#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
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_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	83	0	0	0	1	0	3	83				
LIN9	286826	broad.mit.edu	37	1	226453951	226453951	+	Missense_Mutation	SNP	C	C	T	rs201671299		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:226453951C>T	ENST00000328205.5	-	9	1492	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q|LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	300					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATAATGTAACCGTGGTGGGGT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		9889	0.0		0.0	False		,,,				2504	0.001				Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(946-948)cGg>cAg		lin-9 homolog (C. elegans)		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	66.0		947	4.0	1.0	1		66	0,8600		0,0,4300	no	missense	LIN9	NM_173083.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	316/559	226453951	1,13005	2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226453951C>T	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.947G>A	1.37:g.226453951C>T	ENSP00000329102:p.Arg316Gln					LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q|LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q	p.R316Q	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1492	-	Breast(184;0.158)		300					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.947G>A	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752314	0.69533	2.27E-4	0.0	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	3.97	0.46021	.	0.051200	0.85682	N	0.000000	T	0.68174	0.2972	M	0.64404	1.975	0.58432	D	0.999999	D;D;D	0.89917	0.998;0.999;1.0	P;P;D	0.76575	0.743;0.815;0.988	T	0.64685	-0.6349	9	0.10902	T	0.67	.	12.3055	0.54900	0.0:0.8641:0.0:0.1359	.	281;300;450	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	Q	276;316;371;265;281;450	.	ENSP00000329102:R316Q	R	-	2	0	LIN9	224520574	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.776000	0.75023	0.824000	0.34613	-0.258000	0.10820	CGG		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		27	20	0	0	0	1	0	27	20				
PAX1	5075	broad.mit.edu	37	20	21689898	21689898	+	Silent	SNP	C	C	T	rs201381441		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:21689898C>T	ENST00000398485.2	+	4	1152	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	PAX1_ENST00000444366.2_Silent_p.P342P|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	366					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCTTTCTCCCCGCCTGCGCCT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		11972	0.0		0.001	False		,,,				2504	0.0					ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1096-1098)ccC>ccT		paired box 1							54.0	67.0	63.0					20																	21689898		2195	4284	6479	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689898C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1098C>T	20.37:g.21689898C>T						PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P	p.P366P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1152	+			366					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1098C>T	CCDS13146.2																																																																																				0.711	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			44	61	0	0	0	1	0	44	61				
BCL11B	64919	broad.mit.edu	37	14	99737529	99737529	+	Silent	SNP	C	C	G			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:99737529C>G	ENST00000357195.3	-	1	36	c.27G>C	c.(25-27)ccG>ccC	p.P9P	BCL11B_ENST00000443726.2_Silent_p.P9P|BCL11B_ENST00000345514.2_Silent_p.P9P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	9					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACAAGTGCTGCGGGTTGCCCT	0.701			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(25-27)ccG>ccC		B-cell CLL/lymphoma 11B (zinc finger protein)							21.0	20.0	20.0					14																	99737529		2203	4298	6501	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99737529C>G	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.27G>C	14.37:g.99737529C>G						BCL11B_ENST00000357195.3_Silent_p.P9P|BCL11B_ENST00000443726.2_Silent_p.P9P	p.P9P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	1	293	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	0					Q9H162	Silent	SNP	ENST00000357195.3	37	c.27G>C	CCDS9950.1																																																																																				0.701	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	10	0	0	0	1	0	5	10				
ZNHIT1	10467	broad.mit.edu	37	7	100865908	100865908	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100865908C>T	ENST00000305105.2	+	2	574	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	16					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCCGGGCAGCGGCGGGTGCT	0.682																																						ENST00000305105.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11						c.(46-48)Cgg>Tgg		zinc finger, HIT-type containing 1							42.0	52.0	49.0					7																	100865908		2199	4295	6494	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100865908C>T	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.46C>T	7.37:g.100865908C>T	ENSP00000304593:p.Arg16Trp					ZNHIT1_ENST00000492315.1_3'UTR	p.R16W	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN			2	574	+	Lung NSC(181;0.168)|all_lung(186;0.215)		16					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.46C>T	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459654	0.84317	.	.	ENSG00000106400	ENST00000305105	.	.	.	4.75	3.84	0.44239	.	0.064506	0.64402	D	0.000009	T	0.59797	0.2220	L	0.55990	1.75	0.58432	D	0.999999	D	0.71674	0.998	P	0.50162	0.633	T	0.63695	-0.6579	9	0.66056	D	0.02	-28.7465	12.107	0.53818	0.1731:0.8269:0.0:0.0	.	16	O43257	ZNHI1_HUMAN	W	16	.	ENSP00000304593:R16W	R	+	1	2	ZNHIT1	100652628	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.378000	0.59568	1.080000	0.41073	0.478000	0.44815	CGG		0.682	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		39	59	0	0	0	1	0	39	59				
ITPR3	3710	broad.mit.edu	37	6	33652604	33652604	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr6:33652604G>A	ENST00000374316.5	+	40	6251	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1731					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCTGGACAAGGAGGGGGCCAC	0.627																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5191-5193)Gag>Aag		inositol 1,4,5-trisphosphate receptor, type 3							64.0	64.0	64.0					6																	33652604		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33652604G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5191G>A	6.37:g.33652604G>A	ENSP00000363435:p.Glu1731Lys					ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K	p.E1731K			Q14573	ITPR3_HUMAN			40	6251	+			1731					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5191G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109557	0.94292	.	.	ENSG00000096433	ENST00000374316	D	0.86164	-2.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.64997	1.995	0.80722	D	1	B	0.31989	0.35	B	0.29663	0.105	T	0.79112	-0.1937	10	0.36615	T	0.2	-40.71	15.5016	0.75703	0.0:0.1377:0.8623:0.0	.	1731	Q14573	ITPR3_HUMAN	K	1731	ENSP00000363435:E1731K	ENSP00000363435:E1731K	E	+	1	0	ITPR3	33760582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.735000	0.93741	0.655000	0.94253	GAG		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	63	0	0	0	1	0	6	63				
MUC17	140453	broad.mit.edu	37	7	100685415	100685415	+	Missense_Mutation	SNP	A	A	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100685415A>T	ENST00000306151.4	+	3	10782	c.10718A>T	c.(10717-10719)gAa>gTa	p.E3573V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3573	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCAAGTGAAGGAAGCTCT	0.468																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10717-10719)gAa>gTa		mucin 17, cell surface associated							197.0	196.0	196.0					7																	100685415		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685415A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10718A>T	7.37:g.100685415A>T	ENSP00000302716:p.Glu3573Val						p.E3573V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10782	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3573			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10718A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	8.193	0.796348	0.16327	.	.	ENSG00000169876	ENST00000306151	T	0.02158	4.42	1.34	1.34	0.21922	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	D	0.72982	0.979	T	0.49762	-0.8905	9	0.29301	T	0.29	.	3.4345	0.07441	0.6412:0.0:0.0:0.3588	.	3573	Q685J3	MUC17_HUMAN	V	3573	ENSP00000302716:E3573V	ENSP00000302716:E3573V	E	+	2	0	MUC17	100472135	0.000000	0.05858	0.119000	0.21687	0.029000	0.11900	-2.111000	0.01333	0.584000	0.29591	0.165000	0.16767	GAA		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		70	92	0	0	0	1	0	70	92				
TAS2R3	50831	broad.mit.edu	37	7	141464342	141464342	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:141464342G>A	ENST00000247879.2	+	1	446	c.384G>A	c.(382-384)agG>agA	p.R128R	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	128					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAGTTTCTAGGGTGATGGTAT	0.483																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(382-384)agG>agA		taste receptor, type 2, member 3							225.0	202.0	210.0					7																	141464342		2203	4300	6503	SO:0001819	synonymous_variant	50831				sensory perception of taste		taste receptor activity	g.chr7:141464342G>A	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.384G>A	7.37:g.141464342G>A						SSBP1_ENST00000465582.1_Intron	p.R128R	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	446	+	Melanoma(164;0.0171)		128					A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	c.384G>A	CCDS5867.1																																																																																				0.483	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			34	86	0	0	0	1	0	34	86				
C19orf44	84167	broad.mit.edu	37	19	16632349	16632349	+	IGR	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:16632349G>A	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Silent_p.H710H|CHERP_ENST00000546361.2_Silent_p.H699H|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.H699Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGGGCCTGTCGTGGGACGGGG	0.672																																						ENST00000546361.2																			1	Substitution - Missense(1)	p.H699Q(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2095-2097)caC>caT		calcium homeostasis endoplasmic reticulum protein							15.0	18.0	17.0					19																	16632349		1886	4103	5989	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16632349G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16632349G>A						CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.H710H|CHERP_ENST00000544299.1_5'UTR	p.H699H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			12	2248	-			699					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.2097C>T	CCDS12345.1																																																																																				0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	4	0	0	0	1	0	7	4				
MPDZ	8777	broad.mit.edu	37	9	13190215	13190215	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:13190215T>C	ENST00000319217.7	-	16	2299	c.2052A>G	c.(2050-2052)acA>acG	p.T684T	MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	684					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAACCTCTTCTGTACTCTGAC	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2050-2052)acA>acG		multiple PDZ domain protein							79.0	75.0	76.0					9																	13190215		2072	4217	6289	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190215T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2052A>G	9.37:g.13190215T>C						MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T	p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2299	-			684					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.2052A>G																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		17	12	0	0	0	1	0	17	12				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR380_ENST00000362112.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			574408							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		4	200	0	0	0	1	0	4	200				
MPHOSPH9	10198	broad.mit.edu	37	12	123706152	123706152	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:123706152T>C	ENST00000606320.1	-	5	845	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MPHOSPH9_ENST00000539639.1_5'Flank|MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K|MPHOSPH9_ENST00000541076.2_Silent_p.K183K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	213						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCTTAGGGTCTTTAGATTTGT	0.438																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(637-639)aaA>aaG		M-phase phosphoprotein 9							116.0	116.0	116.0					12																	123706152		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706152T>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.639A>G	12.37:g.123706152T>C						MPHOSPH9_ENST00000541076.2_Silent_p.K183K|MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K	p.K213K			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	845	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		61					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.639A>G		.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131127	0.01756	.	.	ENSG00000257076	ENST00000539336	.	.	.	5.1	-1.29	0.09288	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-12.0772	5.3311	0.15932	0.2291:0.4478:0.0:0.3231	.	.	.	.	G	71	.	.	R	-	1	2	RP11-546D6.2	122272105	0.001000	0.12720	0.006000	0.13384	0.099000	0.18886	-0.169000	0.09911	-0.499000	0.06623	-0.952000	0.02654	AGA		0.438	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			38	59	0	0	0	1	0	38	59				
GABRA4	2557	broad.mit.edu	37	4	46967155	46967155	+	Missense_Mutation	SNP	G	G	T	rs41301813		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:46967155G>T	ENST00000264318.3	-	8	1948	c.966C>A	c.(964-966)ttC>ttA	p.F322L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	322					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAGCTATGAACCAGTCCA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(964-966)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						153.0	130.0	138.0					4																	46967155		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967155G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.966C>A	4.37:g.46967155G>T	ENSP00000264318:p.Phe322Leu						p.F322L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1948	-			322					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.966C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966040	0.92855	.	.	ENSG00000109158	ENST00000264318	D	0.86769	-2.17	4.81	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.75447	2.3	0.58432	D	0.999992	D	0.69078	0.997	D	0.74348	0.983	D	0.92519	0.6023	10	0.87932	D	0	.	11.8776	0.52556	0.0836:0.0:0.9164:0.0	.	322	P48169	GBRA4_HUMAN	L	322	ENSP00000264318:F322L	ENSP00000264318:F322L	F	-	3	2	GABRA4	46661912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.618000	0.67722	1.238000	0.43771	0.591000	0.81541	TTC		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			25	46	1	0	3.6726e-16	1	3.93493e-16	25	46				
ZNF777	27153	broad.mit.edu	37	7	149152905	149152905	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:149152905C>T	ENST00000247930.4	-	2	532	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	70			R -> W (in dbSNP:rs3735318).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATGTGGCATCCGGCCAGAAGT	0.577																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(208-210)cGg>cAg		zinc finger protein 777							81.0	89.0	87.0					7																	149152905		1901	4124	6025	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152905C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.209G>A	7.37:g.149152905C>T	ENSP00000247930:p.Arg70Gln						p.R70Q	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	532	-	Melanoma(164;0.165)		70		R -> W (in dbSNP:rs3735318).			Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.209G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699987	0.30142	.	.	ENSG00000196453	ENST00000247930	T	0.05513	3.43	4.66	3.56	0.40772	.	0.386982	0.19111	N	0.122454	T	0.03783	0.0107	N	0.14661	0.345	0.20196	N	0.999928	B	0.06786	0.001	B	0.04013	0.001	T	0.41395	-0.9511	10	0.33940	T	0.23	-5.1325	6.4528	0.21914	0.0:0.8167:0.0:0.1833	.	70	Q9ULD5-2	.	Q	70	ENSP00000247930:R70Q	ENSP00000247930:R70Q	R	-	2	0	ZNF777	148783838	0.503000	0.26115	0.993000	0.49108	0.890000	0.51754	0.571000	0.23669	0.678000	0.31325	0.462000	0.41574	CGG		0.577	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		36	54	0	0	0	1	0	36	54				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	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)																																																197331							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		3	15	0	0	0	1	0	3	15				
CIC	23152	broad.mit.edu	37	19	42791285	42791285	+	Silent	SNP	G	G	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:42791285G>T	ENST00000575354.2	+	3	385	c.345G>T	c.(343-345)ggG>ggT	p.G115G	CIC_ENST00000160740.3_Silent_p.G115G|CIC_ENST00000572681.2_Silent_p.G1024G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	115	Pro-rich.				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)				ACCCTTTGGGGGTGGTGGAAT	0.682			"""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.(3070-3072)ggG>ggT		capicua transcriptional repressor							20.0	28.0	25.0					19																	42791285		2191	4292	6483	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791285G>T	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.345G>T	19.37:g.42791285G>T						CIC_ENST00000575354.2_Silent_p.G115G|CIC_ENST00000160740.3_Silent_p.G115G	p.G1024G			Q96RK0	CIC_HUMAN			4	3140	+		Prostate(69;0.00682)	115			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.3072G>T	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	54	1	0	2.56e-06	1	2.56e-06	4	54				
TACC3	10460	broad.mit.edu	37	4	1732665	1732665	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:1732665C>T	ENST00000313288.4	+	5	1543	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	479					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTTGGCAGCCGAGACCCCAA	0.632																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1435-1437)gcC>gcT		transforming, acidic coiled-coil containing protein 3							68.0	61.0	63.0					4																	1732665		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1732665C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1437C>T	4.37:g.1732665C>T							p.A479A	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		5	1543	+		Breast(71;0.212)|all_epithelial(65;0.241)	479					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.1437C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	3.360	-0.130730	0.06753	.	.	ENSG00000013810	ENST00000343760;ENST00000470136	.	.	.	3.59	-7.19	0.01500	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.076	1.9057	0.03276	0.1733:0.3509:0.2702:0.2056	.	.	.	.	X	120;146	.	ENSP00000345465:R120X	R	+	1	2	TACC3	1702463	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.656000	0.00106	-3.078000	0.00251	-1.155000	0.01812	CGA		0.632	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			3	32	0	0	0	1	0	3	32				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_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		5	62	0	0	0	1	0	5	62				
FHL1	2273	broad.mit.edu	37	X	135288722	135288722	+	Missense_Mutation	SNP	G	G	A	rs11557264		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:135288722G>A	ENST00000345434.3	+	2	212	c.131G>A	c.(130-132)cGc>cAc	p.R44H	FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000543669.1_Missense_Mutation_p.R44H|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H|FHL1_ENST00000370683.1_Missense_Mutation_p.R60H|FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H			Q13642	FHL1_HUMAN	four and a half LIM domains 1	44	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGGAATGCCGCAAGCCCATC	0.562																																						ENST00000543669.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(130-132)cGc>cAc		four and a half LIM domains 1							177.0	157.0	164.0					X																	135288722		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288722G>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.131G>A	X.37:g.135288722G>A	ENSP00000071281:p.Arg44His					FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000370683.1_Missense_Mutation_p.R60H|FHL1_ENST00000345434.3_Missense_Mutation_p.R44H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H|FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H	p.R44H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN			2	842	+	Acute lymphoblastic leukemia(192;0.000127)		44			LIM zinc-binding 1.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.131G>A	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804089	0.50315	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.46	5.46	0.80206	Zinc finger, LIM-type (5);	0.051961	0.64402	D	0.000002	T	0.79857	0.4518	L	0.28458	0.855	0.39248	D	0.963978	B;B;B;B	0.25206	0.006;0.12;0.102;0.12	B;B;B;B	0.24541	0.013;0.054;0.047;0.054	T	0.76892	-0.2791	10	0.33141	T	0.24	.	12.0453	0.53477	0.0918:0.0:0.9082:0.0	.	73;60;60;44	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	H	44;44;24;44;44;44;44;44;44;44;44;84;44;44;73;60;60;60;44	ENSP00000377710:R44H;ENSP00000359724:R44H;ENSP00000391779:R44H;ENSP00000389920:R44H;ENSP00000444815:R44H;ENSP00000408038:R44H;ENSP00000413798:R44H;ENSP00000443333:R44H;ENSP00000377709:R44H;ENSP00000412642:R44H;ENSP00000414604:R44H;ENSP00000071281:R44H;ENSP00000437673:R73H;ENSP00000359717:R60H;ENSP00000359710:R60H;ENSP00000359708:R44H	ENSP00000071281:R44H	R	+	2	0	FHL1	135116388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.002000	0.40835	2.270000	0.75569	0.600000	0.82982	CGC		0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		4	89	0	0	0	1	0	4	89				
LAMC1	3915	broad.mit.edu	37	1	183099545	183099545	+	Missense_Mutation	SNP	G	G	A	rs548688323		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:183099545G>A	ENST00000258341.4	+	19	3604	c.3347G>A	c.(3346-3348)cGt>cAt	p.R1116H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1116	Domain II and I.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1116H(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CAAATTAGCCGTTTACAGAAT	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20388	0.0		0.0	False		,,,				2504	0.0					ENST00000258341.4																			1	Substitution - Missense(1)	p.R1116H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3346-3348)cGt>cAt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						90.0	85.0	87.0					1																	183099545		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183099545G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3347G>A	1.37:g.183099545G>A	ENSP00000258341:p.Arg1116His						p.R1116H	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			19	3604	+			1116		R -> H (in a colorectal cancer sample; somatic mutation).	Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3347G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758222	0.89843	.	.	ENSG00000135862	ENST00000258341	T	0.22134	1.97	4.94	4.94	0.65067	.	0.051539	0.64402	D	0.000001	T	0.42063	0.1186	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.23833	-1.0177	10	0.11794	T	0.64	.	18.1104	0.89533	0.0:0.0:1.0:0.0	.	1116	P11047	LAMC1_HUMAN	H	1116	ENSP00000258341:R1116H	ENSP00000258341:R1116H	R	+	2	0	LAMC1	181366168	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.171000	0.89675	2.442000	0.82660	0.561000	0.74099	CGT		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		10	67	0	0	0	1	0	10	67				
BATF	10538	broad.mit.edu	37	14	76012949	76012949	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:76012949G>A	ENST00000286639.6	+	3	571	c.313G>A	c.(313-315)Gag>Aag	p.E105K	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	105					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CTCGCCCCCCGAGGTGGTGTA	0.657																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(313-315)Gag>Aag		basic leucine zipper transcription factor, ATF-like							37.0	28.0	31.0					14																	76012949		2200	4300	6500	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012949G>A	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.313G>A	14.37:g.76012949G>A	ENSP00000286639:p.Glu105Lys					BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	p.E105K	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	571	+			105						Missense_Mutation	SNP	ENST00000286639.6	37	c.313G>A	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650912	0.67472	.	.	ENSG00000156127	ENST00000286639	T	0.78481	-1.18	5.33	5.33	0.75918	.	0.153676	0.56097	D	0.000025	T	0.64114	0.2569	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.39419	0.299	T	0.64141	-0.6477	10	0.11485	T	0.65	-1.5992	17.2289	0.86979	0.0:0.0:1.0:0.0	.	105	Q16520	BATF_HUMAN	K	105	ENSP00000286639:E105K	ENSP00000286639:E105K	E	+	1	0	BATF	75082702	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.127000	0.89593	2.495000	0.84180	0.655000	0.94253	GAG		0.657	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		8	16	0	0	0	1	0	8	16				
GAA	2548	broad.mit.edu	37	17	78083827	78083827	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:78083827C>T	ENST00000302262.3	+	9	1629	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	GAA_ENST00000390015.3_Silent_p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	470					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TCATCACCAACGAGACCGGCC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1408-1410)aaC>aaT		glucosidase, alpha; acid	Acarbose(DB00284)						31.0	37.0	35.0					17																	78083827		2200	4300	6500	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083827C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1410C>T	17.37:g.78083827C>T						GAA_ENST00000390015.3_Silent_p.N470N	p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1629	+	all_neural(118;0.117)		470					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1410C>T	CCDS32760.1																																																																																				0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			18	42	0	0	0	1	0	18	42				
CORO7	79585	broad.mit.edu	37	16	4408410	4408410	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:4408410C>T	ENST00000251166.4	-	24	2560	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q	PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	805					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGGAGGACTGACGCAGCC	0.697																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2413-2415)caG>caA		coronin 7							29.0	30.0	30.0					16																	4408410		2196	4295	6491	SO:0001819	synonymous_variant	79585							g.chr16:4408410C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2415G>A	16.37:g.4408410C>T						CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7-PAM16_ENST00000572274.1_5'UTR	p.Q805Q	NM_024535.4	NP_078811.3					24	2560	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2415G>A	CCDS10513.1																																																																																				0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		9	15	0	0	0	1	0	9	15				
TRHDE	29953	broad.mit.edu	37	12	73046874	73046874	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:73046874T>A	ENST00000261180.4	+	17	2883	c.2787T>A	c.(2785-2787)aaT>aaA	p.N929K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	929					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGCTCGAAATCCACATGGTC	0.353																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2785-2787)aaT>aaA		thyrotropin-releasing hormone degrading enzyme							86.0	83.0	84.0					12																	73046874		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046874T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2787T>A	12.37:g.73046874T>A	ENSP00000261180:p.Asn929Lys						p.N929K	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			17	2883	+			929					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2787T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261817	0.80358	.	.	ENSG00000072657	ENST00000261180	T	0.06849	3.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04029	-1.0983	10	0.54805	T	0.06	.	9.9807	0.41811	0.0:0.0755:0.0:0.9245	.	929	Q9UKU6	TRHDE_HUMAN	K	929	ENSP00000261180:N929K	ENSP00000261180:N929K	N	+	3	2	TRHDE	71333141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.765000	0.55272	2.087000	0.62958	0.533000	0.62120	AAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		25	25	0	0	0	1	0	25	25				
NLRP12	91662	broad.mit.edu	37	19	54314500	54314500	+	Missense_Mutation	SNP	C	C	T	rs534882841		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:54314500C>T	ENST00000324134.6	-	3	581	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCATGAGCCGGAATTTCCT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16501	0.0		0.0	False		,,,				2504	0.0					ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(412-414)cGg>cAg		NLR family, pyrin domain containing 12							89.0	87.0	87.0					19																	54314500		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314500C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.413G>A	19.37:g.54314500C>T	ENSP00000319377:p.Arg138Gln					NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q	p.R138Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	581	-	Ovarian(34;0.19)		138					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.413G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741215	0.15642	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	4.47	-0.42	0.12336	.	0.192676	0.25601	N	0.029547	T	0.66963	0.2843	N	0.25890	0.77	0.50313	D	0.999864	P;B;B;B	0.35050	0.482;0.246;0.246;0.293	B;B;B;B	0.18871	0.023;0.013;0.013;0.017	T	0.56956	-0.7893	10	0.10636	T	0.68	.	3.9174	0.09228	0.158:0.4792:0.0:0.3627	.	138;138;138;138	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Q	138	ENSP00000319377:R138Q;ENSP00000438030:R138Q;ENSP00000340473:R138Q;ENSP00000346231:R138Q;ENSP00000375655:R138Q;ENSP00000375653:R138Q;ENSP00000375652:R138Q	ENSP00000319377:R138Q	R	-	2	0	NLRP12	59006312	0.000000	0.05858	0.844000	0.33320	0.862000	0.49288	-0.171000	0.09883	-0.134000	0.11516	0.306000	0.20318	CGG		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		12	127	0	0	0	1	0	12	127				
TGDS	23483	broad.mit.edu	37	13	95235377	95235377	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:95235377C>T	ENST00000261296.5	-	5	547	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	143					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATACTTCATCTGTGCTGACA	0.373																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(427-429)Gat>Aat		TDP-glucose 4,6-dehydratase							150.0	139.0	142.0					13																	95235377		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95235377C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.427G>A	13.37:g.95235377C>T	ENSP00000261296:p.Asp143Asn					TGDS_ENST00000498294.1_5'UTR	p.D143N	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			5	547	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		143					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.427G>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127495	0.94473	.	.	ENSG00000088451	ENST00000261296	D	0.93659	-3.26	5.76	5.76	0.90799	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.107609	0.64402	D	0.000007	D	0.98128	0.9382	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98623	1.0668	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	143	O95455	TGDS_HUMAN	N	143	ENSP00000261296:D143N	ENSP00000261296:D143N	D	-	1	0	TGDS	94033378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.947000	0.70242	2.882000	0.98803	0.655000	0.94253	GAT		0.373	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		24	45	0	0	0	1	0	24	45				
SETD2	29072	broad.mit.edu	37	3	47103836	47103836	+	Splice_Site	SNP	G	G	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:47103836G>C	ENST00000409792.3	-	14	6152	c.6110C>G	c.(6109-6111)aCa>aGa	p.T2037R	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2037					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGTTCAGTTGCTAAGGGAAA	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e14-1		SET domain containing 2							181.0	183.0	182.0					3																	47103836		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103836G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6110-1C>G	3.37:g.47103836G>C						SETD2_ENST00000492397.1_5'UTR	p.T2037_splice	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6152	-		Acute lymphoblastic leukemia(5;0.0169)	2037					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.6109_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	5.763	0.325142	0.10900	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.87887	-2.31	4.77	0.95	0.19572	.	0.965558	0.08488	N	0.938463	T	0.67906	0.2943	N	0.03608	-0.345	0.27428	N	0.9541	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55698	-0.8100	10	0.12103	T	0.63	.	6.5005	0.22166	0.4809:0.0:0.519:0.0	.	2037;2037	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	2037	ENSP00000386759:T2037R	ENSP00000386759:T2037R	T	-	2	0	SETD2	47078840	1.000000	0.71417	0.994000	0.49952	0.130000	0.20726	1.374000	0.34283	0.412000	0.25729	-0.693000	0.03709	ACA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Missense_Mutation	58	97	0	0	0	1	0	58	97				
FKBP9	11328	broad.mit.edu	37	7	33020059	33020059	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:33020059G>C	ENST00000242209.4	+	5	956	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	263					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATTTCCATTGAGAACAAGGT	0.468																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(787-789)Gag>Cag		FK506 binding protein 9, 63 kDa							150.0	140.0	144.0					7																	33020059		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020059G>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.787G>C	7.37:g.33020059G>C	ENSP00000242209:p.Glu263Gln					FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR	p.E263Q	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	956	+			263					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.787G>C	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581244	0.46006	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.55588	0.51;0.82;0.51;0.91;0.91	5.06	5.06	0.68205	.	0.113216	0.64402	D	0.000012	T	0.58850	0.2151	M	0.62088	1.915	0.47183	D	0.999348	P;P;B;P	0.43885	0.454;0.82;0.386;0.745	B;P;B;B	0.47626	0.079;0.552;0.175;0.28	T	0.54984	-0.8211	10	0.20046	T	0.44	-12.2962	18.4263	0.90610	0.0:0.0:1.0:0.0	.	31;316;263;263	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	Q	263;316;125;31;31	ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q	ENSP00000242209:E263Q	E	+	1	0	FKBP9	32986584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	2.362000	0.80069	0.650000	0.86243	GAG		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		55	66	0	0	0	1	0	55	66				
TSHZ2	128553	broad.mit.edu	37	20	51871509	51871509	+	Silent	SNP	A	A	G	rs577689630		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:51871509A>G	ENST00000371497.5	+	2	2399	c.1512A>G	c.(1510-1512)gaA>gaG	p.E504E	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.E501E|TSHZ2_ENST00000603338.2_Silent_p.E501E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	504					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGGGAGGAAGACTTGGAAG	0.448													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.0					ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1510-1512)gaA>gaG		teashirt zinc finger homeobox 2							65.0	70.0	68.0					20																	51871509		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871509A>G	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1512A>G	20.37:g.51871509A>G						TSHZ2_ENST00000329613.6_Silent_p.E501E|TSHZ2_ENST00000603338.2_Silent_p.E501E	p.E504E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2399	+			504					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1512A>G	CCDS33490.1																																																																																				0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		3	63	0	0	0	1	0	3	63				
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1480-1482)gCg>gTg		DNA nucleotidylexotransferase							119.0	118.0	119.0					10																	98097935		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097935C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val					DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	p.A494V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1651	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	495			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1481C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG		0.333	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		3	50	0	0	0	1	0	3	50				
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						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)		CGAGACATTGCGCCCCCAGCT	0.502																																						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.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	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.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		6	904	0	0	0	1	0	6	904				
DNAH9	1770	broad.mit.edu	37	17	11543597	11543597	+	Silent	SNP	G	G	A	rs201962543		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:11543597G>A	ENST00000262442.4	+	10	1865	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	DNAH9_ENST00000454412.2_Silent_p.P599P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	599	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCTCCCCGGTGCACAAGA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18464	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1795-1797)ccG>ccA		dynein, axonemal, heavy chain 9		G		1,4405	2.1+/-5.4	0,1,2202	131.0	124.0	127.0		1797	-10.8	0.0	17		127	0,8600		0,0,4300	no	coding-synonymous	DNAH9	NM_001372.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		599/4487	11543597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11543597G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1797G>A	17.37:g.11543597G>A						DNAH9_ENST00000454412.2_Silent_p.P599P	p.P599P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	10	1865	+		Breast(5;0.0122)|all_epithelial(5;0.131)	599			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1797G>A	CCDS11160.1																																																																																				0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	123	0	0	0	1	0	13	123				
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450|rs143611048|rs79156963	byFrequency	TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	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		2	4						2	4	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	p.S187del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			7	71						7	71	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		4	5						4	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGTCCCAGTTGGTATGTTGAA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6874-6876)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						86.0	81.0	83.0					X																	76777841		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76777841delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6875delC	X.37:g.76777841delG	ENSP00000362441:p.Pro2292fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	p.P2292fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			32	7089	-			2292					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6875delC	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		59	29						59	29	---	---	---	---
