	P;P	0.42203	0.773;0.74	P;B	0.44359	0.447;0.353	T	0.35871	-0.9771	10	0.54805	T	0.06	-7.6167	19.6778	0.95943	0.0:0.0:1.0:0.0	.	477;402	O95793;Q5JW29	STAU1_HUMAN;.	C	402;396;477;396;396;396;402;394	ENSP00000360893:S402C;ENSP00000345425:S396C;ENSP00000360922:S477C;ENSP00000353604:S396C;ENSP00000323443:S396C;ENSP00000360867:S402C;ENSP00000360857:S394C	ENSP00000345425:S396C	S	-	2	0	STAU1	47167800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.054000	0.57434	2.645000	0.89757	0.650000	0.86243	TCT		0.547	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		3	67	0	0	0	1	0	3	67				
TRBV5-7	28608	broad.mit.edu	37	7	142111577	142111577	+	RNA	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:142111577C>T	ENST00000390378.1	-	0	158									T cell receptor beta variable 5-7 (non-functional)																		CCTGTTGGTACGAGGACACAC	0.517																																						ENST00000390378.1																			0																				116.0	108.0	111.0					7																	142111577		1893	4118	6011			0							g.chr7:142111577C>T	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111577C>T														0	158	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.517	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		8	63	0	0	0	1	0	8	63				
OBSCN	84033	broad.mit.edu	37	1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:228481946C>T	ENST00000422127.1	+	42	11269	c.11225C>T	c.(11224-11226)cCg>cTg	p.P3742L	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.P4171L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3742	Ig-like 38.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGGCACCGGTGGAGTGG	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12511-12513)cCg>cTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							144.0	150.0	148.0					1																	228481946		2130	4231	6361	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481946C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11225C>T	1.37:g.228481946C>T	ENSP00000409493:p.Pro3742Leu					OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L	p.P4171L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			47	12586	+		Prostate(94;0.0405)	3214			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12512C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771689	0.69992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186371	0.34906	N	0.003596	T	0.76800	0.4038	M	0.67625	2.065	0.58432	D	0.999993	D;D	0.69078	0.992;0.997	P;P	0.61477	0.889;0.802	T	0.78339	-0.2242	10	0.56958	D	0.05	.	13.1804	0.59651	0.1595:0.8405:0.0:0.0	.	3742;3742	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	3742;3742;861;861;2589	ENSP00000284548:P3742L;ENSP00000409493:P3742L;ENSP00000355668:P861L;ENSP00000355670:P861L;ENSP00000352613:P2589L	ENSP00000284548:P3742L	P	+	2	0	OBSCN	226548569	0.003000	0.15002	0.940000	0.37924	0.122000	0.20287	1.390000	0.34464	2.531000	0.85337	0.508000	0.49915	CCG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		71	92	0	0	0	1	0	71	92				
POMC	5443	broad.mit.edu	37	2	25383999	25383999	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:25383999G>A	ENST00000405623.1	-	3	1210	c.755C>T	c.(754-756)aCg>aTg	p.T252M	POMC_ENST00000264708.3_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M|POMC_ENST00000380794.1_Missense_Mutation_p.T252M|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	252					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.T252M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTTGAACAGCGTCACCAGGGG	0.642																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			1	Substitution - Missense(1)	p.T252M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(754-756)aCg>aTg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						45.0	46.0	46.0					2																	25383999		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25383999G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.755C>T	2.37:g.25383999G>A	ENSP00000384092:p.Thr252Met					POMC_ENST00000380794.1_Missense_Mutation_p.T252M|POMC_ENST00000264708.3_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M	p.T252M			P01189	COLI_HUMAN			3	1210	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		252					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.755C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835222	0.71373	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.15	5.15	0.70609	Opiodes neuropeptide (1);	0.051216	0.85682	D	0.000000	D	0.89719	0.6796	M	0.80332	2.49	0.58432	D	0.999998	D	0.76494	0.999	D	0.68483	0.958	D	0.91189	0.4982	10	0.87932	D	0	-15.7643	17.2122	0.86934	0.0:0.0:1.0:0.0	.	252	P01189	COLI_HUMAN	M	252	ENSP00000370171:T252M;ENSP00000384092:T252M;ENSP00000264708:T252M;ENSP00000379170:T252M	ENSP00000264708:T252M	T	-	2	0	POMC	25237503	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.019000	0.57181	2.409000	0.81822	0.561000	0.74099	ACG		0.642	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		10	46	0	0	0	1	0	10	46				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	52	0	0	0	1	0	3	52				
MTOR	2475	broad.mit.edu	37	1	11189830	11189830	+	Silent	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:11189830G>C	ENST00000361445.4	-	40	5755	c.5679C>G	c.(5677-5679)tcC>tcG	p.S1893S	MTOR_ENST00000376838.1_Silent_p.S98S|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1893	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTCGTGACAAGGAGATGGAAC	0.522																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5677-5679)tcC>tcG		mechanistic target of rapamycin (serine/threonine kinase)							176.0	138.0	151.0					1																	11189830		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11189830G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5679C>G	1.37:g.11189830G>C						MTOR_ENST00000376838.1_Silent_p.S98S	p.S1893S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			40	5755	-			1893			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5679C>G	CCDS127.1																																																																																				0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		7	15	0	0	0	1	0	7	15				
GLB1	2720	broad.mit.edu	37	3	33038803	33038803	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr3:33038803G>A	ENST00000399402.3	-	16	1809	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	GLB1_ENST00000307377.8_Missense_Mutation_p.R459C|GLB1_ENST00000307363.5_Missense_Mutation_p.R590C|GLB1_ENST00000445488.2_Missense_Mutation_p.R638C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	590					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGCCAATAGCGGCCAAGGTTA	0.592																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM064027	GLB1	M		c.(1768-1770)Cgc>Tgc		galactosidase, beta 1							34.0	36.0	36.0					3																	33038803		1913	4118	6031	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33038803G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1678C>T	3.37:g.33038803G>A	ENSP00000382333:p.Arg560Cys					GLB1_ENST00000307377.8_Missense_Mutation_p.R459C|GLB1_ENST00000445488.2_Missense_Mutation_p.R638C|GLB1_ENST00000399402.3_Missense_Mutation_p.R560C	p.R590C	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			16	1912	-		Melanoma(143;0.104)	590		R -> C (in GM1G1).|R -> H (in GM1G2).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1768C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178198	0.94846	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.31	5.31	0.75309	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98356	1.0546	10	0.87932	D	0	-16.2636	18.6222	0.91324	0.0:0.0:1.0:0.0	.	590;459;590;638	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	560;590;638;459	ENSP00000382333:R560C;ENSP00000306920:R590C;ENSP00000393377:R638C;ENSP00000305920:R459C	ENSP00000306920:R590C	R	-	1	0	GLB1	33013807	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	7.637000	0.83313	2.496000	0.84212	0.456000	0.33151	CGC		0.592	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		14	21	0	0	0	1	0	14	21				
KIAA1549L	25758	broad.mit.edu	37	11	33689492	33689492	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:33689492G>A	ENST00000321505.4	+	20	5522	c.5342G>A	c.(5341-5343)cGt>cAt	p.R1781H	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1781						integral component of membrane (GO:0016021)		p.R1781H(1)									AGGCTTCCTCGTCAGTACAGC	0.682																																						ENST00000321505.4																			1	Substitution - Missense(1)	p.R1781H(1)	lung(1)								c.(5341-5343)cGt>cAt		KIAA1549-like							26.0	33.0	31.0					11																	33689492		2040	4190	6230	SO:0001583	missense	25758							g.chr11:33689492G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5342G>A	11.37:g.33689492G>A	ENSP00000315295:p.Arg1781His					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA	p.R1781H							20	5522	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5342G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453960	0.84209	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	5.67	0.87782	.	0.092202	0.45867	D	0.000338	T	0.58466	0.2124	N	0.19112	0.55	0.33925	D	0.641378	D	0.89917	1.0	D	0.79108	0.992	T	0.57808	-0.7747	9	0.14252	T	0.57	-12.5025	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1787	E9PAT2	.	H	1781;1787;1620	.	ENSP00000315295:R1781H	R	+	2	0	C11orf41	33646068	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	7.166000	0.77553	2.686000	0.91538	0.561000	0.74099	CGT		0.682	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		18	21	0	0	0	1	0	18	21				
SIRT1	23411	broad.mit.edu	37	10	69666644	69666644	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr10:69666644T>A	ENST00000212015.6	+	5	1093	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	347	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCCAGAACATAGACACGCTG	0.388																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1039-1041)aTa>aAa		sirtuin 1							91.0	93.0	92.0					10																	69666644		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69666644T>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1040T>A	10.37:g.69666644T>A	ENSP00000212015:p.Ile347Lys					SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K	p.I347K	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			5	1093	+			347			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1040T>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695195	0.88830	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83496	0.0072	10	0.87932	D	0	-12.8205	14.726	0.69343	0.0:0.0:0.0:1.0	.	44;347	B0QZ35;Q96EB6	.;SIRT1_HUMAN	K	347;52;44;44	ENSP00000212015:I347K;ENSP00000409208:I52K;ENSP00000384508:I44K;ENSP00000384063:I44K	ENSP00000212015:I347K	I	+	2	0	SIRT1	69336650	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.637000	0.83313	1.950000	0.56595	0.477000	0.44152	ATA		0.388	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			13	21	0	0	0	1	0	13	21				
ATF7IP	55729	broad.mit.edu	37	12	14589162	14589162	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589162G>C	ENST00000540793.1	+	3	1923	c.1768G>C	c.(1768-1770)Gac>Cac	p.D590H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D598H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	590	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGGAGACATTAACCA	0.323																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1792-1794)Gac>Cac		activating transcription factor 7 interacting protein							121.0	130.0	127.0					12																	14589162		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589162G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1768G>C	12.37:g.14589162G>C	ENSP00000444589:p.Asp590His					ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR	p.D598H			Q6VMQ6	MCAF1_HUMAN			4	2112	+			590			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1792G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780826	0.70222	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000545723;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.26518	1.85;1.73;1.85;1.85;1.85	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.47619	0.1455	M	0.61703	1.905	0.48762	D	0.999706	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.79108	0.992;0.992;0.964;0.964;0.987;0.992	T	0.41448	-0.9508	10	0.72032	D	0.01	-21.0056	13.6215	0.62140	0.0757:0.0:0.9243:0.0	.	598;589;589;590;589;201	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	H	590;29;97;589;589;598;590	ENSP00000261168:D590H;ENSP00000443179:D589H;ENSP00000445955:D589H;ENSP00000440440:D598H;ENSP00000444589:D590H	ENSP00000261168:D590H	D	+	1	0	ATF7IP	14480429	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.792000	0.62467	2.728000	0.93425	0.585000	0.79938	GAC		0.323	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		101	59	0	0	0	1	0	101	59				
OR4C11	219429	broad.mit.edu	37	11	55371422	55371422	+	Missense_Mutation	SNP	A	A	T	rs564428873		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:55371422A>T	ENST00000302231.4	-	1	452	c.428T>A	c.(427-429)aTt>aAt	p.I143N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGCAAGAACAATCAGGATGAT	0.453																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(427-429)aTt>aAt		olfactory receptor, family 4, subfamily C, member 11							83.0	69.0	74.0					11																	55371422		2176	4011	6187	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371422A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.428T>A	11.37:g.55371422A>T	ENSP00000306651:p.Ile143Asn						p.I143N	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	452	-			143					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.428T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	8.960	0.970290	0.18659	.	.	ENSG00000172188	ENST00000302231	T	0.45276	0.9	4.24	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.259655	0.27056	U	0.021146	T	0.59335	0.2186	M	0.81497	2.545	0.09310	N	1	D	0.64830	0.994	D	0.67382	0.951	T	0.51028	-0.8757	10	0.87932	D	0	.	6.4009	0.21638	0.8862:0.0:0.1138:0.0	.	143	Q6IEV9	OR4CB_HUMAN	N	143	ENSP00000306651:I143N	ENSP00000306651:I143N	I	-	2	0	OR4C11	55127998	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.701000	0.25616	0.791000	0.33826	0.391000	0.25812	ATT		0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		4	52	0	0	0	1	0	4	52				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	45	0	0	0	1	0	3	45				
LYST	1130	broad.mit.edu	37	1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5152-5154)Cga>Tga		lysosomal trafficking regulator							35.0	38.0	37.0					1																	235944227		2202	4300	6502	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944227G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*					LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR	p.R1718*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5326	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1718					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5152C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	56	0	0	0	1	0	3	56				
DGKD	8527	broad.mit.edu	37	2	234368918	234368918	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:234368918C>T	ENST00000264057.2	+	24	2920	c.2908C>T	c.(2908-2910)Ccg>Tcg	p.P970S	DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	970					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCCTGCACCCGGAGATGCT	0.617																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2908-2910)Ccg>Tcg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						88.0	80.0	83.0					2																	234368918		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368918C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2908C>T	2.37:g.234368918C>T	ENSP00000264057:p.Pro970Ser					DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	p.P970S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	24	2920	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	970					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2908C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.900109	0.02472	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79749	-1.14;-1.3	4.93	4.04	0.47022	.	0.220274	0.38217	N	0.001763	T	0.72859	0.3513	L	0.50919	1.6	0.38418	D	0.946115	B;B	0.25772	0.134;0.029	B;B	0.17098	0.017;0.017	T	0.69312	-0.5178	10	0.08837	T	0.75	.	15.7429	0.77914	0.0:0.863:0.137:0.0	.	926;970	Q16760-2;Q16760	.;DGKD_HUMAN	S	970;926	ENSP00000264057:P970S;ENSP00000386455:P926S	ENSP00000264057:P970S	P	+	1	0	DGKD	234033657	1.000000	0.71417	0.950000	0.38849	0.080000	0.17528	3.913000	0.56394	1.425000	0.47237	0.563000	0.77884	CCG		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		11	18	0	0	0	1	0	11	18				
CD83	9308	broad.mit.edu	37	6	14131839	14131839	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:14131839C>A	ENST00000379153.3	+	3	413	c.242C>A	c.(241-243)tCt>tAt	p.S81Y		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	81	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CAAAATGGTTCTTTCGACGCC	0.547																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(241-243)tCt>tAt		CD83 molecule							128.0	118.0	121.0					6																	14131839		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131839C>A	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.242C>A	6.37:g.14131839C>A	ENSP00000368450:p.Ser81Tyr						p.S81Y	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			3	413	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	81			Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.242C>A	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419834	0.62622	.	.	ENSG00000112149	ENST00000379153	T	0.67345	-0.26	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.580155	0.17684	N	0.165503	T	0.73892	0.3645	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.68250	-0.5458	10	0.87932	D	0	0.8164	15.0038	0.71495	0.0:1.0:0.0:0.0	.	81	Q01151	CD83_HUMAN	Y	81	ENSP00000368450:S81Y	ENSP00000368450:S81Y	S	+	2	0	CD83	14239818	0.050000	0.20438	0.009000	0.14445	0.006000	0.05464	2.352000	0.44080	2.696000	0.92011	0.655000	0.94253	TCT		0.547	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			16	31	1	0	3.45872e-05	1	3.74694e-05	16	31				
ANK2	287	broad.mit.edu	37	4	114280141	114280141	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr4:114280141G>A	ENST00000357077.4	+	38	10420	c.10367G>A	c.(10366-10368)gGc>gAc	p.G3456D	ANK2_ENST00000264366.6_Missense_Mutation_p.G3423D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3456					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGGGGGGGCACGAGCCCC	0.438																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10366-10368)gGc>gAc		ankyrin 2, neuronal							50.0	56.0	54.0					4																	114280141		2201	4297	6498	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280141G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367G>A	4.37:g.114280141G>A	ENSP00000349588:p.Gly3456Asp					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G3423D	p.G3456D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10420	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3423					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10367G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	g	0.070	-1.203807	0.01581	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95788	-0.15;-0.17;-3.81	5.48	-1.63	0.08345	.	0.745082	0.12057	N	0.503481	D	0.87589	0.6215	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.77507	-0.2562	10	0.52906	T	0.07	.	4.639	0.12540	0.156:0.5392:0.1458:0.159	.	3423;3456	Q01484;Q01484-4	ANK2_HUMAN;.	D	3456;3423;466	ENSP00000349588:G3456D;ENSP00000264366:G3423D;ENSP00000422498:G466D	ENSP00000264366:G3423D	G	+	2	0	ANK2	114499590	0.038000	0.19896	0.000000	0.03702	0.129000	0.20672	0.796000	0.26986	-0.143000	0.11334	-0.127000	0.14921	GGC		0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	26	0	0	0	1	0	9	26				
SIK2	23235	broad.mit.edu	37	11	111558815	111558815	+	Missense_Mutation	SNP	G	G	A	rs200775925		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:111558815G>A	ENST00000304987.3	+	4	580	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TGTCATGGTCGGAAGATTGTG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18252	0.001		0.0	False		,,,				2504	0.0					ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(406-408)cGg>cAg		salt-inducible kinase 2							119.0	110.0	113.0					11																	111558815		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111558815G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.407G>A	11.37:g.111558815G>A	ENSP00000305976:p.Arg136Gln						p.R136Q	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			4	580	+			136			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.407G>A	CCDS8347.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.3	4.814996	0.90790	.	.	ENSG00000170145	ENST00000304987	T	0.64438	-0.1	5.77	3.91	0.45181	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	N	0.17082	0.46	0.58432	D	0.999997	P	0.42584	0.784	B	0.38458	0.274	T	0.51911	-0.8645	10	0.66056	D	0.02	.	11.7516	0.51852	0.1436:0.0:0.8564:0.0	.	136	Q9H0K1	SIK2_HUMAN	Q	136	ENSP00000305976:R136Q	ENSP00000305976:R136Q	R	+	2	0	SIK2	111064025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.345000	0.72995	1.448000	0.47680	0.655000	0.94253	CGG		0.423	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		27	42	0	0	0	1	0	27	42				
NLRP13	126204	broad.mit.edu	37	19	56421986	56421986	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56421986G>A	ENST00000342929.3	-	6	2224	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	NLRP13_ENST00000588751.1_Missense_Mutation_p.S742F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	742							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCTTCACAGAGGAAGCATG	0.468																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2224-2226)tCt>tTt		NLR family, pyrin domain containing 13							173.0	152.0	159.0					19																	56421986		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56421986G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2225C>T	19.37:g.56421986G>A	ENSP00000343891:p.Ser742Phe					NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F	p.S742F			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2249	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	742					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2225C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989524	0.18966	.	.	ENSG00000173572	ENST00000342929	T	0.54675	0.56	2.96	1.78	0.24846	.	.	.	.	.	T	0.34890	0.0913	L	0.31476	0.935	0.09310	N	1	B	0.33266	0.404	B	0.28638	0.092	T	0.15122	-1.0448	9	0.37606	T	0.19	.	7.2145	0.25951	0.0:0.2795:0.7205:0.0	.	742	Q86W25	NAL13_HUMAN	F	742	ENSP00000343891:S742F	ENSP00000343891:S742F	S	-	2	0	NLRP13	61113798	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	-0.000000	0.12993	1.661000	0.50771	0.543000	0.68304	TCT		0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		8	111	0	0	0	1	0	8	111				
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs34075690|rs148192373	byFrequency	TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													?|GGGGGG|GGGGG|unsure	2948	0.588658	0.5439	0.6398	5008	,	,		18076	0.5258		0.6143	False		,,,				2504	0.6513					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720687delG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720687delG										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1233	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	10						6	10	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		2	4						2	4	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			2	4						2	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		2	4						2	4	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			2	4						2	4	---	---	---	---
