#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFH	3075	broad.mit.edu	37	1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	ENST00000367429.4	+	11	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	560	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1678-1680)gAt>gGt		complement factor H							237.0	224.0	229.0					1																	196684882		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684882A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1679A>G	1.37:g.196684882A>G	ENSP00000356399:p.Asp560Gly						p.D560G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1919	+			560			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1679A>G	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192566	0.21954	.	.	ENSG00000000971	ENST00000367429	T	0.61980	0.06	5.42	1.36	0.22044	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50292	0.1607	M	0.63169	1.94	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.39941	-0.9589	9	0.07325	T	0.83	.	5.5249	0.16953	0.6634:0.1586:0.1781:0.0	.	560	P08603	CFAH_HUMAN	G	560	ENSP00000356399:D560G	ENSP00000356399:D560G	D	+	2	0	CFH	194951505	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.232000	0.17891	0.336000	0.23639	0.533000	0.62120	GAT		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	137	15	137	---	---	---	---
MEMO1	51072	broad.mit.edu	37	2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	ENST00000295065.5	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|AL121652.1_ENST00000408399.1_RNA|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	83					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373																																						ENST00000295065.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(247-249)Gtg>Ttg		mediator of cell motility 1							86.0	91.0	89.0					2																	32145945		2203	4300	6503	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32145945C>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.247G>T	2.37:g.32145945C>A	ENSP00000295065:p.Val83Leu					MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L	p.V83L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			4	556	-	Acute lymphoblastic leukemia(172;0.155)							B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.247G>T	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933464	0.73442	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	L	0.52823	1.66	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.17979	0.02;0.001	T	0.59783	-0.7389	9	0.41790	T	0.15	-1.1744	19.5476	0.95305	0.0:1.0:0.0:0.0	.	60;83	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	L	83;86;83;60	.	ENSP00000295065:V83L	V	-	1	0	MEMO1	31999449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	2.719000	0.93026	0.655000	0.94253	GTG		0.373	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		31	69	31	69	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	ENST00000233099.5	-	17	2536	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	814						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2440-2442)gCt>gTt		HEAT repeat containing 5B							56.0	57.0	57.0					2																	37280709		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37280709G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2441C>T	2.37:g.37280709G>A	ENSP00000233099:p.Ala814Val					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			17	2536	-		all_hematologic(82;0.21)	814					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2441C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042567	0.75732	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65732	-0.17;-0.17	5.85	5.85	0.93711	Armadillo-type fold (1);	0.045203	0.85682	D	0.000000	T	0.55417	0.1919	L	0.39898	1.24	0.80722	D	1	B	0.32338	0.365	B	0.28465	0.09	T	0.50311	-0.8843	10	0.27785	T	0.31	-12.931	20.1736	0.98170	0.0:0.0:1.0:0.0	.	814	Q9P2D3	HTR5B_HUMAN	V	814	ENSP00000233099:A814V;ENSP00000346531:A814V	ENSP00000233099:A814V	A	-	2	0	HEATR5B	37134213	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.808000	0.99193	2.767000	0.95098	0.557000	0.71058	GCT		0.318	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		12	36	12	36	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	ENST00000420323.2	+	72	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3934	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11605-11607)tAc>tTc		dynein, axonemal, heavy chain 1							134.0	137.0	136.0					3																	52430809		1944	4134	6078	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430809A>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11606A>T	3.37:g.52430809A>T	ENSP00000401514:p.Tyr3869Phe						p.Y3869F	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11867	+			3934			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11606A>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	7.154	0.584388	0.13749	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08282	3.11	4.34	4.34	0.51931	.	0.090564	0.46145	D	0.000310	T	0.09818	0.0241	N	0.10733	0.035	0.51012	D	0.999903	B;D	0.71674	0.378;0.998	B;D	0.76071	0.317;0.987	T	0.13469	-1.0508	10	0.02654	T	1	.	13.6769	0.62460	1.0:0.0:0.0:0.0	.	3869;3934	C9JXH6;Q9P2D7-2	.;.	F	3869;622	ENSP00000401514:Y3869F	ENSP00000273600:Y622F	Y	+	2	0	DNAH1	52405849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.745000	0.55119	1.824000	0.53156	0.482000	0.46254	TAC		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		80	197	80	197	---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:124449418T>C	ENST00000232607.2	+	1	206	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	34	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CGGGCTTTCCTCCCCCATCTA	0.602																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(100-102)Tcc>Ccc		uridine monophosphate synthetase							88.0	78.0	82.0					3																	124449418		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449418T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.100T>C	3.37:g.124449418T>C	ENSP00000232607:p.Ser34Pro					UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	p.S34P	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	206	+			34			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.100T>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420850	0.83559	.	.	ENSG00000114491	ENST00000232607	T	0.74947	-0.89	5.15	5.15	0.70609	.	0.063541	0.64402	D	0.000004	D	0.90913	0.7144	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93860	0.7153	10	0.87932	D	0	-10.4186	13.7115	0.62672	0.0:0.0:0.0:1.0	.	34	P11172	UMPS_HUMAN	P	34	ENSP00000232607:S34P	ENSP00000232607:S34P	S	+	1	0	UMPS	125932108	1.000000	0.71417	0.927000	0.36925	0.718000	0.41266	5.170000	0.64990	2.155000	0.67459	0.460000	0.39030	TCC		0.602	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		3	98	3	98	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	ENST00000359240.3	+	5	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(937-939)Tgt>Cgt		ADAM metallopeptidase domain 29							154.0	152.0	153.0					4																	175897613		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897613T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.937T>C	4.37:g.175897613T>C	ENSP00000352177:p.Cys313Arg					ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R	p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1607	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	313			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.937T>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539782	0.45176	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.23	2.94	0.34122	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.218004	0.23250	U	0.050256	T	0.30916	0.0780	M	0.85197	2.74	0.39689	D	0.971015	D	0.89917	1.0	D	0.87578	0.998	T	0.08146	-1.0736	9	.	.	.	.	6.4968	0.22146	0.2158:0.0:0.0:0.7842	.	313	Q9UKF5	ADA29_HUMAN	R	313	ENSP00000352177:C313R;ENSP00000414544:C313R;ENSP00000384229:C313R;ENSP00000423517:C313R	.	C	+	1	0	ADAM29	176134188	0.156000	0.22821	0.575000	0.28536	0.009000	0.06853	0.612000	0.24283	1.904000	0.55121	0.523000	0.50628	TGT		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				40	90	40	90	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr5:149452922A>G	ENST00000286301.3	-	7	1315	c.1024T>C	c.(1024-1026)Ttt>Ctt	p.F342L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	342	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGTCAGAAAAGGGTCCCAGG	0.567																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1024-1026)Ttt>Ctt		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						222.0	206.0	211.0					5																	149452922		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149452922A>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1024T>C	5.37:g.149452922A>G	ENSP00000286301:p.Phe342Leu					CSF1R_ENST00000543093.1_Intron	p.F342L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		7	1315	-			342			Ig-like C2-type 4.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1024T>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.346743	0.41599	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.75154	-0.91	4.81	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.126288	0.36134	N	0.002776	T	0.61527	0.2354	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.27068	0.069;0.167	B;B	0.27500	0.032;0.08	T	0.52162	-0.8612	10	0.07482	T	0.82	.	7.8672	0.29543	0.7895:0.2105:0.0:0.0	.	194;342	B4E2Y8;P07333	.;CSF1R_HUMAN	L	342;194	ENSP00000286301:F342L	ENSP00000286301:F342L	F	-	1	0	CSF1R	149433115	1.000000	0.71417	0.673000	0.29887	0.548000	0.35241	2.565000	0.45939	1.808000	0.52836	0.533000	0.62120	TTT		0.567	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	254	4	254	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	ENST00000230419.4	+	3	650	c.429G>C	c.(427-429)caG>caC	p.Q143H	PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	143	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCAGCCACAGACCCAGGTCA	0.592											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(427-429)caG>caC		protein tyrosine kinase 7							104.0	84.0	91.0					6																	43097526		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43097526G>C	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.429G>C	6.37:g.43097526G>C	ENSP00000230419:p.Gln143His		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H	p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	650	+			143			Ig-like C2-type 2.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.429G>C	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348568	0.61183	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.302105	0.36374	N	0.002638	T	0.25082	0.0609	N	0.25380	0.74	0.29345	N	0.865729	P;P;D;P;D;P	0.58970	0.699;0.898;0.964;0.898;0.984;0.951	P;P;P;P;P;P	0.59115	0.699;0.694;0.717;0.579;0.852;0.793	T	0.10245	-1.0638	10	0.72032	D	0.01	.	8.986	0.35994	0.0:0.2408:0.5107:0.2485	.	151;143;143;143;143;143	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	143;143;143;143;143;151;151	ENSP00000230419:Q143H;ENSP00000419037:Q143H;ENSP00000325462:Q143H;ENSP00000326029:Q143H;ENSP00000325992:Q143H;ENSP00000418754:Q151H	ENSP00000230418:Q143H	Q	+	3	2	PTK7	43205504	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.330000	0.43885	1.348000	0.45733	0.563000	0.77884	CAG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			31	78	31	78	---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	ENST00000339697.4	-	2	178	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	32					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373																																						ENST00000339697.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(94-96)Gga>Aga		serine incorporator 1							176.0	164.0	168.0					6																	122779772		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122779772C>T	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.94G>A	6.37:g.122779772C>T	ENSP00000342962:p.Gly32Arg						p.G32R	NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	2	178	-								B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.94G>A	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359493	0.82353	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13420	2.59;2.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	L	0.46157	1.445	0.80722	D	1	B	0.30605	0.287	B	0.39299	0.296	T	0.04307	-1.0961	10	0.54805	T	0.06	-14.2083	18.9774	0.92743	0.0:1.0:0.0:0.0	.	32	Q9NRX5	SERC1_HUMAN	R	32	ENSP00000342962:G32R;ENSP00000357439:G32R	ENSP00000342962:G32R	G	-	1	0	SERINC1	122821471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	2.551000	0.86045	0.650000	0.86243	GGA		0.373	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		53	108	53	108	---	---	---	---
RNF217-AS1	7955	broad.mit.edu	37	6	125233565	125233565	+	RNA	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:125233565G>T	ENST00000439075.1	-	0	1180					NR_026876.1																						TTTTCTAATGGCTATCTTGTT	0.378																																						ENST00000439075.1																			0																				114.0	116.0	116.0					6																	125233565		876	1991	2867			7955							g.chr6:125233565G>T																													6.37:g.125233565G>T								NR_026876.1						0	1180	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.378	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			7	45	7	45	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154379675	154379675	+	Intron	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:154379675C>T	ENST00000377770.3	+	6	768				DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.L315F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACCTGCAGCCCTCAGGCAGCA	0.587																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(943-945)Ctc>Ttc		dipeptidyl-peptidase 6							171.0	151.0	157.0					7																	154379675		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379675C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49856C>T	7.37:g.154379675C>T						DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron	p.L315F			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1346	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.943C>T		.	.	.	.	.	.	.	.	.	.	C	4.067	0.010213	0.07912	.	.	ENSG00000130226	ENST00000406326	.	.	.	2.76	0.881	0.19166	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.28709	0.093	T	0.21586	-1.0241	7	0.87932	D	0	.	3.4215	0.07395	0.25:0.6089:0.0:0.1411	.	315	Q8IYG9	.	F	315	.	ENSP00000384393:L315F	L	+	1	0	DPP6	154010608	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	0.067000	0.14510	0.200000	0.20447	-0.521000	0.04368	CTC		0.587	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		69	112	69	112	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90252885	90252885	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	ENST00000408954.3	+	4	647	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000469640.2_Silent_p.F104F|DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(310-312)ttC>ttT		death-associated protein kinase 1							116.0	113.0	114.0					9																	90252885		2053	4223	6276	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252885C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.312C>T	9.37:g.90252885C>T						DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F	p.F104F			P53355	DAPK1_HUMAN			4	687	+			104			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.312C>T	CCDS43842.1																																																																																				0.418	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		8	93	8	93	---	---	---	---
KRTAP5-4	387267	broad.mit.edu	37	11	1643175	1643175	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:1643175C>T	ENST00000399682.1	-	1	193	c.149G>A	c.(148-150)tGt>tAt	p.C50Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGGGCACACAGCAGCTGGa	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(148-150)tGt>tAt		keratin associated protein 5-4							9.0	18.0	15.0					11																	1643175		687	1577	2264	SO:0001583	missense	387267					keratin filament		g.chr11:1643175C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.149G>A	11.37:g.1643175C>T	ENSP00000382590:p.Cys50Tyr						p.C50Y	NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	193	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	50			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	12.82	2.053978	0.36277	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01034	5.42	3.17	3.17	0.36434	.	.	.	.	.	T	0.04182	0.0116	M	0.87456	2.885	0.29415	N	0.860974	.	.	.	.	.	.	T	0.01096	-1.1453	7	0.87932	D	0	.	10.1583	0.42836	0.0:1.0:0.0:0.0	.	.	.	.	Y	50	ENSP00000382590:C50Y	ENSP00000331603:C50Y	C	-	2	0	KRTAP5-4	1599751	0.997000	0.39634	0.994000	0.49952	0.805000	0.45488	4.665000	0.61547	1.462000	0.47948	0.586000	0.80456	TGT		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		73	149	73	149	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83243769	83243769	+	Silent	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	ENST00000532653.1	-	16	2162	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000398309.2_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000398304.1_Silent_p.G102G			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	331					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1858-1860)ggA>ggG		discs, large homolog 2 (Drosophila)							191.0	174.0	179.0					11																	83243769		1877	4108	5985	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83243769T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1860A>G	11.37:g.83243769T>C						DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G	p.G620G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			16	2330	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	620					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.1860A>G																																																																																					0.398	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		40	57	40	57	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	ENST00000228606.4	-	5	1012	c.803T>C	c.(802-804)gTg>gCg	p.V268A	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	268					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(802-804)gTg>gCg		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						75.0	71.0	73.0					12																	58158697		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158697A>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.803T>C	12.37:g.58158697A>G	ENSP00000228606:p.Val268Ala						p.V268A	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	1012	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		268					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.803T>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535212	0.45176	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70869	-0.52;2.51	4.65	4.65	0.58169	.	0.065892	0.64402	D	0.000008	T	0.76499	0.3996	M	0.64997	1.995	0.38436	D	0.946587	P	0.36974	0.576	P	0.48738	0.588	T	0.81274	-0.1007	10	0.87932	D	0	-21.5057	13.1872	0.59688	1.0:0.0:0.0:0.0	.	268	O15528	CP27B_HUMAN	A	268;33	ENSP00000228606:V268A;ENSP00000449472:V33A	ENSP00000228606:V268A	V	-	2	0	CYP27B1	56444964	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	GTG		0.607	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		41	84	41	84	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81648693	81648693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:81648693C>A	ENST00000548058.1	+	16	2963	c.2053C>A	c.(2053-2055)Caa>Aaa	p.Q685K	ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K|ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	685						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AATGCTGAAGCAAGCATAATG	0.303																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(2053-2055)Caa>Aaa		acyl-CoA synthetase short-chain family member 3							93.0	96.0	95.0					12																	81648693		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81648693C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.2053C>A	12.37:g.81648693C>A	ENSP00000449535:p.Gln685Lys					ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K|ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K	p.Q685K			Q9H6R3	ACSS3_HUMAN			16	2963	+			685					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.2053C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306922	0.01353	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.25250	1.83;1.83;1.81	5.95	1.9	0.25705	.	0.596516	0.18257	N	0.146780	T	0.12689	0.0308	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.15952	T	0.53	-2.1878	16.9362	0.86203	0.7213:0.2786:0.0:0.0	.	367;685	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	685;684;367	ENSP00000449535:Q685K;ENSP00000261206:Q684K;ENSP00000448965:Q367K	ENSP00000261206:Q684K	Q	+	1	0	ACSS3	80172824	0.429000	0.25530	0.076000	0.20297	0.019000	0.09904	0.664000	0.25068	0.069000	0.16605	0.650000	0.86243	CAA		0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		3	62	3	62	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	ENST00000379747.4	-	9	1276	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_ENST00000541481.1_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	387	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1159-1161)Ctt>Att		periostin, osteoblast specific factor							132.0	104.0	113.0					13																	38158190		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38158190G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1159C>A	13.37:g.38158190G>T	ENSP00000369071:p.Leu387Ile					POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I	p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	9	1276	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	387			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1159C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926630	0.73327	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.81	5.81	0.92471	FAS1 domain (4);	0.100828	0.64402	D	0.000002	D	0.94581	0.8254	L	0.54323	1.7	0.40477	D	0.980401	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.975;0.999;0.992;0.97;0.975	D;D;P;D;D;P;P	0.85130	0.997;0.995;0.876;0.995;0.986;0.804;0.876	D	0.94256	0.7498	10	0.49607	T	0.09	-15.8209	14.2643	0.66107	0.0707:0.0:0.9293:0.0	.	387;387;387;387;387;387;387	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	I	387	ENSP00000437959:L387I;ENSP00000369073:L387I;ENSP00000369071:L387I;ENSP00000369067:L387I;ENSP00000369066:L387I;ENSP00000437953:L387I	ENSP00000369066:L387I	L	-	1	0	POSTN	37056190	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	3.341000	0.52151	2.746000	0.94184	0.591000	0.81541	CTT		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		12	34	12	34	---	---	---	---
CEBPE	1053	broad.mit.edu	37	14	23587880	23587880	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	ENST00000206513.5	-	1	945	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	141					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(421-423)Ctg>Ttg		CCAAT/enhancer binding protein (C/EBP), epsilon							25.0	26.0	25.0					14																	23587880		2202	4299	6501	SO:0001819	synonymous_variant	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587880G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.421C>T	14.37:g.23587880G>A							p.L141L	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	945	-	all_cancers(95;4.6e-05)		141					Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	c.421C>T	CCDS9589.1																																																																																				0.677	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		15	21	15	21	---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1709961	1709962	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961_1709962GA>AG	ENST00000397412.3	+	11	2409_2410	c.2310_2311GA>AG	c.(2308-2313)ggGAag>ggAGag	p.K771E	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	771						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGAC	0.639																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2308-2310)ggG>ggA|c.(2311-2313)Aag>Gag		Crm, cramped-like (Drosophila)																																				SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1709961G>A|g.chr16:1709962A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	Exception_encountered	16.37:g.1709961_1709962delinsAG	ENSP00000380559:p.Lys771Glu					CRAMP1L_ENST00000293925.5_Silent_p.G770G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.G148G|CRAMP1L_ENST00000436138.3_Silent_p.G767G|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E	p.G770G|p.K771E			Q96RY5	CRML_HUMAN			11	2409|2410	+			770|771					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent|Missense_Mutation	SNP	ENST00000397412.3	37	c.2310G>A|c.2311A>G	CCDS10440.2																																																																																				0.639	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	35|34	18	34	---	---	---	---
KRI1	65095	broad.mit.edu	37	19	10670558	10670558	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	ENST00000312962.6	-	10	892	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_ENST00000361821.5_Silent_p.E287E|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	285	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(871-873)gaG>gaA		KRI1 homolog (S. cerevisiae)							56.0	59.0	58.0					19																	10670558		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10670558C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.873G>A	19.37:g.10670558C>T						KRI1_ENST00000361821.5_Silent_p.E287E	p.E291E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	892	-			291			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.873G>A	CCDS12242.1																																																																																				0.592	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		11	27	11	27	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(253-255)gaT>gaA		zinc finger protein 615							56.0	53.0	54.0					19																	52498074		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52498074A>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.255T>A	19.37:g.52498074A>T	ENSP00000473089:p.Asp85Glu					ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E	p.D85E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	604	-		all_neural(266;0.117)	85					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.255T>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545571	0.45280	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.22;3.19	3.31	3.31	0.37934	.	.	.	.	.	T	0.05044	0.0135	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.27732	0.118;0.187;0.187;0.118	B;B;B;B	0.27500	0.037;0.08;0.08;0.037	T	0.40403	-0.9565	9	0.06236	T	0.91	.	5.2434	0.15483	0.8678:0.0:0.1322:0.0	.	90;92;96;85	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	85;95;90;95	ENSP00000365906:D85E;ENSP00000375672:D90E	ENSP00000347019:D95E	D	-	3	2	ZNF615	57189886	0.000000	0.05858	0.004000	0.12327	0.509000	0.34042	0.144000	0.16135	1.502000	0.48669	0.533000	0.62120	GAT		0.328	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		6	37	6	37	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50244193	50244193	+	Silent	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	ENST00000338821.5	-	17	2055	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	597					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1789-1791)cgG>cgT		ATPase, class II, type 9A							216.0	204.0	208.0					20																	50244193		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50244193C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1791G>T	20.37:g.50244193C>A						ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R	p.R597R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			17	2055	-			597					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1791G>T	CCDS33489.1																																																																																				0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		104	264	104	264	---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779274	52779274	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	ENST00000216862.3	-	7	1365	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_ENST00000395954.3_Silent_p.Q182Q|CYP24A1_ENST00000395955.3_Silent_p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	324					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(970-972)caG>caA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						62.0	59.0	60.0					20																	52779274		2203	4300	6503	SO:0001819	synonymous_variant	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779274C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.972G>A	20.37:g.52779274C>T						CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1365	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		324					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.972G>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			8	59	8	59	---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779277	52779277	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	ENST00000216862.3	-	7	1362	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_ENST00000395954.3_Silent_p.L181L|CYP24A1_ENST00000395955.3_Silent_p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	323					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(967-969)ctC>ctA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						64.0	61.0	62.0					20																	52779277		2203	4300	6503	SO:0001819	synonymous_variant	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779277G>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.969C>A	20.37:g.52779277G>T						CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1362	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		323					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.969C>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			9	59	9	59	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	180					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(538-540)Gct>Act		topoisomerase (DNA) III beta							80.0	67.0	72.0					22																	22324625		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22324625C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.538G>A	22.37:g.22324625C>T	ENSP00000381773:p.Ala180Thr					TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	6	972	-	Colorectal(54;0.105)		180					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.538G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711980	0.96830	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.30714	1.52;1.52;1.52	4.77	3.75	0.43078	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.74881	2.28	0.80722	D	1	D	0.57899	0.981	P	0.59595	0.86	T	0.57171	-0.7857	10	0.87932	D	0	0.0418	13.2482	0.60036	0.0:0.9231:0.0:0.0769	.	180	O95985	TOP3B_HUMAN	T	180	ENSP00000349705:A180T;ENSP00000381773:A180T;ENSP00000390977:A180T	ENSP00000349705:A180T	A	-	1	0	TOP3B	20654625	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.607000	0.82883	1.241000	0.43820	0.555000	0.69702	GCT		0.622	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		7	72	7	72	---	---	---	---
GK	2710	broad.mit.edu	37	X	30737631	30737631	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	ENST00000378943.3	+	14	1311	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	GK_ENST00000378945.3_Splice_Site_p.G378R|GK_ENST00000378946.3_Splice_Site_p.G384R|GK_ENST00000427190.1_Splice_Site_p.G179R|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	384					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(1132-1134)Ggg>Cgg		glycerol kinase							59.0	54.0	55.0					X																	30737631		2201	4299	6500	SO:0001630	splice_region_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30737631G>C	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1133+1G>C	X.37:g.30737631G>C						GK_ENST00000378946.3_Splice_Site_p.G384R|GK_ENST00000378945.3_Splice_Site_p.G378R|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R	p.G378R	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			14	1311	+			384					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Splice_Site	SNP	ENST00000378943.3	37	c.1132G>C	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076209	0.94000	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.67	5.67	0.87782	Carbohydrate kinase, FGGY, C-terminal (1);Carbohydrate kinase, FGGY, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	18.9996	0.92828	0.0:0.0:1.0:0.0	.	221;384;378;378;384	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	R	384;378;384;378;179;221	ENSP00000368229:G384R;ENSP00000368226:G378R;ENSP00000368228:G378R;ENSP00000401720:G179R	ENSP00000368226:G378R	G	+	1	0	GK	30647552	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.568000	0.98166	2.522000	0.85027	0.594000	0.82650	GGG		0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	Missense_Mutation	29	15	29	15	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140983190	140983190	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	ENST00000298296.1	+	5	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1045-1047)Caa>Aaa		melanoma antigen family C, 3							96.0	86.0	89.0					X																	140983190		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140983190C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1045C>A	X.37:g.140983190C>A	ENSP00000298296:p.Gln349Lys					MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	p.Q349K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			5	1045	+	Acute lymphoblastic leukemia(192;6.56e-05)		349			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1045C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	0.420	-0.908750	0.02434	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.37411	4.15;1.2	0.683	-0.433	0.12287	.	.	.	.	.	T	0.22936	0.0554	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19289	-1.0310	8	0.42905	T	0.14	.	.	.	.	.	349	Q8TD91	MAGC3_HUMAN	K	349;101	ENSP00000298296:Q349K;ENSP00000395092:Q101K	ENSP00000298296:Q349K	Q	+	1	0	MAGEC3	140810856	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	-0.133000	0.10451	-0.228000	0.09869	-0.874000	0.02982	CAA		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		45	27	45	27	---	---	---	---
MED26	9441	broad.mit.edu	37	19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	ENST00000263390.3	-	3	413	c.151delA	c.(151-153)acafs	p.T51fs	CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	51	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(151-153)acafs		mediator complex subunit 26							39.0	42.0	41.0					19																	16688490		2203	4300	6503	SO:0001589	frameshift_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688490delT	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.151delA	19.37:g.16688490delT	ENSP00000263390:p.Thr51fs					CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs	p.T51fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	413	-			51			TFIIS N-terminal.		A1A4S3|Q0VGB6	Frame_Shift_Del	DEL	ENST00000263390.3	37	c.151delA	CCDS12347.1																																																																																				0.537	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		23	44	23	44	---	---	---	---
