#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	46	0	0	0	1	0	4	46				
CD3EAP	10849	broad.mit.edu	37	19	45910448	45910448	+	Missense_Mutation	SNP	C	C	A	rs34721735		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:45910448C>A	ENST00000309424.3	+	2	607	c.119C>A	c.(118-120)aCg>aAg	p.T40K	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K|PPP1R13L_ENST00000360957.5_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	40					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTCCAGATACGGAGCTGTGG	0.602																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(118-120)aCg>aAg		CD3e molecule, epsilon associated protein							64.0	63.0	63.0					19																	45910448		2203	4300	6503	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910448C>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.119C>A	19.37:g.45910448C>A	ENSP00000310966:p.Thr40Lys					CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K	p.T40K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	607	+		all_neural(266;0.224)|Ovarian(192;0.231)	40					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.119C>A	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189516	0.57909	.	.	ENSG00000117877	ENST00000309424	T	0.12147	2.71	5.19	1.93	0.25924	.	0.560609	0.17941	N	0.156853	T	0.25494	0.0620	L	0.58101	1.795	0.09310	N	1	D;D	0.69078	0.996;0.997	P;D	0.66497	0.906;0.944	T	0.06215	-1.0839	10	0.33940	T	0.23	-1.7321	7.2167	0.25963	0.0:0.7208:0.0:0.2792	.	42;40	O15446-2;O15446	.;RPA34_HUMAN	K	40	ENSP00000310966:T40K	ENSP00000310966:T40K	T	+	2	0	CD3EAP	50602288	0.076000	0.21285	0.020000	0.16555	0.700000	0.40528	0.921000	0.28718	0.219000	0.20840	-0.258000	0.10820	ACG		0.602	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		3	60	1	0	0.004672	1	0.0047888	3	60				
NBPF10	100132406	broad.mit.edu	37	1	145368516	145368516	+	Silent	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145368516G>A	ENST00000369339.3	+	17	2101	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	NBPF10_ENST00000342960.5_Silent_p.P3498P|NBPF10_ENST00000369338.1_Silent_p.P614P			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	793	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTCGACTCCGTCAATGTACT	0.448																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10492-10494)ccG>ccA		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368516G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1848G>A	1.37:g.145368516G>A						NBPF10_ENST00000369338.1_Silent_p.P614P|NBPF10_ENST00000369339.2_Silent_p.P616P	p.P3498P	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10529	+	all_hematologic(923;0.032)		3498					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10494G>A																																																																																					0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		56	416	0	0	0	1	0	56	416				
KIAA0922	23240	broad.mit.edu	37	4	154506755	154506755	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:154506755A>G	ENST00000409663.3	+	13	1352	c.1300A>G	c.(1300-1302)Atg>Gtg	p.M434V	KIAA0922_ENST00000409959.3_Missense_Mutation_p.M435V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	434						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACCAAGCACATGTTAAAGGT	0.323																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1303-1305)Atg>Gtg		KIAA0922							117.0	115.0	116.0					4																	154506755		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154506755A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1300A>G	4.37:g.154506755A>G	ENSP00000386574:p.Met434Val					KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V|KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V	p.M435V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			13	1352	+	all_hematologic(180;0.093)	Renal(120;0.118)	434					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1303A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	7.195	0.592407	0.13812	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.77	1.8	0.24995	.	0.471517	0.24031	N	0.042192	T	0.46112	0.1376	N	0.15975	0.35	0.20975	N	0.999815	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22277	-1.0221	10	0.34782	T	0.22	-6.5364	3.6824	0.08316	0.6639:0.1343:0.0735:0.1283	.	64;435;435;434	A2VDJ0-2;A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;.;T131L_HUMAN	V	434;435;435;296	ENSP00000386574:M434V;ENSP00000409663:M435V;ENSP00000386787:M435V;ENSP00000240487:M296V	ENSP00000240487:M296V	M	+	1	0	KIAA0922	154726205	0.039000	0.19947	1.000000	0.80357	0.873000	0.50193	-0.664000	0.05292	0.132000	0.18615	0.533000	0.62120	ATG		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		24	69	0	0	0	1	0	24	69				
LILRB2	10288	broad.mit.edu	37	19	54782291	54782291	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:54782291C>T	ENST00000391749.4	-	7	1352	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T|LILRB2_ENST00000391748.1_Missense_Mutation_p.A361T|LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	361	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATCAGCTGCTCCCGCCTTG	0.577																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1081-1083)Gca>Aca		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							137.0	136.0	136.0					19																	54782291		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782291C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1081G>A	19.37:g.54782291C>T	ENSP00000375629:p.Ala361Thr					LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T	p.A361T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1208	-	Ovarian(34;0.19)		361			Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1081G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517282	0.44763	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00705	5.81;5.81;5.81;5.81;5.81	2.54	-2.51	0.06365	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.877260	0.03080	N	0.158392	T	0.02970	0.0088	M	0.67625	2.065	0.09310	N	1	P;P;B	0.45902	0.698;0.868;0.345	P;P;B	0.59546	0.58;0.859;0.377	T	0.37197	-0.9716	10	0.56958	D	0.05	.	8.1169	0.30948	0.6178:0.3822:0.0:0.0	.	361;378;361	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	361;361;361;361;245	ENSP00000375628:A361T;ENSP00000319960:A361T;ENSP00000375629:A361T;ENSP00000375626:A361T;ENSP00000410117:A245T	ENSP00000319960:A361T	A	-	1	0	LILRB2	59474103	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-2.242000	0.01195	-0.489000	0.06716	0.442000	0.29010	GCA		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			5	68	0	0	0	1	0	5	68				
VIPR2	7434	broad.mit.edu	37	7	158823428	158823428	+	Missense_Mutation	SNP	G	G	T	rs201548495		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:158823428G>T	ENST00000262178.2	-	13	1381	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E|VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	399					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCCCGGCTCGCGGACGGGGT	0.701																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1195-1197)gCg>gAg		vasoactive intestinal peptide receptor 2							13.0	16.0	15.0					7																	158823428		2187	4292	6479	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158823428G>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1196C>A	7.37:g.158823428G>T	ENSP00000262178:p.Ala399Glu					VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E	p.A399E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	13	1381	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	399					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.1196C>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095157	0.20471	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.63255	-0.03;-0.03;-0.03	5.23	0.649	0.17806	.	3.145760	0.01807	N	0.033202	T	0.46776	0.1410	N	0.22421	0.69	0.09310	N	0.999994	B	0.27380	0.177	B	0.22386	0.039	T	0.25641	-1.0126	10	0.41790	T	0.15	.	4.3355	0.11083	0.1525:0.5907:0.1349:0.1219	.	399	P41587	VIPR2_HUMAN	E	399;383;540	ENSP00000262178:A399E;ENSP00000366860:A383E;ENSP00000384497:A540E	ENSP00000262178:A399E	A	-	2	0	VIPR2	158516189	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.889000	0.39718	-0.117000	0.11872	0.484000	0.47621	GCG		0.701	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		2	3	1	0	0.0784	1	0.0784	2	3				
ODAM	54959	broad.mit.edu	37	4	71063664	71063664	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:71063664A>G	ENST00000396094.2	+	4	213	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	55					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CATGGATTCCACCTTTCTCTG	0.423																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(163-165)ccA>ccG		odontogenic, ameloblast asssociated							127.0	122.0	123.0					4																	71063664		1848	4090	5938	SO:0001819	synonymous_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063664A>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.165A>G	4.37:g.71063664A>G							p.P55P	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			4	213	+			55					Q8WWE5|Q9NWZ9	Silent	SNP	ENST00000396094.2	37	c.165A>G	CCDS3536.2																																																																																				0.423	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		10	108	0	0	0	1	0	10	108				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	57	0	0	0	1	0	3	57				
ASTN1	460	broad.mit.edu	37	1	177001793	177001793	+	Missense_Mutation	SNP	C	C	T	rs148328689		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:177001793C>T	ENST00000367654.3	-	3	875	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	222					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCCCTGCACGCGGGCATTG	0.602																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(664-666)Gtg>Atg		astrotactin 1							101.0	73.0	82.0					1																	177001793		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001793C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.664G>A	1.37:g.177001793C>T	ENSP00000356626:p.Val222Met					ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M	p.V222M			O14525	ASTN1_HUMAN			3	677	-			222					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.085428	0.76642	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.85;2.85;2.44	5.62	5.62	0.85841	.	0.053876	0.64402	D	0.000001	T	0.17238	0.0414	N	0.08118	0	0.41941	D	0.990619	D;D;D	0.69078	0.997;0.995;0.988	P;P;P	0.51582	0.674;0.674;0.584	T	0.11060	-1.0603	10	0.46703	T	0.11	-19.3675	19.2616	0.93970	0.0:1.0:0.0:0.0	.	222;222;222	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	M	222	ENSP00000356629:V222M;ENSP00000354536:V222M;ENSP00000356626:V222M;ENSP00000395041:V222M	ENSP00000354536:V222M	V	-	1	0	ASTN1	175268416	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	4.768000	0.62293	2.614000	0.88457	0.655000	0.94253	GTG		0.602	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		4	52	0	0	0	1	0	4	52				
P2RY8	286530	broad.mit.edu	37	X	1584769	1584769	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:1584769C>G	ENST00000381297.4	-	2	893	c.683G>C	c.(682-684)gGc>gCc	p.G228A	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTCCCGGCCGTGCGCCTC	0.642			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(682-684)gGc>gCc		purinergic receptor P2Y, G-protein coupled, 8							50.0	36.0	40.0					X																	1584769		2203	4294	6497	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584769C>G	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.683G>C	X.37:g.1584769C>G	ENSP00000370697:p.Gly228Ala						p.G228A	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	893	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	228						Missense_Mutation	SNP	ENST00000381297.4	37	c.683G>C	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	4.125	0.021499	0.08006	.	.	ENSG00000182162	ENST00000381297	T	0.40225	1.04	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.398417	0.23656	U	0.045864	T	0.28830	0.0715	N	0.20807	0.61	0.09310	N	1	P	0.47484	0.896	B	0.41202	0.35	T	0.13045	-1.0524	10	0.49607	T	0.09	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	228	Q86VZ1	P2RY8_HUMAN	A	228	ENSP00000370697:G228A	ENSP00000370697:G228A	G	-	2	0	P2RY8	1544769	0.576000	0.26700	0.014000	0.15608	0.316000	0.28119	3.925000	0.56484	1.007000	0.39238	0.279000	0.19357	GGC		0.642	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		3	24	0	0	0	1	0	3	24				
C2orf88	84281	broad.mit.edu	37	2	191064711	191064711	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:191064711T>C	ENST00000340623.4	+	2	536	c.125T>C	c.(124-126)gTt>gCt	p.V42A	C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	42						plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GCTTCTCCAGTTAATGTCAAA	0.458																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(124-126)gTt>gCt		chromosome 2 open reading frame 88							166.0	168.0	167.0					2																	191064711		1929	4133	6062	SO:0001583	missense	84281							g.chr2:191064711T>C	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.125T>C	2.37:g.191064711T>C	ENSP00000345107:p.Val42Ala					C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A	p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	536	+			42					D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	c.125T>C	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	T	1.001	-0.690986	0.03303	.	.	ENSG00000187699	ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.16	-10.3	0.00346	.	2.120180	0.03104	N	0.161610	T	0.22126	0.0533	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12708	-1.0537	8	.	.	.	4.4509	2.035	0.03538	0.3454:0.3491:0.1527:0.1529	.	42	Q9BSF0	CB088_HUMAN	A	42	ENSP00000380172:V42A;ENSP00000386976:V42A;ENSP00000386649:V42A;ENSP00000345107:V42A;ENSP00000405225:V42A	.	V	+	2	0	C2orf88	190772956	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.211000	0.02997	-3.066000	0.00255	-0.263000	0.10527	GTT		0.458	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		17	116	0	0	0	1	0	17	116				
GLRA2	2742	broad.mit.edu	37	X	14548194	14548194	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:14548194A>G	ENST00000218075.4	+	1	545	c.15A>G	c.(13-15)ctA>ctG	p.L5L	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Silent_p.L5L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	5					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	ACCGGCAGCTAGTGAACATTT	0.378																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(13-15)ctA>ctG		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						129.0	111.0	117.0					X																	14548194		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14548194A>G		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.15A>G	X.37:g.14548194A>G						GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR	p.L5L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			1	545	+	Hepatocellular(33;0.128)		5					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.15A>G	CCDS14160.1																																																																																				0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			14	86	0	0	0	1	0	14	86				
GALC	2581	broad.mit.edu	37	14	88454498	88454498	+	Silent	SNP	C	C	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:88454498C>A	ENST00000261304.2	-	3	424	c.318G>T	c.(316-318)ggG>ggT	p.G106G	GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Silent_p.G83G|GALC_ENST00000393569.2_Silent_p.G80G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	106					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTTGTCTGCCCATCACCAC	0.363																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(316-318)ggG>ggT		galactosylceramidase							102.0	91.0	94.0					14																	88454498		1863	4084	5947	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88454498C>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.318G>T	14.37:g.88454498C>A						GALC_ENST00000393569.2_Silent_p.G80G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393568.4_Silent_p.G83G	p.G106G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			3	424	-			106					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.318G>T	CCDS9878.2																																																																																				0.363	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			3	46	1	0	0.00024832	1	0.000261054	3	46				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	34	0	0	0	1	0	4	34				
FAM83G	644815	broad.mit.edu	37	17	18880902	18880902	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:18880902C>T	ENST00000388995.6	-	5	2300	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	693					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCACCTGTGCCTCCTTGTCT	0.632																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2077-2079)Gca>Aca		family with sequence similarity 83, member G							37.0	42.0	40.0					17																	18880902		2150	4248	6398	SO:0001583	missense	644815							g.chr17:18880902C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2077G>A	17.37:g.18880902C>T	ENSP00000373647:p.Ala693Thr					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron	p.A693T			A6ND36	FA83G_HUMAN			5	2300	-			693					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2077G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236902	0.39498	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11495	2.77;2.77	5.97	-6.63	0.01807	.	3.422580	0.00892	N	0.002241	T	0.04724	0.0128	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39840	-0.9594	10	0.05525	T	0.97	6.0472	7.5505	0.27793	0.1213:0.3616:0.0:0.5171	.	693	A6ND36	FA83G_HUMAN	T	693	ENSP00000373647:A693T;ENSP00000343279:A693T	ENSP00000343279:A693T	A	-	1	0	FAM83G	18821627	0.030000	0.19436	0.006000	0.13384	0.524000	0.34500	-0.338000	0.07842	-1.092000	0.03062	0.655000	0.94253	GCA		0.632	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			17	40	0	0	0	1	0	17	40				
CENPI	2491	broad.mit.edu	37	X	100400090	100400090	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:100400090A>G	ENST00000372927.1	+	16	1880	c.1603A>G	c.(1603-1605)Aaa>Gaa	p.K535E	CENPI_ENST00000423383.1_Missense_Mutation_p.K535E|CENPI_ENST00000218507.5_Missense_Mutation_p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	535					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCTGTGTCTAAACTGATCCA	0.398																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1603-1605)Aaa>Gaa		centromere protein I							198.0	171.0	180.0					X																	100400090		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100400090A>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1603A>G	X.37:g.100400090A>G	ENSP00000362018:p.Lys535Glu					CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E	p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			16	1880	+			535					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1603A>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	A	0.085	-1.177671	0.01633	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.36	0.384	0.16244	.	0.252219	0.44902	N	0.000410	T	0.04998	0.0134	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40289	-0.9571	9	0.02654	T	1	-2.5611	5.4167	0.16378	0.2696:0.1694:0.561:0.0	.	535;535	B4DZL4;Q92674	.;CENPI_HUMAN	E	535	.	ENSP00000218507:K535E	K	+	1	0	CENPI	100286746	0.839000	0.29477	0.731000	0.30826	0.386000	0.30323	0.976000	0.29462	-0.029000	0.13827	0.486000	0.48141	AAA		0.398	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		14	105	0	0	0	1	0	14	105				
LRBA	987	broad.mit.edu	37	4	151821338	151821338	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:151821338G>A	ENST00000357115.3	-	14	2030	c.1787C>T	c.(1786-1788)aCg>aTg	p.T596M	LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000535741.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGAATTCCGTGGACAGATA	0.408																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1786-1788)aCg>aTg		LPS-responsive vesicle trafficking, beach and anchor containing							112.0	104.0	107.0					4																	151821338		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151821338G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1787C>T	4.37:g.151821338G>A	ENSP00000349629:p.Thr596Met					LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M	p.T596M			P50851	LRBA_HUMAN			14	2260	-	all_hematologic(180;0.151)		596					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1787C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742862	0.89573	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.59	5.59	0.84812	Armadillo-type fold (1);	0.073459	0.52532	D	0.000066	T	0.65133	0.2662	M	0.72894	2.215	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.989;0.999	P;P;P	0.56514	0.745;0.726;0.8	T	0.68265	-0.5454	10	0.72032	D	0.01	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	596;596;596	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	596	ENSP00000446299:T596M;ENSP00000421552:T596M;ENSP00000349629:T596M;ENSP00000422180:T596M	ENSP00000349629:T596M	T	-	2	0	LRBA	152040788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.803000	0.85983	2.614000	0.88457	0.655000	0.94253	ACG		0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			11	51	0	0	0	1	0	11	51				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	40	0	0	0	1	0	4	40				
AKR1CL1	340811	broad.mit.edu	37	10	5203731	5203731	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:5203731C>T	ENST00000334314.3	-	4	455		c.e4-1		AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGGAAGAACCCTGGAAACCAA	0.388																																					Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.e4-1		aldo-keto reductase family 1, member C-like 1							115.0	113.0	113.0					10																	5203731		2203	4300	6503	SO:0001630	splice_region_variant	340811							g.chr10:5203731C>T			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.379-1G>A	10.37:g.5203731C>T														4	455	-								A6NF66|Q6ZN81	Splice_Site	SNP	ENST00000334314.3	37			.	.	.	.	.	.	.	.	.	.	C	4.075	0.011812	0.07912	.	.	ENSG00000196326	ENST00000334314	.	.	.	2.02	-0.171	0.13331	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9012	0.18967	0.2134:0.5779:0.2087:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKR1CL1	5193731	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.335000	0.07873	-0.034000	0.13713	0.305000	0.20034	.		0.388	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916	Intron	32	81	0	0	0	1	0	32	81				
KLHL15	80311	broad.mit.edu	37	X	24024162	24024162	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:24024162T>C	ENST00000328046.8	-	3	904	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAATGATGGTATCGGTATGT	0.448																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(649-651)Acc>Gcc		kelch-like family member 15							198.0	182.0	187.0					X																	24024162		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024162T>C	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.649A>G	X.37:g.24024162T>C	ENSP00000332791:p.Thr217Ala						p.T217A	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			3	904	-			217			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.649A>G	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743463	0.15642	.	.	ENSG00000174010	ENST00000328046	T	0.68025	-0.3	5.52	4.36	0.52297	BTB/Kelch-associated (2);	0.092335	0.85682	D	0.000000	T	0.43478	0.1249	N	0.08118	0	0.47009	D	0.999281	B	0.02656	0.0	B	0.08055	0.003	T	0.33317	-0.9873	10	0.30078	T	0.28	.	10.0037	0.41944	0.0:0.0801:0.0:0.9199	.	217	Q96M94	KLH15_HUMAN	A	217	ENSP00000332791:T217A	ENSP00000332791:T217A	T	-	1	0	KLHL15	23934083	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.268000	0.43338	1.845000	0.53610	0.441000	0.28932	ACC		0.448	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		4	240	0	0	0	1	0	4	240				
CREBRF	153222	broad.mit.edu	37	5	172535680	172535680	+	Missense_Mutation	SNP	C	C	T	rs201664801		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:172535680C>T	ENST00000296953.2	+	5	1595	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CREBRF_ENST00000540014.1_Missense_Mutation_p.R426W	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	426					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AATATCTTCACGGAAGAGAGG	0.393																																						ENST00000540014.1																			0											c.(1276-1278)Cgg>Tgg		CREB3 regulatory factor		C	TRP/ARG	0,4406		0,0,2203	91.0	88.0	89.0		1276	4.5	1.0	5		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C5orf41	NM_153607.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	426/640	172535680	2,13004	2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172535680C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1276C>T	5.37:g.172535680C>T	ENSP00000296953:p.Arg426Trp					CREBRF_ENST00000296953.2_Missense_Mutation_p.R426W	p.R426W			Q8IUR6	CE041_HUMAN			5	1595	+			426					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1276C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044319	0.75732	0.0	2.33E-4	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.25579	1.79;1.79	5.49	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.44513	-0.9323	10	0.72032	D	0.01	.	16.9952	0.86365	0.1361:0.8639:0.0:0.0	.	426	Q8IUR6	CE041_HUMAN	W	426	ENSP00000296953:R426W;ENSP00000440075:R426W	ENSP00000296953:R426W	R	+	1	2	C5orf41	172468286	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	1.230000	0.32612	2.583000	0.87209	0.585000	0.79938	CGG		0.393	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		5	81	0	0	0	1	0	5	81				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			8	36	0	0	0	1	0	8	36				
CCIN	881	broad.mit.edu	37	9	36170642	36170642	+	Silent	SNP	C	C	T	rs371614522		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGTGGGCGGGAGCATTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		22378	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1141-1143)ggC>ggT		calicin		C		1,4405	2.1+/-5.4	0,1,2202	132.0	114.0	121.0		1143	-3.6	1.0	9		121	0,8600		0,0,4300	no	coding-synonymous	CCIN	NM_005893.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/589	36170642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170642C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1143C>T	9.37:g.36170642C>T							p.G381G	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1254	+			381					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1143C>T	CCDS6599.1																																																																																				0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		4	81	0	0	0	1	0	4	81				
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498																																						ENST00000284165.6																			5	Substitution - Missense(5)	p.R60Q(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(178-180)cGg>cAg		MYC associated factor X							100.0	88.0	92.0					14																	65544747		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544747C>T		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln					MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q	p.R60Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	327	-			60			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.179G>A	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	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	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		12	53	0	0	0	1	0	12	53				
WDR75	84128	broad.mit.edu	37	2	190316559	190316559	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:190316559C>T	ENST00000314761.4	+	4	371	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	104						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAACTTCATGCCCTCTTTACT	0.383																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(310-312)gCc>gTc		WD repeat domain 75							190.0	193.0	192.0					2																	190316559		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190316559C>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.311C>T	2.37:g.190316559C>T	ENSP00000314193:p.Ala104Val						p.A104V	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		4	371	+			104					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.311C>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558888	0.65538	.	.	ENSG00000115368	ENST00000314761	T	0.04502	3.61	5.14	3.21	0.36854	WD40 repeat-like-containing domain (1);	0.337163	0.31747	N	0.007122	T	0.05181	0.0138	L	0.50333	1.59	0.36873	D	0.889003	P;P	0.44627	0.839;0.839	B;B	0.36719	0.164;0.231	T	0.51004	-0.8760	10	0.16896	T	0.51	-4.4707	14.2206	0.65823	0.0:0.7168:0.2832:0.0	.	104;104	A8K330;Q8IWA0	.;WDR75_HUMAN	V	104	ENSP00000314193:A104V	ENSP00000314193:A104V	A	+	2	0	WDR75	190024804	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.664000	0.37439	1.344000	0.45657	0.655000	0.94253	GCC		0.383	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		4	149	0	0	0	1	0	4	149				
GSTM2	2946	broad.mit.edu	37	1	110217422	110217422	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:110217422T>C	ENST00000241337.4	+	8	671	c.621T>C	c.(619-621)ccT>ccC	p.P207P	GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	207	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TCCCAAGACCTGTGTTCACAA	0.577																																						ENST00000241337.4																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(619-621)ccT>ccC		glutathione S-transferase mu 2 (muscle)							188.0	163.0	172.0					1																	110217422		2202	4299	6501	SO:0001819	synonymous_variant	2946							g.chr1:110217422T>C	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.621T>C	1.37:g.110217422T>C						GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P	p.P207P	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	671	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.621T>C	CCDS808.1																																																																																				0.577	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		4	55	0	0	0	1	0	4	55				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	37	0	0	0	1	0	3	37				
EDEM3	80267	broad.mit.edu	37	1	184686700	184686700	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:184686700C>G	ENST00000318130.8	-	12	1485	c.1219G>C	c.(1219-1221)Gca>Cca	p.A407P	EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	407					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTACTTTCTGCAAATTCTGGC	0.333																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1219-1221)Gca>Cca		ER degradation enhancer, mannosidase alpha-like 3							73.0	79.0	77.0					1																	184686700		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184686700C>G	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1219G>C	1.37:g.184686700C>G	ENSP00000318147:p.Ala407Pro					EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	p.A407P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			12	1485	-			407					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.1219G>C	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364216	0.82463	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.72835	-0.69;-0.69	4.99	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89095	3.005	0.80722	D	1	D	0.53619	0.961	P	0.60609	0.877	D	0.88223	0.2898	10	0.87932	D	0	.	15.5316	0.75968	0.0:0.8611:0.1389:0.0	.	407	Q9BZQ6	EDEM3_HUMAN	P	407;364	ENSP00000318147:A407P;ENSP00000356482:A364P	ENSP00000318147:A407P	A	-	1	0	EDEM3	182953323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	1.192000	0.43071	0.585000	0.79938	GCA		0.333	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		3	55	0	0	0	1	0	3	55				
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T	rs539290653		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.001					ENST00000261486.5																			3	Substitution - Missense(3)	p.R246L(2)|p.R246Q(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(736-738)cGg>cAg		erythrocyte membrane protein band 4.1 like 4A							148.0	130.0	136.0					5																	111594984		1807	4092	5899	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111594984C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.737G>A	5.37:g.111594984C>T	ENSP00000261486:p.Arg246Gln						p.R246Q	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	9	1013	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	246			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.737G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046182	0.93740	.	.	ENSG00000129595	ENST00000261486	D	0.82081	-1.57	5.28	5.28	0.74379	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	M	0.64997	1.995	0.40889	D	0.984053	D	0.69078	0.997	P	0.55545	0.778	D	0.89465	0.3739	10	0.87932	D	0	.	18.0454	0.89330	0.0:1.0:0.0:0.0	.	246	Q9HCS5	E41LA_HUMAN	Q	246	ENSP00000261486:R246Q	ENSP00000261486:R246Q	R	-	2	0	EPB41L4A	111622883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.751000	0.68720	2.644000	0.89710	0.655000	0.94253	CGG		0.393	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			8	78	0	0	0	1	0	8	78				
NPDC1	56654	broad.mit.edu	37	9	139934450	139934450	+	Silent	SNP	C	C	T	rs370852515		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:139934450C>T	ENST00000371601.4	-	8	1071	c.858G>A	c.(856-858)acG>acA	p.T286T	NPDC1_ENST00000371600.3_Silent_p.T364T|RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	286						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACTCGTACACCGTGAAGTCTC	0.672													c|||	1	0.000199681	0.0	0.0014	5008	,	,		11404	0.0		0.0	False		,,,				2504	0.0					ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(1090-1092)acG>acA		neural proliferation, differentiation and control, 1				1,4403	2.1+/-5.4	0,1,2201	67.0	66.0	67.0		858	-7.9	0.4	9		67	0,8598		0,0,4299	no	coding-synonymous	NPDC1	NM_015392.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		286/326	139934450	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139934450C>T	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.858G>A	9.37:g.139934450C>T						NPDC1_ENST00000371601.4_Silent_p.T286T	p.T364T			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1764	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	286					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.1092G>A	CCDS7024.1																																																																																				0.672	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		4	62	0	0	0	1	0	4	62				
PDHA1	5160	broad.mit.edu	37	X	19373476	19373476	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:19373476T>A	ENST00000422285.2	+	7	718	c.613T>A	c.(613-615)Ttc>Atc	p.F205I	PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000379806.5_Missense_Mutation_p.F243I|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			F -> L (in X-LS; PDHAD). {ECO:0000269|PubMed:7887409, ECO:0000269|PubMed:8199595}.		acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GGGCCAGATATTCGAAGCTTA	0.463																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(727-729)Ttc>Atc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						150.0	140.0	143.0					X																	19373476		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373476T>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.613T>A	X.37:g.19373476T>A	ENSP00000394382:p.Phe205Ile					PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I	p.F243I	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			8	872	+	Hepatocellular(33;0.183)		205		Y -> N (in PDHE1 deficiency).			A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.727T>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278197	0.95459	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	H	0.96996	3.92	0.80722	D	1	P;D;D;D;D	0.60575	0.728;0.965;0.988;0.987;0.988	P;P;P;D;P	0.69654	0.58;0.849;0.881;0.965;0.881	D	0.99589	1.0975	10	0.87932	D	0	-14.7248	15.2395	0.73458	0.0:0.0:0.0:1.0	.	174;212;205;243;205	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	I	243;212;174;205	ENSP00000369134:F243I;ENSP00000438550:F212I;ENSP00000440761:F174I;ENSP00000394382:F205I	ENSP00000369134:F243I	F	+	1	0	PDHA1	19283397	1.000000	0.71417	0.988000	0.46212	0.893000	0.52053	7.655000	0.83696	2.050000	0.60909	0.481000	0.45027	TTC		0.463	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			22	180	0	0	0	1	0	22	180				
ADH4	127	broad.mit.edu	37	4	100047870	100047870	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:100047870T>C	ENST00000265512.7	-	8	1067	c.993A>G	c.(991-993)gtA>gtG	p.V331V	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V|ADH4_ENST00000505590.1_Silent_p.V350V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	331					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GGATAGAATCTACACTTTTCC	0.373																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1048-1050)gtA>gtG		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						93.0	91.0	92.0					4																	100047870		2203	4300	6503	SO:0001819	synonymous_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047870T>C	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.993A>G	4.37:g.100047870T>C						RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.V331V|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V	p.V350V			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	9	1215	-			331					A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	c.1050A>G	CCDS34032.1																																																																																				0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		6	72	0	0	0	1	0	6	72				
RBM4	5936	broad.mit.edu	37	11	66407646	66407646	+	Intron	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr11:66407646A>G	ENST00000409406.1	+	1	1189				RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000483858.1_Missense_Mutation_p.N155S|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4						cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGTGCAGAAAATGGTTGGATA	0.468																																						ENST00000483858.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(463-465)aAt>aGt		RNA binding motif protein 4							16.0	14.0	15.0					11																	66407646		1326	2308	3634	SO:0001627	intron_variant	5936							g.chr11:66407646A>G	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.412+52A>G	11.37:g.66407646A>G						RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000310092.7_Intron|RBM14-RBM4_ENST00000412278.2_Intron	p.N155S						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	531	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.464A>G	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	A	9.470	1.095251	0.20471	.	.	ENSG00000173933	ENST00000483858;ENST00000532968	T;T	0.22743	1.94;1.94	3.83	-3.79	0.04320	.	.	.	.	.	T	0.08758	0.0217	.	.	.	0.09310	N	1	B	0.27656	0.184	B	0.21151	0.033	T	0.31971	-0.9924	7	.	.	.	.	2.0732	0.03618	0.4912:0.2292:0.1666:0.113	.	155	Q9BWF3-2	.	S	155	ENSP00000435821:N155S;ENSP00000432020:N155S	.	N	+	2	0	RBM4	66164222	0.041000	0.20044	0.000000	0.03702	0.208000	0.24298	0.307000	0.19296	-0.877000	0.04012	-1.447000	0.01057	AAT		0.468	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		3	19	0	0	0	1	0	3	19				
CIC	23152	broad.mit.edu	37	19	42791974	42791974	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:42791974C>G	ENST00000575354.2	+	6	818	c.778C>G	c.(778-780)Cac>Gac	p.H260D	CIC_ENST00000572681.2_Missense_Mutation_p.H1169D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGGAGGCCCACTTCAAGGC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3505-3507)Cac>Gac		capicua transcriptional repressor							40.0	37.0	38.0					19																	42791974		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791974C>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.778C>G	19.37:g.42791974C>G	ENSP00000458663:p.His260Asp					CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D	p.H1169D			Q96RK0	CIC_HUMAN			7	3573	+		Prostate(69;0.00682)	260			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3505C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065523	0.36470	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	3.55	0.40652	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.75199	0.3817	H	0.94658	3.565	0.54753	D	0.999985	P	0.41131	0.739	P	0.45856	0.495	T	0.80464	-0.1371	8	0.87932	D	0	-10.9937	10.7434	0.46166	0.0:0.9065:0.0:0.0935	.	260	Q96RK0	CIC_HUMAN	D	260	.	ENSP00000160740:H260D	H	+	1	0	CIC	47483814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.594000	0.61041	1.159000	0.42565	0.555000	0.69702	CAC		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			3	7	0	0	0	1	0	3	7				
CDK12	51755	broad.mit.edu	37	17	37672031	37672031	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:37672031A>G	ENST00000447079.4	+	9	2849	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCAAGCCAATCTGGAACTG	0.403			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2815-2817)aAt>aGt		cyclin-dependent kinase 12							117.0	110.0	112.0					17																	37672031		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37672031A>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2816A>G	17.37:g.37672031A>G	ENSP00000398880:p.Asn939Ser	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			9	2849	+			939			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2816A>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685461	0.68157	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64438	-0.1;-0.1	6.03	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000173	T	0.44912	0.1316	N	0.11284	0.12	0.80722	D	1	P;B;B	0.38129	0.619;0.362;0.312	B;B;B	0.38921	0.285;0.185;0.116	T	0.51188	-0.8737	10	0.72032	D	0.01	-12.1634	11.8765	0.52550	0.9326:0.0:0.0674:0.0	.	938;939;939	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	S	939	ENSP00000407720:N939S;ENSP00000398880:N939S	ENSP00000407720:N939S	N	+	2	0	CDK12	34925557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	1.113000	0.41760	0.533000	0.62120	AAT		0.403	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		6	51	0	0	0	1	0	6	51				
IPO11	51194	broad.mit.edu	37	5	61785996	61785996	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:61785996A>G	ENST00000325324.6	+	15	1581	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D511G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	471					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGATTTTGATCAGTGGTTT	0.284																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(1411-1413)gAt>gGt		importin 11							98.0	104.0	102.0					5																	61785996		2203	4296	6499	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61785996A>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1412A>G	5.37:g.61785996A>G	ENSP00000316651:p.Asp471Gly					IPO11_ENST00000409296.3_Missense_Mutation_p.D511G|KIF2A_ENST00000509663.2_Intron	p.D471G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	15	1581	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	471					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1412A>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743640	0.69418	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.67171	-0.25;-0.25	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.44542	1.39	0.80722	D	1	P;P	0.48089	0.905;0.846	P;B	0.47470	0.548;0.42	T	0.66842	-0.5821	10	0.42905	T	0.14	.	14.9698	0.71223	1.0:0.0:0.0:0.0	.	511;471	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	G	471;511;41	ENSP00000316651:D471G;ENSP00000386992:D511G	ENSP00000316651:D471G	D	+	2	0	IPO11	61821753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.770000	0.91746	1.993000	0.58246	0.528000	0.53228	GAT		0.284	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		12	86	0	0	0	1	0	12	86				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	32	0	0	0	1	0	4	32				
ANTXR2	118429	broad.mit.edu	37	4	80940082	80940082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:80940082delT	ENST00000307333.7	-	11	917	c.915delA	c.(913-915)tcafs	p.S305fs	ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	305					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTAATGATCCTGAAATGACAG	0.303									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(913-915)tcfs		anthrax toxin receptor 2							67.0	58.0	61.0					4																	80940082		1792	4042	5834	SO:0001589	frameshift_variant	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80940082delT	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.915delA	4.37:g.80940082delT	ENSP00000306185:p.Ser305fs					ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs	p.S305fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			11	1440	-			305					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	ENST00000307333.7	37	c.915delA	CCDS47086.1																																																																																				0.303	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		2	4						2	4	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174536	150174537	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:150174536_150174537delTT	ENST00000307271.3	+	5	2240_2241	c.1666_1667delTT	c.(1666-1668)tttfs	p.F556fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	556	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGAGCAGACTTTACGAAATAC	0.495																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1666-1668)tfs		GTPase, IMAP family member 8																																				SO:0001589	frameshift_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174536_150174537delTT	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1666_1667delTT	7.37:g.150174536_150174537delTT	ENSP00000305107:p.Phe556fs						p.F556fs	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2240_2241	+			556						Frame_Shift_Del	DEL	ENST00000307271.3	37	c.1666_1667delTT	CCDS34777.1																																																																																				0.495	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		15	73						15	73	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450|rs143611048|rs79156963	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.L100H(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-300)cca>cCCACCAca		histidine rich carboxyl terminus 1																																				SO:0001652	inframe_insertion	646962					integral to membrane		g.chr9:35906583_35906584insCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.306_311dupCCACCA	9.37:g.35906584_35906589dupCCACCA	ENSP00000346283:p.His104_His105dup						p.100_101insTT	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	395_396	+			100			His-rich.		B7ZBJ1	In_Frame_Ins	INS	ENST00000354323.2	37	c.299_300insCCACCA	CCDS35012.1																																																																																				0.668	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		4	9						4	9	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		2	4						2	4	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76781673	76781675	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:76781673_76781675delAGA	ENST00000287239.4	+	16	3545_3547	c.3056_3058delAGA	c.(3055-3060)gagaag>gag	p.K1020del	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_In_Frame_Del_p.K728del|KAT6B_ENST00000372725.1_In_Frame_Del_p.K728del|KAT6B_ENST00000372711.1_In_Frame_Del_p.K837del|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_In_Frame_Del_p.K728del	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1020					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGCTGCTGGGAGAAGGAGGAACA	0.498											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287239.4																			0											c.(3055-3060)gag>g		K(lysine) acetyltransferase 6B																																				SO:0001651	inframe_deletion	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781673_76781675delAGA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3056_3058delAGA	10.37:g.76781673_76781675delAGA	ENSP00000287239:p.Lys1020del		OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	KAT6B_ENST00000372725.1_In_Frame_Del_p.EK727del|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_In_Frame_Del_p.EK836del|KAT6B_ENST00000372714.1_In_Frame_Del_p.EK727del|KAT6B_ENST00000372724.1_In_Frame_Del_p.EK727del	p.EK1019del	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			16	3545_3547	+			1019					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	In_Frame_Del	DEL	ENST00000287239.4	37	c.3056_3058delAGA	CCDS7345.1																																																																																				0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	32						7	32	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	4	4						4	4	---	---	---	---
SNORD3C	780853	broad.mit.edu	37	17	19091495	19091497	+	lincRNA	DEL	TTC	TTC	-	rs201019141	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:19091495_19091497delTTC	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		ttgatgatcgttcttctctccgt	0.542																																						ENST00000365494.1																			0																																																			0							g.chr17:19091495_19091497delTTC			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091498_19091500delTTC														0	167_169	+									RNA	DEL	ENST00000362428.1	37																																																																																						0.542	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		11	357						11	357	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73487406	73487407	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:73487406_73487407delAG	ENST00000314256.7	+	13	1650_1651	c.1256_1257delAG	c.(1255-1257)cagfs	p.Q419fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	419						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGACAAACAGGGGATCCTGT	0.589																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1255-1257)cfs		KIAA0195																																				SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487406_73487407delAG		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1256_1257delAG	17.37:g.73487406_73487407delAG	ENSP00000313885:p.Gln419fs					KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	p.Q419fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1650_1651	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		419					O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	c.1256_1257delAG	CCDS32732.1																																																																																				0.589	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		14	86						14	86	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		29	98						29	98	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106117115	106117115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:106117115delT	ENST00000357242.5	+	21	3457	c.3283delT	c.(3283-3285)tttfs	p.F1096fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1096							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTGAGGTTTTTTGAGAA	0.408																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3283-3285)ttfs		TBC1 domain family, member 8B (with GRAM domain)							87.0	83.0	84.0					X																	106117115		2203	4300	6503	SO:0001589	frameshift_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106117115delT	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3283delT	X.37:g.106117115delT	ENSP00000349781:p.Phe1096fs					TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	p.F1096fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			21	3457	+			1096					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Frame_Shift_Del	DEL	ENST00000357242.5	37	c.3283delT	CCDS14522.1																																																																																				0.408	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		15	107						15	107	---	---	---	---
