#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
TINAGL1	64129	broad.mit.edu	37	1	32050623	32050623	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:32050623C>T	ENST00000271064.7	+	7	919	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TINAGL1_ENST00000457433.2_Silent_p.F250F|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	281					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGGTGGTTCCTGCGTCGCC	0.637																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(841-843)ttC>ttT		tubulointerstitial nephritis antigen-like 1							76.0	77.0	76.0					1																	32050623		2203	4300	6503	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050623C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.843C>T	1.37:g.32050623C>T						TINAGL1_ENST00000457433.2_Silent_p.F250F|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR	p.F281F	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	7	919	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	281					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.843C>T	CCDS343.1																																																																																				0.637	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		20	73	0	0	0	1	0	20	73				
ABCA13	154664	broad.mit.edu	37	7	48428731	48428731	+	Silent	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428731T>A	ENST00000435803.1	+	37	11592	c.11568T>A	c.(11566-11568)gcT>gcA	p.A3856A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3856	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCACAAGGCTGTGGTCCAAG	0.552																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11566-11568)gcT>gcA		ATP-binding cassette, sub-family A (ABC1), member 13							70.0	72.0	71.0					7																	48428731		1914	4146	6060	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428731T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11568T>A	7.37:g.48428731T>A							p.A3856A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11592	+			3856			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11568T>A	CCDS47584.1																																																																																				0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		41	54	0	0	0	1	0	41	54				
BPI	671	broad.mit.edu	37	20	36952275	36952275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:36952275G>T	ENST00000262865.4	+	8	861	c.772G>T	c.(772-774)Gag>Tag	p.E258*	BPI_ENST00000489102.1_Intron|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	258					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCCCAGGGGGAGTTTTACAG	0.498																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(772-774)Gag>Tag		bactericidal/permeability-increasing protein							109.0	90.0	97.0					20																	36952275		2203	4300	6503	SO:0001587	stop_gained	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952275G>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.772G>T	20.37:g.36952275G>T	ENSP00000262865:p.Glu258*					CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	p.E258*	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	861	+		Myeloproliferative disorder(115;0.00878)	258					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Nonsense_Mutation	SNP	ENST00000262865.4	37	c.772G>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477534	0.63849	.	.	ENSG00000101425	ENST00000262865	.	.	.	4.46	2.29	0.28610	.	0.171726	0.39083	N	0.001469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-28.7274	12.4664	0.55762	0.0:0.3203:0.6797:0.0	.	.	.	.	X	258	.	ENSP00000262865:E258X	E	+	1	0	BPI	36385689	0.995000	0.38212	0.558000	0.28319	0.082000	0.17680	2.432000	0.44784	1.205000	0.43262	0.650000	0.86243	GAG		0.498	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		5	51	1	0	0.000602214	1	0.000633363	5	51				
CEP104	9731	broad.mit.edu	37	1	3756209	3756209	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:3756209G>A	ENST00000378230.3	-	7	1022	c.698C>T	c.(697-699)gCc>gTc	p.A233V	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	233						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TAGTTTCTTGGCATAATCATA	0.353																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(697-699)gCc>gTc		centrosomal protein 104kDa							185.0	178.0	180.0					1																	3756209		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756209G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.698C>T	1.37:g.3756209G>A	ENSP00000367476:p.Ala233Val						p.A233V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			7	1022	-			233					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.698C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158519	0.94686	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.61274	0.12	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.85511	0.1197	10	0.87932	D	0	.	17.204	0.86913	0.0:0.0:1.0:0.0	.	233;233	O60308-3;O60308	.;CE104_HUMAN	V	233;175	ENSP00000367476:A233V	ENSP00000367476:A233V	A	-	2	0	CEP104	3746069	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.259000	0.95561	2.298000	0.77334	0.491000	0.48974	GCC		0.353	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		34	64	0	0	0	1	0	34	64				
PCDHA4	56144	broad.mit.edu	37	5	140187069	140187069	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr5:140187069C>T	ENST00000530339.1	+	1	297	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHA4_ENST00000512229.2_Silent_p.S99S|PCDHA4_ENST00000356878.4_Silent_p.S99S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCGGAGCGCGGAGTGCA	0.592																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(295-297)agC>agT									71.0	79.0	76.0					5																	140187069		2202	4290	6492	SO:0001819	synonymous_variant	0							g.chr5:140187069C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.297C>T	5.37:g.140187069C>T						PCDHA4_ENST00000356878.4_Silent_p.S99S|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S99S	p.S99S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	297	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.297C>T	CCDS54916.1																																																																																				0.592	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	141	0	0	0	1	0	8	141				
CFAP46	54777	broad.mit.edu	37	10	134660767	134660767	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:134660767G>T	ENST00000368586.5	-	42	6111	c.6011C>A	c.(6010-6012)gCc>gAc	p.A2004D	TTC40_ENST00000263170.5_Missense_Mutation_p.A165D	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGACTTTGTGGCACCCTCTTC	0.657																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6010-6012)gCc>gAc		tetratricopeptide repeat domain 40							75.0	83.0	80.0					10																	134660767		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134660767G>T																												ENST00000368586.5:c.6011C>A	10.37:g.134660767G>T	ENSP00000357575:p.Ala2004Asp					TTC40_ENST00000263170.5_Missense_Mutation_p.A165D	p.A2004D	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			42	6111	-			165						Missense_Mutation	SNP	ENST00000368586.5	37	c.6011C>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	1.220	-0.627067	0.03610	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12361	2.91;2.69	3.57	-7.15	0.01521	.	2.349990	0.02776	U	0.120249	T	0.03390	0.0098	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31779	-0.9931	10	0.12430	T	0.62	.	0.867	0.01206	0.2594:0.1574:0.3852:0.198	.	165	Q8IYW2	CJ092_HUMAN	D	2004;165	ENSP00000357575:A2004D;ENSP00000263170:A165D	ENSP00000263170:A165D	A	-	2	0	C10orf93	134510757	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.212000	0.01225	-1.605000	0.01593	-0.339000	0.08088	GCC		0.657	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			24	121	1	0	1.85244e-09	1	2.13205e-09	24	121				
ZNF99	7652	broad.mit.edu	37	19	22939830	22939830	+	IGR	SNP	T	T	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:22939830T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.E834G|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGCCACATTCTTCACATTT	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2500-2502)gAa>gGa		zinc finger protein 99							74.0	82.0	79.0					19																	22939830		2076	4226	6302	SO:0001628	intergenic_variant	7652							g.chr19:22939830T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939830T>C							p.E834G							6	2500	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2501A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	13.17	2.157564	0.38119	.	.	ENSG00000213973	ENST00000397104	T	0.35789	1.29	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45875	0.1364	L	0.43923	1.385	0.21105	N	0.999784	D	0.89917	1.0	D	0.80764	0.994	T	0.20009	-1.0288	9	0.72032	D	0.01	.	5.732	0.18045	0.0:0.0:0.0:1.0	.	834	A8MXY4	ZNF99_HUMAN	G	834	ENSP00000380293:E834G	ENSP00000380293:E834G	E	-	2	0	ZNF99	22731670	0.000000	0.05858	0.472000	0.27241	0.315000	0.28087	-0.251000	0.08818	0.491000	0.27793	0.145000	0.16022	GAA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	55	0	0	0	1	0	10	55				
UNC13D	201294	broad.mit.edu	37	17	73836863	73836863	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:73836863C>T	ENST00000207549.4	-	8	1042	c.663G>A	c.(661-663)acG>acA	p.T221T	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.T221T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATGCAGATCCGTGAGCTCCC	0.592									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(661-663)acG>acA		unc-13 homolog D (C. elegans)							143.0	134.0	137.0					17																	73836863		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836863C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.663G>A	17.37:g.73836863C>T						UNC13D_ENST00000412096.2_Silent_p.T221T|UNC13D_ENST00000587504.1_5'UTR	p.T221T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1042	-			221			C2 1.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.663G>A	CCDS11730.1																																																																																				0.592	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		45	138	0	0	0	1	0	45	138				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862829	10862829	+	RNA	SNP	A	A	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr21:10862829A>T	ENST00000559480.1	+	0	125							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCTCCTGCAAGGCTTCTGGA	0.587																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															188.0	180.0	183.0					21																	10862829		2029	4184	6213			0							g.chr21:10862829A>T			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862829A>T														0	125	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.587	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		48	326	0	0	0	1	0	48	326				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	42	0	0	0	1	0	3	42				
COL11A1	1301	broad.mit.edu	37	1	103488378	103488378	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:103488378A>G	ENST00000370096.3	-	8	1477	c.1165T>C	c.(1165-1167)Tat>Cat	p.Y389H	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Y350H|COL11A1_ENST00000358392.2_Missense_Mutation_p.Y401H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	389	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTATCTTCATATTCTTTATAT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1201-1203)Tat>Cat		collagen, type XI, alpha 1							76.0	77.0	76.0					1																	103488378		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488378A>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1165T>C	1.37:g.103488378A>G	ENSP00000359114:p.Tyr389His					COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Y350H|COL11A1_ENST00000370096.3_Missense_Mutation_p.Y389H	p.Y401H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1518	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	389			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1201T>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	8.929	0.963078	0.18583	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88586	-2.4;-0.52;-2.37;-0.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.83012	2.62	0.52501	D	0.999952	P;P;B	0.35656	0.514;0.514;0.38	B;B;B	0.41236	0.351;0.351;0.191	D	0.85147	0.0984	10	0.15952	T	0.53	.	13.641	0.62251	1.0:0.0:0.0:0.0	.	350;401;389	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	H	389;401;350;401	ENSP00000359114:Y389H;ENSP00000351163:Y401H;ENSP00000302551:Y350H;ENSP00000408640:Y401H	ENSP00000302551:Y350H	Y	-	1	0	COL11A1	103260966	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	6.241000	0.72369	1.951000	0.56629	0.523000	0.50628	TAT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	65	0	0	0	1	0	5	65				
MCM3	4172	broad.mit.edu	37	6	52148178	52148178	+	Silent	SNP	T	T	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:52148178T>C	ENST00000229854.7	-	2	181	c.105A>G	c.(103-105)aaA>aaG	p.K35K	MCM3_ENST00000596288.1_Silent_p.K80K|MCM3_ENST00000419835.2_Intron			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	35					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTCCCGAACTTTGCTCTGAT	0.448																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(238-240)aaA>aaG		minichromosome maintenance complex component 3							202.0	175.0	184.0					6																	52148178		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148178T>C	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.105A>G	6.37:g.52148178T>C						MCM3_ENST00000419835.2_Intron|MCM3_ENST00000229854.7_Silent_p.K35K	p.K80K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	267	-	Lung NSC(77;0.0931)		35					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.240A>G																																																																																					0.448	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	79	0	0	0	1	0	5	79				
PLEKHH2	130271	broad.mit.edu	37	2	43937680	43937680	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:43937680G>A	ENST00000282406.4	+	14	2377	c.2267G>A	c.(2266-2268)aGt>aAt	p.S756N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	756	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATCCTGTAGTATTTTAAGA	0.299																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2266-2268)aGt>aAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							76.0	78.0	77.0					2																	43937680		2201	4300	6501	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937680G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2267G>A	2.37:g.43937680G>A	ENSP00000282406:p.Ser756Asn						p.S756N	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			14	2377	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	756			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2267G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761841	0.31228	.	.	ENSG00000152527	ENST00000282406	T	0.76316	-1.01	4.97	1.65	0.23941	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418902	0.29342	N	0.012440	T	0.59662	0.2210	N	0.20445	0.575	0.25093	N	0.990841	B;B;B	0.12013	0.003;0.0;0.005	B;B;B	0.15484	0.009;0.001;0.013	T	0.47235	-0.9133	10	0.30854	T	0.27	-7.2964	8.7845	0.34811	0.3659:0.0:0.6341:0.0	.	756;193;756	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	N	756	ENSP00000282406:S756N	ENSP00000282406:S756N	S	+	2	0	PLEKHH2	43791184	0.942000	0.31987	0.999000	0.59377	0.989000	0.77384	1.405000	0.34635	0.499000	0.27970	0.563000	0.77884	AGT		0.299	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		5	57	0	0	0	1	0	5	57				
ZNF536	9745	broad.mit.edu	37	19	30935519	30935519	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:30935519C>T	ENST00000355537.3	+	2	1197	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	350					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGGTGTGCGGTCAGGTGT	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1048-1050)tgC>tgT		zinc finger protein 536							100.0	110.0	107.0					19																	30935519		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935519C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1050C>T	19.37:g.30935519C>T							p.C350C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1197	+	Esophageal squamous(110;0.0834)		350					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1050C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	210	0	0	0	1	0	10	210				
WDR66	144406	broad.mit.edu	37	12	122441613	122441613	+	Silent	SNP	C	C	T	rs202063312		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:122441613C>T	ENST00000288912.4	+	22	4247	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1131							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGAAATATTCGCGACTGAAA	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3391-3393)ttC>ttT		WD repeat domain 66							122.0	112.0	115.0					12																	122441613		1863	4105	5968	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122441613C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3393C>T	12.37:g.122441613C>T							p.F1131F	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	22	4247	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1131					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.3393C>T	CCDS41853.1																																																																																				0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		19	31	0	0	0	1	0	19	31				
ZNF337	26152	broad.mit.edu	37	20	25666234	25666234	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:25666234T>G	ENST00000376436.1	-	3	758	c.219A>C	c.(217-219)gaA>gaC	p.E73D	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.E73D			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(217-219)gaA>gaC		zinc finger protein 337							149.0	153.0	151.0					20																	25666234		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666234T>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.219A>C	20.37:g.25666234T>G	ENSP00000365619:p.Glu73Asp					ZNF337_ENST00000252979.5_Missense_Mutation_p.E73D|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron	p.E73D							3	758	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.219A>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	1.783	-0.481511	0.04383	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.05855	3.38;3.38	1.85	-1.21	0.09524	Krueppel-associated box (1);	.	.	.	.	T	0.04048	0.0113	L	0.48260	1.515	0.09310	N	1	B	0.31931	0.347	B	0.18561	0.022	T	0.45366	-0.9266	9	0.13470	T	0.59	.	3.6961	0.08365	0.0:0.1681:0.4688:0.3631	.	73	Q9Y3M9	ZN337_HUMAN	D	73	ENSP00000365619:E73D;ENSP00000252979:E73D	ENSP00000252979:E73D	E	-	3	2	ZNF337	25614234	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.178000	0.09782	-0.714000	0.04975	-0.662000	0.03851	GAA		0.572	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			86	142	0	0	0	1	0	86	142				
ABCA13	154664	broad.mit.edu	37	7	48428693	48428693	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428693C>T	ENST00000435803.1	+	37	11554	c.11530C>T	c.(11530-11532)Ctg>Ttg	p.L3844L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3844	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAGTCACCCTGGTGTCTGT	0.517																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11530-11532)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							75.0	77.0	76.0					7																	48428693		1905	4132	6037	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428693C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11530C>T	7.37:g.48428693C>T							p.L3844L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11554	+			3844			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11530C>T	CCDS47584.1																																																																																				0.517	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	58	0	0	0	1	0	42	58				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	47	0	0	0	1	0	3	47				
TRPC1	7220	broad.mit.edu	37	3	142499733	142499733	+	Silent	SNP	A	A	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:142499733A>C	ENST00000476941.1	+	6	1308	c.822A>C	c.(820-822)gcA>gcC	p.A274A	TRPC1_ENST00000273482.6_Silent_p.A240A	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	274					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTTACTTGCACAAGCCCGGA	0.378																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(718-720)gcA>gcC		transient receptor potential cation channel, subfamily C, member 1							91.0	89.0	90.0					3																	142499733		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499733A>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.822A>C	3.37:g.142499733A>C						TRPC1_ENST00000476941.1_Silent_p.A274A	p.A240A	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			5	1111	+			274					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.720A>C	CCDS58856.1																																																																																				0.378	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		4	55	0	0	0	1	0	4	55				
OASL	8638	broad.mit.edu	37	12	121471396	121471396	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:121471396C>T	ENST00000257570.5	-	2	619	c.349G>A	c.(349-351)Gac>Aac	p.D117N	OASL_ENST00000339275.5_Missense_Mutation_p.D117N	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	117					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGCAGGTCCTGGCTTTGC	0.582																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(349-351)Gac>Aac		2'-5'-oligoadenylate synthetase-like							120.0	107.0	112.0					12																	121471396		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471396C>T	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.349G>A	12.37:g.121471396C>T	ENSP00000257570:p.Asp117Asn					OASL_ENST00000339275.5_Missense_Mutation_p.D117N	p.D117N	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			2	619	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.349G>A	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242498	0.22796	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.07327	3.2;3.2	4.66	2.83	0.33086	.	3.887370	0.00616	N	0.000425	T	0.10252	0.0251	L	0.47716	1.5	0.09310	N	1	B;B	0.28082	0.2;0.03	B;B	0.20577	0.03;0.02	T	0.25537	-1.0129	10	0.49607	T	0.09	-14.1758	6.7491	0.23477	0.0:0.7932:0.0:0.2068	.	117;117	Q15646-2;Q15646	.;OASL_HUMAN	N	117	ENSP00000257570:D117N;ENSP00000341125:D117N	ENSP00000257570:D117N	D	-	1	0	OASL	119955779	0.012000	0.17670	0.530000	0.27963	0.041000	0.13682	0.043000	0.13971	1.326000	0.45319	-0.226000	0.12346	GAC		0.582	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		7	124	0	0	0	1	0	7	124				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	7	56	0	0	0	1	0	7	56				
FAM161A	84140	broad.mit.edu	37	2	62066623	62066623	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:62066623G>T	ENST00000405894.3	-	3	1617	c.1516C>A	c.(1516-1518)Cct>Act	p.P506T	FAM161A_ENST00000404929.1_Missense_Mutation_p.P506T	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	506					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAGGCACAGGGTTTACACCT	0.473																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1516-1518)Cct>Act		family with sequence similarity 161, member A							130.0	130.0	130.0					2																	62066623		1964	4168	6132	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62066623G>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1516C>A	2.37:g.62066623G>T	ENSP00000385893:p.Pro506Thr					FAM161A_ENST00000405894.3_Missense_Mutation_p.P506T	p.P506T	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1527	-			506					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1516C>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	6.567	0.473009	0.12461	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23348	2.7;1.91	5.58	1.11	0.20524	.	0.710309	0.14320	N	0.327100	T	0.24547	0.0595	M	0.73598	2.24	0.09310	N	1	B;B	0.25772	0.134;0.11	B;B	0.30029	0.11;0.037	T	0.27806	-1.0063	10	0.22109	T	0.4	-2.663	3.6662	0.08257	0.1552:0.2373:0.4864:0.121	.	506;506	Q3B820;Q3B820-3	F161A_HUMAN;.	T	506	ENSP00000385158:P506T;ENSP00000385893:P506T	ENSP00000385158:P506T	P	-	1	0	FAM161A	61920127	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.013000	0.13310	0.279000	0.22186	0.643000	0.83706	CCT		0.473	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		10	71	1	0	2.80697e-09	1	3.17084e-09	10	71				
DPPA2	151871	broad.mit.edu	37	3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(433-435)cGa>cAa		developmental pluripotency associated 2							140.0	120.0	126.0					3																	109027103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027103C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.434G>A	3.37:g.109027103C>T	ENSP00000417710:p.Arg145Gln						p.R145Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	680	-			145					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.434G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375697	0.11409	.	.	ENSG00000163530	ENST00000478945	T	0.47869	0.83	3.89	6.22E-6	0.14040	.	1.830180	0.02677	N	0.109176	T	0.22475	0.0542	N	0.04508	-0.205	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.08391	-1.0724	10	0.22706	T	0.39	0.3328	1.0189	0.01513	0.2142:0.1891:0.4201:0.1766	.	145	Q7Z7J5	DPPA2_HUMAN	Q	145	ENSP00000417710:R145Q	ENSP00000417710:R145Q	R	-	2	0	DPPA2	110509793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.023000	0.13963	-0.321000	0.08615	CGA		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		19	38	0	0	0	1	0	19	38				
KIAA0586	9786	broad.mit.edu	37	14	58917402	58917402	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:58917402A>G	ENST00000556134.1	+	9	1296	c.1022A>G	c.(1021-1023)gAa>gGa	p.E341G	KIAA0586_ENST00000261244.5_Missense_Mutation_p.E356G|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.E409G|KIAA0586_ENST00000423743.3_Missense_Mutation_p.E312G	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	341					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGATGATGAACTATCAAAG	0.378																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(934-936)gAa>gGa		KIAA0586							44.0	45.0	45.0					14																	58917402		1817	4093	5910	SO:0001583	missense	9786							g.chr14:58917402A>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1022A>G	14.37:g.58917402A>G	ENSP00000452351:p.Glu341Gly					KIAA0586_ENST00000354386.6_Missense_Mutation_p.E409G|KIAA0586_ENST00000556134.1_Missense_Mutation_p.E341G|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E356G	p.E312G	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			9	1193	+			356					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.935A>G	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.316031	0.23908	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.66	4.53	0.55603	.	0.587264	0.17319	N	0.178588	T	0.25754	0.0627	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.33549	0.002;0.002;0.004;0.417;0.002;0.004	B;B;B;B;B;B	0.30495	0.004;0.004;0.006;0.116;0.004;0.004	T	0.18650	-1.0330	10	0.59425	D	0.04	.	10.7992	0.46478	0.9252:0.0:0.0747:0.0	.	216;216;409;356;341;312	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	G	409;341;312;356;216	ENSP00000346359:E409G;ENSP00000452351:E341G;ENSP00000399427:E312G;ENSP00000261244:E356G	ENSP00000261244:E356G	E	+	2	0	KIAA0586	57987155	0.998000	0.40836	0.016000	0.15963	0.274000	0.26718	3.594000	0.54008	2.148000	0.66965	0.460000	0.39030	GAA		0.378	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		4	17	0	0	0	1	0	4	17				
GPATCH4	54865	broad.mit.edu	37	1	156565530	156565530	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:156565530C>G	ENST00000438976.2	-	8	633	c.603G>C	c.(601-603)caG>caC	p.Q201H	GPATCH4_ENST00000368232.4_Missense_Mutation_p.Q196H|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	196							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTCTGACTGCAGTTGAG	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(586-588)caG>caC		G patch domain containing 4							48.0	53.0	51.0					1																	156565530		2201	4299	6500	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565530C>G	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.603G>C	1.37:g.156565530C>G	ENSP00000396441:p.Gln201His					GPATCH4_ENST00000438976.2_Missense_Mutation_p.Q201H|GPATCH4_ENST00000497287.1_5'UTR	p.Q196H	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	720	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		196					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.588G>C	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789505	0.31685	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.44482	0.92;0.92;0.92	5.69	1.21	0.21127	.	0.646775	0.15632	N	0.252351	T	0.19927	0.0479	N	0.17082	0.46	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.58577	0.841;0.841	T	0.04053	-1.0981	10	0.41790	T	0.15	-25.5605	5.6613	0.17670	0.0:0.5167:0.139:0.3443	.	201;196	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	H	196;196;201;167	ENSP00000357215:Q196H;ENSP00000396441:Q201H;ENSP00000412620:Q167H	ENSP00000357212:Q196H	Q	-	3	2	GPATCH4	154832154	0.000000	0.05858	0.017000	0.16124	0.469000	0.32828	0.586000	0.23894	0.354000	0.24105	-0.136000	0.14681	CAG		0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		29	47	0	0	0	1	0	29	47				
MAGEA4	4103	broad.mit.edu	37	X	151092295	151092295	+	Silent	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:151092295A>G	ENST00000360243.2	+	3	426	c.159A>G	c.(157-159)gaA>gaG	p.E53E	MAGEA4_ENST00000393920.1_Silent_p.E53E|MAGEA4_ENST00000276344.2_Silent_p.E53E|MAGEA4_ENST00000370340.3_Silent_p.E53E|MAGEA4_ENST00000393921.1_Silent_p.E53E|MAGEA4_ENST00000370335.1_Silent_p.E53E|MAGEA4_ENST00000370337.4_Silent_p.E53E	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	53				E -> K (in Ref. 3; BAA06841). {ECO:0000305}.						breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGAGGAAGTGCCTGCTG	0.622																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(157-159)gaA>gaG		melanoma antigen family A, 4							68.0	64.0	65.0					X																	151092295		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092295A>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.159A>G	X.37:g.151092295A>G						MAGEA4_ENST00000370337.4_Silent_p.E53E|MAGEA4_ENST00000393920.1_Silent_p.E53E|MAGEA4_ENST00000276344.2_Silent_p.E53E|MAGEA4_ENST00000360243.2_Silent_p.E53E|MAGEA4_ENST00000370335.1_Silent_p.E53E|MAGEA4_ENST00000393921.1_Silent_p.E53E	p.E53E			P43358	MAGA4_HUMAN			3	426	+	Acute lymphoblastic leukemia(192;6.56e-05)		53	E -> K (in Ref. 3; BAA06841).				Q14798	Silent	SNP	ENST00000360243.2	37	c.159A>G	CCDS14702.1																																																																																				0.622	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		34	44	0	0	0	1	0	34	44				
TUBGCP6	85378	broad.mit.edu	37	22	50682160	50682160	+	Silent	SNP	C	C	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr22:50682160C>A	ENST00000248846.5	-	1	833	c.729G>T	c.(727-729)ggG>ggT	p.G243G	HDAC10_ENST00000498366.1_5'Flank|MAPK12_ENST00000497036.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.G243G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	243					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAATAGCCAGCCCAGAGAGGT	0.527																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(727-729)ggG>ggT		tubulin, gamma complex associated protein 6							44.0	49.0	47.0					22																	50682160		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682160C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.729G>T	22.37:g.50682160C>A						TUBGCP6_ENST00000248846.5_Silent_p.G243G	p.G243G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1221	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	243					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.729G>T	CCDS14087.1																																																																																				0.527	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		8	52	1	0	0.307466	1	0.307466	8	52				
MYH1	4619	broad.mit.edu	37	17	10408221	10408221	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:10408221T>A	ENST00000226207.5	-	22	2691	c.2597A>T	c.(2596-2598)gAg>gTg	p.E866V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	866					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTAGCCAGCTCTTCTTTGGT	0.423																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2596-2598)gAg>gTg		myosin, heavy chain 1, skeletal muscle, adult							152.0	138.0	143.0					17																	10408221		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408221T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2597A>T	17.37:g.10408221T>A	ENSP00000226207:p.Glu866Val					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E866V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			22	2691	-			866					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2597A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	4.175	0.030950	0.08101	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.48	-11.0	0.00169	.	1.310930	0.05617	U	0.579130	T	0.79003	0.4373	L	0.53249	1.67	0.09310	N	1	B	0.17268	0.021	B	0.23852	0.049	T	0.61983	-0.6950	10	0.40728	T	0.16	.	19.1922	0.93671	0.0:0.0823:0.0756:0.8421	.	866	P12882	MYH1_HUMAN	V	866	ENSP00000226207:E866V	ENSP00000226207:E866V	E	-	2	0	MYH1	10348946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.086000	0.00298	-2.403000	0.00577	-1.140000	0.01884	GAG		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		5	111	0	0	0	1	0	5	111				
ABCC4	10257	broad.mit.edu	37	13	95899954	95899954	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr13:95899954T>G	ENST00000376887.4	-	2	242	c.128A>C	c.(127-129)gAt>gCt	p.D43A	ABCC4_ENST00000412704.1_Missense_Mutation_p.D43A|ABCC4_ENST00000536256.1_Missense_Mutation_p.D43A|ABCC4_ENST00000431522.1_Missense_Mutation_p.D43A|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	43					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGAATACATATCATCTTCCTC	0.458																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(127-129)gAt>gCt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						180.0	147.0	158.0					13																	95899954		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95899954T>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.128A>C	13.37:g.95899954T>G	ENSP00000366084:p.Asp43Ala					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.D43A|ABCC4_ENST00000431522.1_Missense_Mutation_p.D43A|ABCC4_ENST00000412704.1_Missense_Mutation_p.D43A	p.D43A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			2	242	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		43					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.128A>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733759	0.89482	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.988;0.991;0.988;0.979	D	0.98655	1.0681	10	0.87932	D	0	.	15.5531	0.76170	0.0:0.0:0.0:1.0	.	43;43;43;43;43	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	A	43	ENSP00000388657:D43A;ENSP00000366084:D43A;ENSP00000442024:D43A;ENSP00000398562:D43A	ENSP00000366084:D43A	D	-	2	0	ABCC4	94697955	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.224000	0.78042	2.140000	0.66376	0.455000	0.32223	GAT		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		21	47	0	0	0	1	0	21	47				
ADRA2A	150	broad.mit.edu	37	10	112837941	112837941	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:112837941G>A	ENST00000280155.2	+	1	1152	c.187G>A	c.(187-189)Gtg>Atg	p.V63M		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	48					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTGCTCACCGTGTTCGGCAA	0.697																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(187-189)Gtg>Atg		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						40.0	36.0	37.0					10																	112837941		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112837941G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.187G>A	10.37:g.112837941G>A	ENSP00000280155:p.Val63Met						p.V63M	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1152	+		Breast(234;0.0735)|Lung NSC(174;0.238)	48					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.187G>A	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589512	0.66105	.	.	ENSG00000150594	ENST00000280155	T	0.41758	0.99	4.8	4.8	0.61643	.	0.651816	0.14536	U	0.313591	T	0.41305	0.1153	N	0.19112	0.55	0.44194	D	0.997016	D	0.71674	0.998	P	0.56648	0.803	T	0.32851	-0.9891	10	0.87932	D	0	.	8.8631	0.35269	0.1671:0.0:0.8329:0.0	.	48	P08913	ADA2A_HUMAN	M	63	ENSP00000280155:V63M	ENSP00000280155:V63M	V	+	1	0	ADRA2A	112827931	1.000000	0.71417	0.319000	0.25293	0.990000	0.78478	3.425000	0.52771	2.214000	0.71695	0.555000	0.69702	GTG		0.697	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		3	21	0	0	0	1	0	3	21				
MESP2	145873	broad.mit.edu	37	15	90320476	90320476	+	Silent	SNP	G	G	A	rs374172103		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:90320476G>A	ENST00000341735.3	+	1	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	296					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGGACGGCGGCCCCAGCAA	0.627																																						ENST00000341735.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(886-888)gcG>gcA		mesoderm posterior 2 homolog (mouse)		G		0,3718		0,0,1859	11.0	13.0	12.0		888	-4.4	0.0	15		12	1,8103		0,1,4051	no	coding-synonymous	MESP2	NM_001039958.1		0,1,5910	AA,AG,GG		0.0123,0.0,0.0085		296/398	90320476	1,11821	1859	4052	5911	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320476G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.888G>A	15.37:g.90320476G>A						MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.A296A	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	888	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		296					Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.888G>A	CCDS42078.1																																																																																				0.627	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	25	0	0	0	1	0	4	25				
DCHS2	54798	broad.mit.edu	37	4	155298459	155298459	+	Silent	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr4:155298459G>T	ENST00000357232.4	-	3	371	c.372C>A	c.(370-372)atC>atA	p.I124I	DCHS2_ENST00000339452.1_Silent_p.I730I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCCCTGTCGATATCTTGAG	0.403																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(370-372)atC>atA		dachsous cadherin-related 2							137.0	126.0	130.0					4																	155298459		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298459G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.372C>A	4.37:g.155298459G>T						DCHS2_ENST00000339452.1_Silent_p.I730I	p.I124I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	371	-	all_hematologic(180;0.208)	Renal(120;0.0854)	124			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.372C>A	CCDS3785.1																																																																																				0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	88	1	0	0.00024832	1	0.000265746	4	88				
RORA	6095	broad.mit.edu	37	15	60919520	60919520	+	Intron	SNP	C	C	T	rs199986254		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:60919520C>T	ENST00000335670.6	-	2	297				RORA_ENST00000560004.1_Intron|RORA_ENST00000309157.4_Silent_p.P18P|RORA_ENST00000261523.5_Silent_p.P18P|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATTGACCACGGCACTCTTG	0.552																																						ENST00000261523.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(52-54)ccG>ccA		RAR-related orphan receptor A							221.0	177.0	192.0					15																	60919520		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60919520C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51335G>A	15.37:g.60919520C>T						RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Silent_p.P18P|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	p.P18P	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN			1	142	-			18		P -> S (in a colorectal cancer sample; somatic mutation).	Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	c.54G>A	CCDS10177.1																																																																																				0.552	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			41	68	0	0	0	1	0	41	68				
H6PD	9563	broad.mit.edu	37	1	9305364	9305364	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:9305364T>G	ENST00000377403.2	+	2	673	c.371T>G	c.(370-372)aTc>aGc	p.I124S	H6PD_ENST00000602477.1_Missense_Mutation_p.I135S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	124	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		AACAAGGACATCGAGGCACAG	0.587																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(370-372)aTc>aGc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						77.0	77.0	77.0					1																	9305364		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305364T>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.371T>G	1.37:g.9305364T>G	ENSP00000366620:p.Ile124Ser					H6PD_ENST00000602477.1_Missense_Mutation_p.I135S	p.I124S	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	673	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	124			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.371T>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968625	0.74131	.	.	ENSG00000049239	ENST00000377403	D	0.98381	-4.9	5.31	5.31	0.75309	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.053759	0.64402	D	0.000001	D	0.98833	0.9606	M	0.79693	2.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99835	1.1057	10	0.87932	D	0	-12.5237	14.7401	0.69448	0.0:0.0:0.0:1.0	.	124	O95479	G6PE_HUMAN	S	124	ENSP00000366620:I124S	ENSP00000366620:I124S	I	+	2	0	H6PD	9227951	1.000000	0.71417	0.930000	0.37139	0.647000	0.38526	7.571000	0.82399	2.134000	0.65973	0.482000	0.46254	ATC		0.587	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		4	112	0	0	0	1	0	4	112				
EML2	24139	broad.mit.edu	37	19	46119742	46119742	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:46119742C>A	ENST00000245925.3	-	15	1536	c.1486G>T	c.(1486-1488)Gtc>Ttc	p.V496F	EML2_ENST00000589876.1_Missense_Mutation_p.V496F|EML2_ENST00000536630.1_Missense_Mutation_p.V643F|EML2_ENST00000587152.1_Missense_Mutation_p.V697F	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	496	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGCGGCTGACCTTGCGGCCG	0.672																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1927-1929)Gtc>Ttc		echinoderm microtubule associated protein like 2							25.0	28.0	27.0					19																	46119742		2187	4274	6461	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46119742C>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1486G>T	19.37:g.46119742C>A	ENSP00000245925:p.Val496Phe					EML2_ENST00000587152.1_Missense_Mutation_p.V697F|EML2_ENST00000245925.3_Missense_Mutation_p.V496F|EML2_ENST00000589876.1_Missense_Mutation_p.V496F	p.V643F	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	18	2065	-		Ovarian(192;0.179)|all_neural(266;0.224)	496					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1927G>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480204	0.63849	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.28454	1.61;1.69	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.144296	0.46758	D	0.000268	T	0.10551	0.0258	N	0.01242	-0.935	0.36121	D	0.845463	B;B;B	0.30406	0.215;0.278;0.263	B;B;B	0.28553	0.091;0.034;0.064	T	0.23190	-1.0195	10	0.27082	T	0.32	-31.8758	10.1513	0.42796	0.199:0.801:0.0:0.0	.	662;643;496	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	F	643;496;654	ENSP00000442365:V643F;ENSP00000245925:V496F	ENSP00000245925:V496F	V	-	1	0	EML2	50811582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.194000	0.72082	2.421000	0.82119	0.561000	0.74099	GTC		0.672	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		29	49	1	0	8.53417e-09	1	9.46518e-09	29	49				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	57	0	0	0	1	0	4	57				
OR4D5	219875	broad.mit.edu	37	11	123811140	123811140	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:123811140G>A	ENST00000307033.2	+	1	891	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCCGTCTCTGTGCTATACAC	0.483																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(817-819)Gtg>Atg		olfactory receptor, family 4, subfamily D, member 5							154.0	128.0	136.0					11																	123811140		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811140G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.817G>A	11.37:g.123811140G>A	ENSP00000305970:p.Val273Met						p.V273M	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	891	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	273					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.817G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169740	0.57584	.	.	ENSG00000171014	ENST00000307033	T	0.00274	8.35	5.49	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000540	T	0.00637	0.0021	M	0.74546	2.27	0.32741	N	0.507618	P	0.49559	0.925	D	0.68943	0.961	T	0.56384	-0.7988	10	0.72032	D	0.01	-16.4868	14.0703	0.64856	0.0:0.2756:0.7244:0.0	.	273	Q8NGN0	OR4D5_HUMAN	M	273	ENSP00000305970:V273M	ENSP00000305970:V273M	V	+	1	0	OR4D5	123316350	0.482000	0.25948	1.000000	0.80357	0.842000	0.47809	1.531000	0.36018	2.571000	0.86741	0.650000	0.86243	GTG		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		53	85	0	0	0	1	0	53	85				
TLE1	7088	broad.mit.edu	37	9	84199168	84199168	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:84199168T>C	ENST00000376499.3	-	20	3322	c.2258A>G	c.(2257-2259)tAc>tGc	p.Y753C		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	753					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AGTGACTATGTACTTATCATC	0.418																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2257-2259)tAc>tGc		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							141.0	130.0	134.0					9																	84199168		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84199168T>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2258A>G	9.37:g.84199168T>C	ENSP00000365682:p.Tyr753Cys						p.Y753C	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			20	3322	-			753					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.2258A>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.198363	0.79015	.	.	ENSG00000196781	ENST00000376499	T	0.12569	2.67	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058829	0.64402	D	0.000001	T	0.34395	0.0896	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.04723	-1.0931	10	0.87932	D	0	-25.0624	15.415	0.74960	0.0:0.0:0.0:1.0	.	738;753	B4DEF9;Q04724	.;TLE1_HUMAN	C	753	ENSP00000365682:Y753C	ENSP00000365682:Y753C	Y	-	2	0	TLE1	83388988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.281000	0.76405	0.533000	0.62120	TAC		0.418	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		13	54	0	0	0	1	0	13	54				
B4GALNT3	283358	broad.mit.edu	37	12	667826	667826	+	Splice_Site	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:667826G>T	ENST00000266383.5	+	18	2773	c.2760G>T	c.(2758-2760)gaG>gaT	p.E920D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	920					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGTGGCCTGAGGGTGAGCCCT	0.567																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.e18+1		beta-1,4-N-acetyl-galactosaminyl transferase 3							67.0	58.0	61.0					12																	667826		2203	4299	6502	SO:0001630	splice_region_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667826G>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2761+1G>T	12.37:g.667826G>T							p.E920_splice	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2773	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		920					Q6ZNC1|Q8N7T6	Splice_Site	SNP	ENST00000266383.5	37	c.2761_splice	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175758	0.21704	.	.	ENSG00000139044	ENST00000266383	T	0.15718	2.4	4.69	1.78	0.24846	.	0.264166	0.42821	D	0.000657	T	0.08268	0.0206	N	0.17474	0.49	0.40068	D	0.975984	B	0.14805	0.011	B	0.24006	0.05	T	0.23976	-1.0173	10	0.11485	T	0.65	-30.0494	6.0156	0.19601	0.2473:0.0:0.5871:0.1655	.	920	Q6L9W6	B4GN3_HUMAN	D	920	ENSP00000266383:E920D	ENSP00000266383:E920D	E	+	3	2	B4GALNT3	538087	0.919000	0.31177	1.000000	0.80357	0.949000	0.60115	-0.050000	0.11904	0.498000	0.27948	0.455000	0.32223	GAG		0.567	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	Missense_Mutation	4	42	1	0	0.00116845	1	0.00118792	4	42				
DGKA	1606	broad.mit.edu	37	12	56335369	56335369	+	Splice_Site	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:56335369G>A	ENST00000331886.5	+	15	1704		c.e15+1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATAGGGTGAGCACAGG	0.473																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e15+1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						123.0	125.0	124.0					12																	56335369		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56335369G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1250+1G>A	12.37:g.56335369G>A						DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site		NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			15	1704	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770465	0.69992	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0786	0.89436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54621636	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.346000	0.90060	2.890000	0.99128	0.650000	0.86243	.		0.473	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	33	61	0	0	0	1	0	33	61				
GLB1L2	89944	broad.mit.edu	37	11	134240925	134240925	+	Silent	SNP	C	C	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:134240925C>T	ENST00000535456.2	+	13	1427	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	GLB1L2_ENST00000339772.7_Silent_p.I413I|GLB1L2_ENST00000389881.3_Silent_p.I413I|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	413					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AAAAGCCCATCAACATGGAGA	0.572																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1237-1239)atC>atT		galactosidase, beta 1-like 2							129.0	129.0	129.0					11																	134240925		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240925C>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1239C>T	11.37:g.134240925C>T						GLB1L2_ENST00000389881.3_Silent_p.I413I|GLB1L2_ENST00000339772.7_Silent_p.I413I|GLB1L2_ENST00000529077.1_3'UTR	p.I413I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1427	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	413					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1239C>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710546	0.03230	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.77	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3611	2.3091	0.04182	0.2721:0.4512:0.1319:0.1448	.	.	.	.	X	352	.	.	Q	+	1	0	GLB1L2	133746135	0.750000	0.28316	0.860000	0.33809	0.023000	0.10783	-0.230000	0.09083	0.416000	0.25844	-0.140000	0.14226	CAA		0.572	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		9	196	0	0	0	1	0	9	196				
FOXA1	3169	broad.mit.edu	37	14	38061192	38061192	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:38061192A>G	ENST00000250448.2	-	2	858	c.797T>C	c.(796-798)tTc>tCc	p.F266S	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)tTc>tCc		forkhead box A1							10.0	11.0	10.0					14																	38061192		2193	4281	6474	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061192A>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.797T>C	14.37:g.38061192A>G	ENSP00000250448:p.Phe266Ser					FOXA1_ENST00000540786.1_Missense_Mutation_p.F233S|FOXA1_ENST00000545425.2_5'UTR	p.F266S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	858	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.797T>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475185	0.84640	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93604	-3.24;-3.25	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93831	0.7128	10	0.66056	D	0.02	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	266	P55317	FOXA1_HUMAN	S	266;233	ENSP00000250448:F266S;ENSP00000440178:F233S	ENSP00000250448:F266S	F	-	2	0	FOXA1	37130943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.885000	0.92439	1.648000	0.50643	0.329000	0.21502	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	21	0	0	0	1	0	5	21				
BCAS1	8537	broad.mit.edu	37	20	52601966	52601966	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:52601966G>T	ENST00000395961.3	-	7	1166	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q379K|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q334K|BCAS1_ENST00000434986.2_Missense_Mutation_p.Q92K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	334						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCCCCTTGGGTCTCCTGG	0.502																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1000-1002)Caa>Aaa		breast carcinoma amplified sequence 1							199.0	189.0	193.0					20																	52601966		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52601966G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1000C>A	20.37:g.52601966G>T	ENSP00000379290:p.Gln334Lys					BCAS1_ENST00000371435.2_Missense_Mutation_p.Q334K|BCAS1_ENST00000434986.2_Missense_Mutation_p.Q92K|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q379K	p.Q334K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		7	1166	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		334					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1000C>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440483	0.43326	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	5.8	4.84	0.62591	.	0.891094	0.09735	N	0.762613	T	0.11665	0.0284	M	0.61703	1.905	0.80722	D	1	P;B;P;P;P;P	0.44776	0.573;0.264;0.573;0.843;0.459;0.459	B;B;B;B;B;B	0.42343	0.23;0.052;0.23;0.384;0.173;0.173	T	0.18116	-1.0347	10	0.07644	T	0.81	-0.0456	12.0494	0.53498	0.0:0.0:0.8167:0.1833	.	334;92;379;334;334;334	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	K	241;379;212;334;334;92	ENSP00000396361:Q241K;ENSP00000360495:Q379K;ENSP00000379290:Q334K;ENSP00000360490:Q334K;ENSP00000409956:Q92K	ENSP00000360490:Q334K	Q	-	1	0	BCAS1	52035373	0.995000	0.38212	0.939000	0.37840	0.742000	0.42306	3.616000	0.54174	1.418000	0.47098	0.655000	0.94253	CAA		0.502	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		89	157	1	0	5.60141e-34	1	6.57088e-34	89	157				
PHIP	55023	broad.mit.edu	37	6	79692791	79692791	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:79692791T>A	ENST00000275034.4	-	23	2748	c.2581A>T	c.(2581-2583)Att>Ttt	p.I861F	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	861					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCAGATTAATTCCTGCATCT	0.363																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2581-2583)Att>Ttt		pleckstrin homology domain interacting protein							106.0	108.0	108.0					6																	79692791		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79692791T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2581A>T	6.37:g.79692791T>A	ENSP00000275034:p.Ile861Phe						p.I861F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	23	2748	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	861					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2581A>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745577	0.89663	.	.	ENSG00000146247	ENST00000275034	T	0.55760	0.5	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.76170	2.325	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.67669	-0.5611	9	.	.	.	-16.9044	14.42	0.67177	0.0:0.0:0.0:1.0	.	861;861	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	861	ENSP00000275034:I861F	.	I	-	1	0	PHIP	79749510	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.694000	0.84235	2.002000	0.58637	0.383000	0.25322	ATT		0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	82	0	0	0	1	0	7	82				
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:24247038G>A	ENST00000406420.3	+	13	1403	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A463T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607																																						ENST00000338315.4																			1	Substitution - Missense(1)	p.A463T(1)	large_intestine(1)	cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1387-1389)Gcc>Acc		major facilitator superfamily domain containing 2B							62.0	72.0	69.0					2																	24247038		2109	4231	6340	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247038G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1387G>A	2.37:g.24247038G>A	ENSP00000385527:p.Ala463Thr					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A463T	p.A463T			A6NFX1	MFS2B_HUMAN			13	1387	+			463					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1387G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032328	0.54790	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88818	-2.43;-2.43	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.068242	0.56097	U	0.000025	D	0.91570	0.7337	M	0.71581	2.175	0.32785	N	0.501925	D	0.56746	0.977	P	0.52514	0.701	D	0.93483	0.6829	10	0.45353	T	0.12	-12.6105	17.1616	0.86805	0.0:0.0:1.0:0.0	.	463	A6NFX1	MFS2B_HUMAN	T	463	ENSP00000385527:A463T;ENSP00000342501:A463T	ENSP00000342501:A463T	A	+	1	0	MFSD2B	24100542	0.992000	0.36948	0.487000	0.27428	0.752000	0.42762	3.595000	0.54016	2.497000	0.84241	0.456000	0.33151	GCC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		7	32	0	0	0	1	0	7	32				
NRXN2	9379	broad.mit.edu	37	11	64416297	64416297	+	Silent	SNP	G	G	T			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:64416297G>T	ENST00000377551.1	-	15	3403	c.3192C>A	c.(3190-3192)ggC>ggA	p.G1064G	NRXN2_ENST00000377559.3_Silent_p.G1024G|NRXN2_ENST00000409571.1_Silent_p.G1057G|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Silent_p.G1064G			Q9P2S2	NRX2A_HUMAN	neurexin 2	1064	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCAGGCAGCCCTGAAAGC	0.617																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3190-3192)ggC>ggA		neurexin 2							116.0	107.0	110.0					11																	64416297		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64416297G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3192C>A	11.37:g.64416297G>T						AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.G1057G|NRXN2_ENST00000377551.1_Silent_p.G1064G|NRXN2_ENST00000377559.3_Silent_p.G1024G	p.G1064G	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			16	3653	-			1064			Laminin G-like 5.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.3192C>A	CCDS8077.1																																																																																				0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		8	118	1	0	7.48243e-07	1	8.1505e-07	8	118				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	57	0	0	0	1	0	3	57				
PABPC5	140886	broad.mit.edu	37	X	90691469	90691469	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:90691469G>A	ENST00000312600.3	+	2	1107	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.R134Q|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	298						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAAAAAGTCGGCCCCCAGGG	0.453																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(892-894)cGg>cAg		poly(A) binding protein, cytoplasmic 5							30.0	32.0	31.0					X																	90691469		2203	4297	6500	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691469G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.893G>A	X.37:g.90691469G>A	ENSP00000308012:p.Arg298Gln					PABPC5_ENST00000373105.1_Missense_Mutation_p.R134Q	p.R298Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1107	+			298					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.893G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675537	0.47781	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.21734	2.06;1.99	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.42686	1.345	0.45822	D	0.998699	D	0.71674	0.998	P	0.52598	0.703	T	0.01648	-1.1304	10	0.87932	D	0	.	10.8216	0.46608	0.0:0.0:1.0:0.0	.	298	Q96DU9	PABP5_HUMAN	Q	134;298;266	ENSP00000362197:R134Q;ENSP00000308012:R298Q	ENSP00000308012:R298Q	R	+	2	0	PABPC5	90578125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.357000	0.52277	2.318000	0.78349	0.529000	0.55759	CGG		0.453	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		4	31	0	0	0	1	0	4	31				
CSMD3	114788	broad.mit.edu	37	8	113256714	113256714	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr8:113256714G>A	ENST00000297405.5	-	65	10555	c.10311C>T	c.(10309-10311)acC>acT	p.T3437T	CSMD3_ENST00000343508.3_Silent_p.T3397T|CSMD3_ENST00000352409.3_Silent_p.T3367T|CSMD3_ENST00000455883.2_Silent_p.T3268T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGCTGACAGGTATAAATCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10309-10311)acC>acT		CUB and Sushi multiple domains 3							134.0	117.0	123.0					8																	113256714		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113256714G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10311C>T	8.37:g.113256714G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.T3268T|CSMD3_ENST00000343508.3_Silent_p.T3397T|CSMD3_ENST00000352409.3_Silent_p.T3367T	p.T3437T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10555	-			3437			Sushi 28.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10311C>T	CCDS6315.1																																																																																				0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		90	45	0	0	0	1	0	90	45				
LRRK1	79705	broad.mit.edu	37	15	101592010	101592010	+	Silent	SNP	C	C	G			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:101592010C>G	ENST00000388948.3	+	24	3893	c.3534C>G	c.(3532-3534)ccC>ccG	p.P1178P	RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1175P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACGGACCCCAGTGAGAAAT	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3523-3525)ccC>ccG		leucine-rich repeat kinase 1							64.0	75.0	72.0					15																	101592010		2140	4239	6379	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592010C>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3534C>G	15.37:g.101592010C>G						RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1178P	p.P1175P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		25	3925	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1178						Silent	SNP	ENST00000388948.3	37	c.3525C>G	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	60	0	0	0	1	0	4	60				
MLH1	4292	broad.mit.edu	37	3	37067364	37067364	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:37067364G>A	ENST00000231790.2	+	12	1491	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	MLH1_ENST00000458205.2_Silent_p.R184R|MLH1_ENST00000455445.2_Silent_p.R184R|MLH1_ENST00000536378.1_Silent_p.R184R|MLH1_ENST00000435176.1_Silent_p.R327R|MLH1_ENST00000539477.1_Silent_p.R184R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	425	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGGGCTAGGCAGCAAGATG	0.517		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1273-1275)agG>agA	Mismatch excision repair (MMR)	mutL homolog 1							89.0	93.0	92.0					3																	37067364		2203	4300	6503	SO:0001819	synonymous_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37067364G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1275G>A	3.37:g.37067364G>A						MLH1_ENST00000536378.1_Silent_p.R184R|MLH1_ENST00000455445.2_Silent_p.R184R|MLH1_ENST00000458205.2_Silent_p.R184R|MLH1_ENST00000435176.1_Silent_p.R327R|MLH1_ENST00000539477.1_Silent_p.R184R	p.R425R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			12	1491	+			425			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.1275G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636789	0.14386	.	.	ENSG00000076242	ENST00000456676	.	.	.	4.98	-1.11	0.09840	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.27284	N	0.958034	.	.	.	.	.	.	T	0.27872	-1.0061	4	.	.	.	1.0E-4	3.0826	0.06267	0.3533:0.1092:0.4267:0.1108	.	.	.	.	D	417	.	.	G	+	2	0	MLH1	37042368	0.000000	0.05858	0.011000	0.14972	0.282000	0.26991	-0.104000	0.10923	-0.107000	0.12088	-1.045000	0.02358	GGC		0.517	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		4	129	0	0	0	1	0	4	129				
GPR108	56927	broad.mit.edu	37	19	6734270	6734270	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:6734270G>A	ENST00000264080.7	-	5	449	c.423C>T	c.(421-423)ccC>ccT	p.P141P	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	141						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAGGAGCCCGGGAAAGATAA	0.642											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(421-423)ccC>ccT		G protein-coupled receptor 108							45.0	51.0	49.0					19																	6734270		1935	4130	6065	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6734270G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.423C>T	19.37:g.6734270G>A			OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	GPR108_ENST00000430424.4_5'UTR	p.P141P	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			5	449	-			141					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.423C>T	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	3.731	-0.055561	0.07362	.	.	ENSG00000125734	ENST00000549846	.	.	.	3.93	-7.86	0.01187	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	.	5.5768	0.17228	0.1906:0.0:0.5583:0.2511	.	.	.	.	W	124	.	.	R	-	1	2	GPR108	6685270	0.607000	0.26958	0.800000	0.32199	0.205000	0.24178	-0.696000	0.05104	-1.625000	0.01554	-0.258000	0.10820	CGG		0.642	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			16	41	0	0	0	1	0	16	41				
ACCSL	390110	broad.mit.edu	37	11	44069763	44069763	+	Silent	SNP	G	G	A			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:44069763G>A	ENST00000378832.1	+	1	233	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	59					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGAAAGGAGGCACACTGAGG	0.587																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(175-177)agG>agA		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							66.0	75.0	72.0					11																	44069763		2121	4236	6357	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069763G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.177G>A	11.37:g.44069763G>A							p.R59R	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	233	+			59						Silent	SNP	ENST00000378832.1	37	c.177G>A	CCDS41636.1																																																																																				0.587	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		4	103	0	0	0	1	0	4	103				
HABP4	22927	broad.mit.edu	37	9	99212613	99212614	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:99212613_99212614delGA	ENST00000375249.4	+	1	127_128	c.52_53delGA	c.(52-54)gagfs	p.E18fs	HABP4_ENST00000375251.3_Frame_Shift_Del_p.E18fs	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGCGATGCAGGAGAGTTTCGGC	0.733																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(52-54)gfs		hyaluronan binding protein 4																																				SO:0001589	frameshift_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99212613_99212614delGA	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.52_53delGA	9.37:g.99212615_99212616delGA	ENSP00000364398:p.Glu18fs					HABP4_ENST00000375251.3_Frame_Shift_Del_p.E18fs	p.E18fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			1	127_128	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	18						Frame_Shift_Del	DEL	ENST00000375249.4	37	c.52_53delGA	CCDS6719.1																																																																																				0.733	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		2	4						2	4	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54799323	54799323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:54799323delT	ENST00000260323.11	+	22	5310	c.5310delT	c.(5308-5310)aatfs	p.N1770fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.N1768fs|UNC13C_ENST00000545554.1_Frame_Shift_Del_p.N1770fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1770	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGACTATCAATAAAGTGCTGC	0.318																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5308-5310)aafs		unc-13 homolog C (C. elegans)							88.0	83.0	85.0					15																	54799323		1840	4091	5931	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54799323delT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5310delT	15.37:g.54799323delT	ENSP00000260323:p.Asn1770fs					UNC13C_ENST00000537900.1_Frame_Shift_Del_p.N1768fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.N1770fs	p.N1770fs			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	22	5310	+			1770			MHD1.		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.5310delT	CCDS45264.1																																																																																				0.318	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		2	4						2	4	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		ACCCTGCACAGAAAAAAAGTTG	0.307																																						ENST00000344693.5																			0																																																			0							g.chr21:15347257_15347258insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15347264_15347264dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.307	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			5	1						5	1	---	---	---	---
