#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
VWA5A	4013	broad.mit.edu	37	11	123989697	123989697	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	ENST00000456829.2	+	7	912	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R|VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R|VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	221										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGGCTGCTGGACACAAGTT	0.522																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(661-663)Gga>Aga		von Willebrand factor A domain containing 5A							120.0	93.0	102.0					11																	123989697		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123989697G>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.661G>A	11.37:g.123989697G>A	ENSP00000407726:p.Gly221Arg					VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R|VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R	p.G221R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			7	912	+			221					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.661G>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793329	0.90453	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.26223	3.54;1.75;3.54;2.1;2.1;2.08	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	T	0.48479	-0.9032	10	0.31617	T	0.26	-16.5748	17.3833	0.87410	0.0:0.0:1.0:0.0	.	237;221	B4DHS6;O00534	.;VMA5A_HUMAN	R	221;221;221;221;221;221;221;237	ENSP00000407726:G221R;ENSP00000353485:G221R;ENSP00000376504:G221R;ENSP00000355070:G221R;ENSP00000404683:G221R;ENSP00000376501:G237R	ENSP00000353485:G221R	G	+	1	0	VWA5A	123494907	1.000000	0.71417	0.988000	0.46212	0.815000	0.46073	6.320000	0.72876	2.705000	0.92388	0.650000	0.86243	GGA		0.522	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		3	52	0	0	0	1	0	3	52				
FAM209A	200232	broad.mit.edu	37	20	55101032	55101032	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:55101032G>A	ENST00000371328.3	+	2	745	c.422G>A	c.(421-423)aGt>aAt	p.S141N	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'Flank	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	141						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GCAACAGGTAGTGGCAGTAAC	0.448																																						ENST00000371328.3																			0											c.(421-423)aGt>aAt		family with sequence similarity 209, member A							115.0	104.0	108.0					20																	55101032		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55101032G>A	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.422G>A	20.37:g.55101032G>A	ENSP00000360379:p.Ser141Asn					FAM209A_ENST00000481560.1_3'UTR	p.S141N	NM_001012971.3	NP_001012989.2					2	745	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.422G>A	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672085	0.00758	.	.	ENSG00000124103	ENST00000371328	T	0.11712	2.75	0.158	-0.317	0.12736	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.51866	0.682	T	0.17440	-1.0369	8	0.15066	T	0.55	.	.	.	.	.	141	Q5JX71	CT106_HUMAN	N	141	ENSP00000360379:S141N	ENSP00000360379:S141N	S	+	2	0	C20orf106	54534439	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.542000	0.06091	-1.029000	0.03317	-1.021000	0.02439	AGT		0.448	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			5	92	0	0	0	1	0	5	92				
KCNU1	157855	broad.mit.edu	37	8	36642081	36642081	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	ENST00000399881.3	+	1	190	c.153T>C	c.(151-153)tcT>tcC	p.S51S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	51					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGAGATCTGTTAAAAAAT	0.438																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(151-153)tcT>tcC		potassium channel, subfamily U, member 1							129.0	116.0	120.0					8																	36642081		1912	4133	6045	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642081T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.153T>C	8.37:g.36642081T>C							p.S51S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	190	+			51						Silent	SNP	ENST00000399881.3	37	c.153T>C	CCDS55220.1																																																																																				0.438	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	33	0	0	0	1	0	4	33				
KIAA0922	23240	broad.mit.edu	37	4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	ENST00000409663.3	+	28	3783	c.3731T>A	c.(3730-3732)tTt>tAt	p.F1244Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.F1245Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1244						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3733-3735)tTt>tAt		KIAA0922							145.0	136.0	139.0					4																	154542876		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542876T>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3731T>A	4.37:g.154542876T>A	ENSP00000386574:p.Phe1244Tyr					KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F1244Y	p.F1245Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			28	3783	+	all_hematologic(180;0.093)	Renal(120;0.118)	1244					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3734T>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901841	0.17760	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18502	2.48;2.21;2.48;2.21	5.13	3.91	0.45181	.	1.296400	0.04557	N	0.390999	T	0.13372	0.0324	L	0.33485	1.01	0.09310	N	1	B;B;B	0.28082	0.2;0.005;0.003	B;B;B	0.28465	0.09;0.011;0.005	T	0.32903	-0.9889	10	0.02654	T	1	-2.2201	8.3297	0.32178	0.1308:0.0:0.1368:0.7324	.	1161;1245;1244	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1244;1161;1245;1022	ENSP00000386574:F1244Y;ENSP00000409663:F1161Y;ENSP00000386787:F1245Y;ENSP00000240487:F1022Y	ENSP00000240487:F1022Y	F	+	2	0	KIAA0922	154762326	0.993000	0.37304	0.001000	0.08648	0.581000	0.36288	2.599000	0.46231	0.754000	0.32968	0.533000	0.62120	TTT		0.433	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		8	54	0	0	0	1	0	8	54				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	83	0	0	0	1	0	3	83				
DCHS2	54798	broad.mit.edu	37	4	155163900	155163900	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	ENST00000357232.4	-	22	5600	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1867	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCATCCCTTTATCTGTGG	0.378																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5599-5601)aaA>aaG		dachsous cadherin-related 2							103.0	98.0	100.0					4																	155163900		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155163900T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5601A>G	4.37:g.155163900T>C							p.K1867K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	22	5600	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1867			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5601A>G	CCDS3785.1																																																																																				0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	64	0	0	0	1	0	3	64				
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(991-993)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		G	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	94.0	101.0		993,717,993	-7.0	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343337G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A						DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|DPCD_ENST00000416979.2_Intron	p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1487	-		Colorectal(252;0.234)	331					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.993C>T	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		6	78	0	0	0	1	0	6	78				
RIC3	79608	broad.mit.edu	37	11	8148216	8148216	+	Missense_Mutation	SNP	C	C	A	rs186081938	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:8148216C>A	ENST00000309737.6	-	5	659	c.660G>T	c.(658-660)gaG>gaT	p.E220D	RIC3_ENST00000425599.2_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_Missense_Mutation_p.E58D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	220					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTTCCCAGTCCTCCATGTAAG	0.403																																						ENST00000396677.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(172-174)gaG>gaT		RIC3 acetylcholine receptor chaperone							107.0	100.0	102.0					11																	8148216		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8148216C>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.660G>T	11.37:g.8148216C>A	ENSP00000308820:p.Glu220Asp					RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D|RIC3_ENST00000309737.6_Missense_Mutation_p.E220D|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D	p.E58D			Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	173	-			220					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.174G>T	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924736	0.52653	.	.	ENSG00000166405	ENST00000396677;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000531450	T;T;T;T	0.35421	1.33;1.33;1.34;1.31	5.48	1.39	0.22231	.	0.000000	0.64402	D	0.000001	T	0.49932	0.1586	M	0.73598	2.24	0.44067	D	0.996815	D;D;D;D	0.69078	0.978;0.99;0.99;0.997	P;P;P;P	0.61800	0.811;0.737;0.737;0.894	T	0.42816	-0.9429	10	0.23891	T	0.37	.	10.1037	0.42519	0.0:0.4758:0.0:0.5242	.	248;220;219;58	B7Z1U4;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;RIC3_HUMAN;.;.	D	58;219;220;248;171;248	ENSP00000344904:E219D;ENSP00000308820:E220D;ENSP00000443871:E171D;ENSP00000431658:E248D	ENSP00000308820:E220D	E	-	3	2	RIC3	8104792	0.008000	0.16893	0.999000	0.59377	0.995000	0.86356	-1.457000	0.02374	0.058000	0.16222	-0.140000	0.14226	GAG		0.403	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		3	65	1	0	1	1	1	3	65				
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					ENST00000332857.6																			0											c.(928-930)tgT>tgC		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730							g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G							p.C310C	NM_001145196.1	NP_001138668.1					4	958	-									Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		56	264	0	0	0	1	0	56	264				
DNAH2	146754	broad.mit.edu	37	17	7708392	7708392	+	Splice_Site	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	ENST00000572933.1	+	60	10760	c.9300G>A	c.(9298-9300)cgG>cgA	p.R3100R	DNAH2_ENST00000389173.2_Splice_Site_p.R3100R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3100	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.e60+1		dynein, axonemal, heavy chain 2							47.0	54.0	52.0					17																	7708392		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708392G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9300+1G>A	17.37:g.7708392G>A						DNAH2_ENST00000389173.2_Splice_Site_p.R3100_splice	p.R3100_splice			Q9P225	DYH2_HUMAN			60	10760	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3100			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	c.9300_splice	CCDS32551.1																																																																																				0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Silent	3	67	0	0	0	1	0	3	67				
ACSM2A	123876	broad.mit.edu	37	16	20471589	20471589	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:20471589G>T	ENST00000573854.1	+	2	267	c.153G>T	c.(151-153)ttG>ttT	p.L51F	ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	51					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGATGTGTTGGATCACTGGG	0.453																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(151-153)ttG>ttT		acyl-CoA synthetase medium-chain family member 2A							56.0	53.0	54.0					16																	20471589		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471589G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.153G>T	16.37:g.20471589G>T	ENSP00000459451:p.Leu51Phe					ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F	p.L51F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			2	267	+			51					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.153G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864876	0.32977	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.51817	0.69;0.69;0.69	3.81	-0.843	0.10744	.	1.423280	0.04447	N	0.371987	T	0.28962	0.0719	N	0.20445	0.575	0.26078	N	0.981121	B	0.22080	0.064	B	0.20184	0.028	T	0.13045	-1.0524	10	0.19147	T	0.46	-0.1018	4.066	0.09861	0.3357:0.1774:0.4868:0.0	.	51	Q08AH3	ACS2A_HUMAN	F	51	ENSP00000219054:L51F;ENSP00000394904:L51F;ENSP00000379411:L51F	ENSP00000219054:L51F	L	+	3	2	ACSM2A	20379090	0.203000	0.23435	0.666000	0.29783	0.927000	0.56198	-0.345000	0.07770	-0.093000	0.12396	0.454000	0.30748	TTG		0.453	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	57	1	0	0.217242	1	0.224139	4	57				
TANGO6	79613	broad.mit.edu	37	16	68900994	68900994	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:68900994G>A	ENST00000261778.1	+	4	877	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	289						integral component of membrane (GO:0016021)											CTGCACAGATGTGAAGACACA	0.473																																						ENST00000261778.1																			0											c.(865-867)Gtg>Atg		transport and golgi organization 6 homolog (Drosophila)							93.0	91.0	92.0					16																	68900994		1909	4128	6037	SO:0001583	missense	79613							g.chr16:68900994G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.865G>A	16.37:g.68900994G>A	ENSP00000261778:p.Val289Met						p.V289M	NM_024562.1	NP_078838.1					4	877	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.865G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385210	0.42308	.	.	ENSG00000103047	ENST00000261778	T	0.70516	-0.49	5.83	2.8	0.32819	.	.	.	.	.	T	0.59582	0.2204	L	0.44542	1.39	0.09310	N	1	P;P	0.44877	0.845;0.681	B;B	0.37601	0.254;0.254	T	0.48019	-0.9071	9	0.41790	T	0.15	0.4752	10.6683	0.45743	0.2157:0.0:0.7843:0.0	.	289;128	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	M	289	ENSP00000261778:V289M	ENSP00000261778:V289M	V	+	1	0	TMCO7	67458495	0.037000	0.19845	0.028000	0.17463	0.169000	0.22640	0.953000	0.29162	0.817000	0.34445	-0.145000	0.13849	GTG		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		38	78	0	0	0	1	0	38	78				
CLDN7	1366	broad.mit.edu	37	17	7163696	7163696	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	ENST00000360325.7	-	4	1067	c.633G>A	c.(631-633)gtG>gtA	p.V211V	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Silent_p.V211V	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	211	Interactions with TJP1, TJP2 and TJP3. {ECO:0000250}.				calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597																																						ENST00000360325.7																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(631-633)gtG>gtA		claudin 7							105.0	88.0	94.0					17																	7163696		2203	4300	6503	SO:0001819	synonymous_variant	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163696C>T	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.633G>A	17.37:g.7163696C>T						CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000397317.4_Silent_p.V211V|RP1-4G17.5_ENST00000577138.1_Intron	p.V211V	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN			4	1067	-			211			Interactions with TJP1, TJP2 and TJP3 (By similarity).		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	c.633G>A	CCDS11096.1																																																																																				0.597	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		7	153	0	0	0	1	0	7	153				
CORO2A	7464	broad.mit.edu	37	9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	ENST00000343933.5	-	4	587	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(328-330)tgG>tgT		coronin, actin binding protein, 2A							75.0	65.0	68.0					9																	100897226		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897226C>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.330G>T	9.37:g.100897226C>A	ENSP00000343746:p.Trp110Cys					CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	587	-		Acute lymphoblastic leukemia(62;0.0559)	110					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.330G>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277856	0.80692	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	D;D	0.83506	-1.73;-1.73	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97103	0.9799	10	0.87932	D	0	-16.6329	18.0377	0.89309	0.0:1.0:0.0:0.0	.	110	Q92828	COR2A_HUMAN	C	110	ENSP00000343746:W110C;ENSP00000364218:W110C	ENSP00000343746:W110C	W	-	3	0	CORO2A	99937047	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.263000	0.78421	2.802000	0.96397	0.650000	0.86243	TGG		0.632	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		22	52	1	0	7.88262e-20	1	9.14947e-20	22	52				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	69	0	0	0	1	0	3	69				
FBXO40	51725	broad.mit.edu	37	3	121340407	121340407	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	ENST00000338040.4	+	3	545	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	44					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(130-132)gCc>gGc		F-box protein 40							96.0	85.0	89.0					3																	121340407		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340407C>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.131C>G	3.37:g.121340407C>G	ENSP00000337510:p.Ala44Gly						p.A44G	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	545	+			44					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.131C>G	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836251	0.71373	.	.	ENSG00000163833	ENST00000338040	T	0.40476	1.03	5.58	5.58	0.84498	.	0.050714	0.85682	D	0.000000	T	0.68531	0.3011	M	0.83603	2.65	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.72877	-0.4159	10	0.87932	D	0	-12.7349	17.0656	0.86558	0.0:1.0:0.0:0.0	.	44	Q9UH90	FBX40_HUMAN	G	44	ENSP00000337510:A44G	ENSP00000337510:A44G	A	+	2	0	FBXO40	122823097	1.000000	0.71417	0.416000	0.26546	0.898000	0.52572	7.792000	0.85828	2.644000	0.89710	0.655000	0.94253	GCC		0.572	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		9	109	0	0	0	1	0	9	109				
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:62839350G>A	ENST00000328439.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000536311.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(799-801)gaG>gaA		myelin transcription factor 1							19.0	19.0	19.0					20																	62839350		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839350G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.801G>A	20.37:g.62839350G>A						MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	p.E267E			Q01538	MYT1_HUMAN			7	1165	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		267			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.801G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	10	0	0	0	1	0	3	10				
CHD7	55636	broad.mit.edu	37	8	61735226	61735226	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	ENST00000423902.2	+	12	3601	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1041	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGACAGAGTTGAACGTGGTT	0.433																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3121-3123)tTg>tGg		chromodomain helicase DNA binding protein 7							189.0	184.0	185.0					8																	61735226		1887	4112	5999	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735226T>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3122T>G	8.37:g.61735226T>G	ENSP00000392028:p.Leu1041Trp					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W	p.L1041W	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3601	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1041			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3122T>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605143	0.87157	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.95272	-3.66;-3.66	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000006	D	0.97955	0.9327	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	D	0.99146	1.0857	10	0.87932	D	0	-12.0916	15.9509	0.79835	0.0:0.0:0.0:1.0	.	1041;1041	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	W	1041	ENSP00000392028:L1041W;ENSP00000436027:L1041W	ENSP00000307304:L1041W	L	+	2	0	CHD7	61897780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	TTG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	201	0	0	0	1	0	6	201				
LAMC3	10319	broad.mit.edu	37	9	133917071	133917071	+	Missense_Mutation	SNP	G	G	T	rs143849259		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:133917071G>T	ENST00000361069.4	+	7	1464	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	444	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCCCCGCAGTGGGCGC	0.547																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1330-1332)cGc>cTc		laminin, gamma 3							51.0	46.0	47.0					9																	133917071		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917071G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1331G>T	9.37:g.133917071G>T	ENSP00000354360:p.Arg444Leu					LAMC3_ENST00000480883.1_3'UTR	p.R444L	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	7	1464	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	444			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1331G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089730	0.36855	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61392	0.11	4.97	-2.77	0.05877	EGF-like, laminin (3);	1.001280	0.08053	N	0.996869	T	0.40719	0.1128	N	0.25380	0.74	0.09310	N	0.999991	B	0.14805	0.011	B	0.19666	0.026	T	0.28004	-1.0057	10	0.30078	T	0.28	.	8.6405	0.33974	0.6478:0.1253:0.227:0.0	.	444	Q9Y6N6	LAMC3_HUMAN	L	444	ENSP00000354360:R444L	ENSP00000325873:R444L	R	+	2	0	LAMC3	132906892	0.000000	0.05858	0.910000	0.35882	0.975000	0.68041	-0.017000	0.12590	-0.688000	0.05155	-0.362000	0.07510	CGC		0.547	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	62	1	0	1	1	1	3	62				
KIAA0226	9711	broad.mit.edu	37	3	197408183	197408183	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:197408183G>A	ENST00000296343.5	-	16	2246	c.2247C>T	c.(2245-2247)tgC>tgT	p.C749C	KIAA0226_ENST00000273582.5_Silent_p.C704C|KIAA0226_ENST00000389665.5_Silent_p.C774C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	749					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGGCAGCACTGGCAGA	0.527																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2110-2112)tgC>tgT		KIAA0226							85.0	84.0	84.0					3																	197408183		2005	4186	6191	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408183G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2247C>T	3.37:g.197408183G>A						KIAA0226_ENST00000389665.5_Silent_p.C774C|KIAA0226_ENST00000296343.5_Silent_p.C749C	p.C704C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	17	2657	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		749					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2112C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364573	0.24684	.	.	ENSG00000145016	ENST00000415452	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	T	0.69735	0.3144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69083	-0.5239	4	.	.	.	.	14.0351	0.64640	0.0733:0.0:0.9267:0.0	.	.	.	.	V	533	.	.	A	-	2	0	KIAA0226	198892580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.271000	0.43364	1.441000	0.47550	0.650000	0.86243	GCT		0.527	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		4	149	0	0	0	1	0	4	149				
HAS1	3036	broad.mit.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	ENST00000222115.1	-	3	800	c.766G>A	c.(766-768)Gag>Aag	p.E256K	HAS1_ENST00000601714.1_Missense_Mutation_p.E263K|HAS1_ENST00000540069.2_Missense_Mutation_p.E255K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	256					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(763-765)Gag>Aag		hyaluronan synthase 1							74.0	73.0	73.0					19																	52220383		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220383C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.766G>A	19.37:g.52220383C>T	ENSP00000222115:p.Glu256Lys					HAS1_ENST00000222115.1_Missense_Mutation_p.E256K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K|HAS1_ENST00000601714.1_Missense_Mutation_p.E263K	p.E255K			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	823	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	256					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.763G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990226	0.35131	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59638	0.25;0.25	4.32	4.32	0.51571	.	0.344745	0.29544	U	0.011842	T	0.35335	0.0928	N	0.20807	0.61	0.25133	N	0.990553	P;P;P	0.43412	0.589;0.806;0.806	B;B;B	0.33690	0.105;0.168;0.168	T	0.25117	-1.0141	10	0.33940	T	0.23	-13.7537	10.0815	0.42393	0.2009:0.7991:0.0:0.0	.	255;256;255	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	255;256;113;110	ENSP00000445021:E255K;ENSP00000222115:E256K	ENSP00000222115:E256K	E	-	1	0	HAS1	56912195	0.005000	0.15991	0.999000	0.59377	0.665000	0.39181	1.869000	0.39519	2.133000	0.65898	0.489000	0.48404	GAG		0.622	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		13	69	0	0	0	1	0	13	69				
CLIC4	25932	broad.mit.edu	37	1	25140630	25140630	+	Silent	SNP	A	A	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	ENST00000374379.4	+	3	425	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	76	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(226-228)ccA>ccG		chloride intracellular channel 4							78.0	83.0	81.0					1																	25140630		2203	4300	6503	SO:0001819	synonymous_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25140630A>G	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.228A>G	1.37:g.25140630A>G						CLIC4_ENST00000497755.1_3'UTR	p.P76P	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	3	425	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	76			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	c.228A>G	CCDS256.1																																																																																				0.398	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		12	69	0	0	0	1	0	12	69				
GEMIN6	79833	broad.mit.edu	37	2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	ENST00000281950.3	+	3	291	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	59					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443																																						ENST00000281950.2																			0				kidney(1)|large_intestine(3)|pancreas(1)	5						c.(175-177)Gga>Aga		gem (nuclear organelle) associated protein 6							109.0	106.0	107.0					2																	39008705		2203	4300	6503	SO:0001583	missense	79833				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr2:39008705G>A	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.175G>A	2.37:g.39008705G>A	ENSP00000281950:p.Gly59Arg					GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	p.G59R	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN			3	291	+		all_hematologic(82;0.21)	59					B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	c.175G>A	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852784	0.91355	.	.	ENSG00000152147	ENST00000281950	T	0.48201	0.82	5.52	5.52	0.82312	.	0.110731	0.64402	D	0.000013	T	0.59609	0.2206	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.52457	-0.8573	10	0.28530	T	0.3	-23.4025	19.0196	0.92908	0.0:0.0:1.0:0.0	.	59	Q8WXD5	GEMI6_HUMAN	R	59	ENSP00000281950:G59R	ENSP00000281950:G59R	G	+	1	0	GEMIN6	38862209	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	5.998000	0.70653	2.604000	0.88044	0.591000	0.81541	GGA		0.443	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			35	100	0	0	0	1	0	35	100				
KANK3	256949	broad.mit.edu	37	19	8398111	8398111	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	ENST00000593649.1	-	7	1788	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_ENST00000330915.3_Missense_Mutation_p.A575T			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1723-1725)Gca>Aca		KN motif and ankyrin repeat domains 3							17.0	18.0	17.0					19																	8398111		2195	4290	6485	SO:0001583	missense	256949							g.chr19:8398111C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1723G>A	19.37:g.8398111C>T	ENSP00000470728:p.Ala575Thr					KANK3_ENST00000593649.1_Missense_Mutation_p.A575T	p.A575T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			7	1788	-			575					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.1723G>A		.	.	.	.	.	.	.	.	.	.	C	15.31	2.794662	0.50102	.	.	ENSG00000186994	ENST00000330915;ENST00000381056	T	0.28454	1.61	4.52	3.43	0.39272	.	.	.	.	.	T	0.21841	0.0526	L	0.54323	1.7	0.26321	N	0.977677	P	0.43314	0.803	B	0.32533	0.147	T	0.14448	-1.0472	9	0.36615	T	0.2	-20.8819	5.4418	0.16513	0.0:0.812:0.0:0.188	.	575	Q6NY19-2	.	T	575;119	ENSP00000328923:A575T	ENSP00000328923:A575T	A	-	1	0	KANK3	8304111	0.015000	0.18098	0.933000	0.37362	0.134000	0.20937	1.468000	0.35332	2.331000	0.79229	0.448000	0.29417	GCA		0.697	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	33	0	0	0	1	0	3	33				
GPR162	27239	broad.mit.edu	37	12	6933475	6933475	+	Silent	SNP	C	C	T	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	ENST00000311268.3	+	2	1198	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(409-411)gcC>gcT		G protein-coupled receptor 162							91.0	77.0	82.0					12																	6933475		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933475C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.411C>T	12.37:g.6933475C>T						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	p.A137A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1198	+			137					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.411C>T	CCDS8563.1																																																																																				0.617	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		28	51	0	0	0	1	0	28	51				
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		178	Substitution - Missense(178)	p.E545A(96)|p.E545G(78)|p.E545V(4)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)gAg>gGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936092		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936092A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>G	3.37:g.178936092A>G	ENSP00000263967:p.Glu545Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545G	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1791	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1634A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704887	0.88924	.	.	ENSG00000121879	ENST00000263967	T	0.64438	-0.1	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.76675	-0.2872	10	0.41790	T	0.15	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	G	545	ENSP00000263967:E545G	ENSP00000263967:E545G	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	49	0	0	0	1	0	4	49				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	58	0	0	0	1	0	29	58				
ATN1	1822	broad.mit.edu	37	12	7048208	7048208	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	ENST00000356654.4	+	7	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1028					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.A1028S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGGCAGCACGCAGAAAGGGT	0.662																																						ENST00000356654.4																			1	Substitution - Missense(1)	p.A1028S(1)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3082-3084)Gca>Aca		atrophin 1							52.0	48.0	49.0					12																	7048208		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048208G>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3082G>A	12.37:g.7048208G>A	ENSP00000349076:p.Ala1028Thr					ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3319	+			1028					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.3082G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638389	0.67130	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56275	0.47;0.47;0.47	4.85	3.94	0.45596	.	0.242144	0.21130	N	0.079673	T	0.62282	0.2415	L	0.33339	1.005	0.37660	D	0.92275	D	0.76494	0.999	D	0.74023	0.982	T	0.70517	-0.4850	10	0.87932	D	0	.	15.4351	0.75140	0.0:0.1396:0.8604:0.0	.	1028	P54259	ATN1_HUMAN	T	1028;1028;1028;613	ENSP00000349076:A1028T;ENSP00000379915:A1028T;ENSP00000441744:A1028T	ENSP00000229279:A613T	A	+	1	0	ATN1	6918469	1.000000	0.71417	0.393000	0.26258	0.771000	0.43674	6.319000	0.72871	1.377000	0.46286	0.655000	0.94253	GCA		0.662	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		4	109	0	0	0	1	0	4	109				
KDM6B	23135	broad.mit.edu	37	17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	ENST00000448097.2	+	11	3630	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1100H			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3298-3300)cCc>cAc		lysine (K)-specific demethylase 6B							17.0	20.0	19.0					17																	7752905		2200	4291	6491	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752905C>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3299C>A	17.37:g.7752905C>A	ENSP00000412513:p.Pro1100His					KDM6B_ENST00000448097.2_Missense_Mutation_p.P1100H	p.P1100H	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3688	+			1100					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3299C>A		.	.	.	.	.	.	.	.	.	.	C	14.59	2.581646	0.46006	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.42513	0.97;0.99	4.71	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.44542	1.39	0.46028	D	0.998827	D;D	0.89917	0.999;1.0	D;D	0.78314	0.936;0.991	T	0.34477	-0.9827	10	0.10636	T	0.68	-2.8427	13.5408	0.61672	0.0:0.8423:0.1576:0.0	.	1100;1100	O15054;O15054-1	KDM6B_HUMAN;.	H	1100	ENSP00000254846:P1100H;ENSP00000412513:P1100H	ENSP00000254846:P1100H	P	+	2	0	KDM6B	7693630	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.931000	0.56529	2.344000	0.79699	0.462000	0.41574	CCC		0.632	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	30	1	0	2.56e-06	1	2.86897e-06	3	30				
ASAP1	50807	broad.mit.edu	37	8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	ENST00000518721.1	-	3	364	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_ENST00000357668.1_Missense_Mutation_p.F46C|ASAP1_ENST00000520625.1_5'Flank	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	46					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(136-138)tTc>tGc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							104.0	75.0	85.0					8																	131370312		2202	4300	6502	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131370312A>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.137T>G	8.37:g.131370312A>C	ENSP00000429900:p.Phe46Cys					ASAP1_ENST00000518721.1_Missense_Mutation_p.F46C	p.F46C			Q9ULH1	ASAP1_HUMAN			2	164	-			46					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.137T>G	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824489	0.90955	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000521426	T;T	0.26810	1.71;1.71	4.34	4.34	0.51931	.	0.358348	0.28393	U	0.015509	T	0.54935	0.1889	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63475	-0.6629	10	0.87932	D	0	.	12.6811	0.56922	1.0:0.0:0.0:0.0	.	46;46	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	C	46;46;46;39	ENSP00000350297:F46C;ENSP00000429900:F46C	ENSP00000344591:F46C	F	-	2	0	ASAP1	131439494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.378000	0.90144	1.586000	0.49944	0.260000	0.18958	TTC		0.677	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	27	0	0	0	1	0	7	27				
FREM2	341640	broad.mit.edu	37	13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	ENST00000280481.7	+	1	4364	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1383					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4147-4149)gTc>gCc		FRAS1 related extracellular matrix protein 2							101.0	93.0	95.0					13																	39265629		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265629T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4148T>C	13.37:g.39265629T>C	ENSP00000280481:p.Val1383Ala						p.V1383A	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4364	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1383					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4148T>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	0.114	-1.134552	0.01742	.	.	ENSG00000150893	ENST00000280481	T	0.37752	1.18	5.81	4.65	0.58169	.	0.236560	0.42548	D	0.000688	T	0.25457	0.0619	L	0.46741	1.465	0.22001	N	0.999426	B	0.09022	0.002	B	0.10450	0.005	T	0.21930	-1.0231	10	0.09590	T	0.72	.	6.5438	0.22394	0.1384:0.0721:0.0:0.7895	.	1383	Q5SZK8	FREM2_HUMAN	A	1383	ENSP00000280481:V1383A	ENSP00000280481:V1383A	V	+	2	0	FREM2	38163629	0.255000	0.24002	0.997000	0.53966	0.800000	0.45204	1.307000	0.33516	2.217000	0.71921	0.533000	0.62120	GTC		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	156	0	0	0	1	0	11	156				
MUC17	140453	broad.mit.edu	37	7	100685718	100685718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:100685718C>T	ENST00000306151.4	+	3	11085	c.11021C>T	c.(11020-11022)tCa>tTa	p.S3674L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3674	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)					CAAGTCAGTTCATCTCCTGTG	0.522																																						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.(11020-11022)tCa>tTa		mucin 17, cell surface associated							204.0	185.0	191.0					7																	100685718		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685718C>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.11021C>T	7.37:g.100685718C>T	ENSP00000302716:p.Ser3674Leu						p.S3674L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11085	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3674			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11021C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.833	0.522831	0.13066	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	1.78	0.843	0.18935	.	.	.	.	.	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	D	0.72982	0.979	T	0.48317	-0.9046	9	0.33940	T	0.23	.	4.3661	0.11225	0.0:0.6177:0.0:0.3823	.	3674	Q685J3	MUC17_HUMAN	L	3674	ENSP00000302716:S3674L	ENSP00000302716:S3674L	S	+	2	0	MUC17	100472438	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.069000	0.11542	0.085000	0.17107	-1.133000	0.01973	TCA		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	253	0	0	0	1	0	5	253				
GIMAP5	55340	broad.mit.edu	37	7	150439641	150439641	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	ENST00000358647.3	+	3	781	c.414T>C	c.(412-414)ttT>ttC	p.F138F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	138	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGGTCTTTGGGACAGGGG	0.582																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(412-414)ttT>ttC		GTPase, IMAP family member 5							88.0	85.0	86.0					7																	150439641		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439641T>C	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.414T>C	7.37:g.150439641T>C						GIMAP5_ENST00000479556.1_3'UTR	p.F138F	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	781	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.414T>C	CCDS5907.1																																																																																				0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		15	114	0	0	0	1	0	15	114				
SH3BP5L	80851	broad.mit.edu	37	1	249107313	249107313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	ENST00000366472.5	-	6	1815	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTCACTCGCTGGTGCTCC	0.632																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(586-588)Cga>Tga		SH3-binding domain protein 5-like							42.0	39.0	40.0					1																	249107313		2203	4300	6503	SO:0001587	stop_gained	80851							g.chr1:249107313G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.586C>T	1.37:g.249107313G>A	ENSP00000355428:p.Arg196*					SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*|SH3BP5L_ENST00000475978.1_5'UTR	p.R196*	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1815	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	196					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Nonsense_Mutation	SNP	ENST00000366472.5	37	c.586C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025639	0.93518	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.4	3.41	0.39046	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1863	11.7553	0.51872	0.0:0.1798:0.8202:0.0	.	.	.	.	X	196;164	.	ENSP00000355428:R196X	R	-	1	2	SH3BP5L	247073936	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.752000	0.55172	2.156000	0.67533	0.467000	0.42956	CGA		0.632	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		3	24	0	0	0	1	0	3	24				
PIWIL2	55124	broad.mit.edu	37	8	22146091	22146091	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	ENST00000454009.2	+	8	1407	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A300T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	300					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACAGACAGTGCTGAAATCAG	0.383																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(898-900)Gct>Act		piwi-like RNA-mediated gene silencing 2							126.0	111.0	116.0					8																	22146091		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22146091G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.898G>A	8.37:g.22146091G>A	ENSP00000406956:p.Ala300Thr					PIWIL2_ENST00000454009.2_Missense_Mutation_p.A300T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T	p.A300T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	8	1046	+			300					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.898G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262637	0.23051	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04156	3.69;3.7;3.69	5.88	3.76	0.43208	Argonaute/Dicer protein, PAZ (1);	0.579667	0.18012	N	0.154519	T	0.02083	0.0065	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.47262	-0.9131	10	0.11182	T	0.66	-13.7265	8.2072	0.31463	0.1646:0.1363:0.6991:0.0	.	300;300	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	300	ENSP00000349208:A300T;ENSP00000428267:A300T;ENSP00000406956:A300T	ENSP00000349208:A300T	A	+	1	0	PIWIL2	22202036	0.123000	0.22298	0.804000	0.32291	0.929000	0.56500	0.820000	0.27323	1.483000	0.48342	0.585000	0.79938	GCT		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	69	0	0	0	1	0	4	69				
SLC25A39	51629	broad.mit.edu	37	17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T	rs368381651		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	ENST00000377095.5	-	6	462	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.V107M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	115					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18314	0.0		0.001	False		,,,				2504	0.0					ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(319-321)Gtg>Atg		solute carrier family 25, member 39							47.0	47.0	47.0					17																	42399117		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42399117C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.343G>A	17.37:g.42399117C>T	ENSP00000366299:p.Val115Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.V115M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M	p.V107M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	6	493	-		Prostate(33;0.0233)	115					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.319G>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612297	0.46631	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80566	-1.39;-1.39;-1.39	5.38	4.35	0.52113	Mitochondrial carrier domain (2);	0.122041	0.53938	D	0.000056	T	0.64349	0.2590	L	0.35644	1.08	0.30215	N	0.797322	B;P;P;B;P	0.41546	0.37;0.754;0.484;0.283;0.676	B;B;B;B;B	0.34489	0.082;0.184;0.067;0.094;0.06	T	0.63849	-0.6544	10	0.33940	T	0.23	-25.877	4.722	0.12922	0.0:0.7355:0.0:0.2645	.	100;107;92;115;107	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	M	107;115;92	ENSP00000225308:V107M;ENSP00000366299:V115M;ENSP00000444540:V92M	ENSP00000225308:V107M	V	-	1	0	SLC25A39	39754643	0.017000	0.18338	1.000000	0.80357	0.843000	0.47879	1.553000	0.36255	2.793000	0.96121	0.655000	0.94253	GTG		0.637	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		13	38	0	0	0	1	0	13	38				
ZNF764	92595	broad.mit.edu	37	16	30566916	30566916	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:30566916G>T	ENST00000252797.2	-	3	906	c.826C>A	c.(826-828)Cag>Aag	p.Q276K	ZNF764_ENST00000395091.2_Missense_Mutation_p.Q275K|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGCCGGTGCTGGTAGAGGGCA	0.726																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(823-825)Cag>Aag		zinc finger protein 764							5.0	7.0	7.0					16																	30566916		2073	4137	6210	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566916G>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.826C>A	16.37:g.30566916G>T	ENSP00000252797:p.Gln276Lys					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.Q276K	p.Q275K			Q96H86	ZN764_HUMAN			3	1138	-			276					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.823C>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	3.180	-0.168054	0.06461	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.15017	2.46;2.46	5.16	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002333	T	0.06917	0.0176	N	0.16307	0.4	0.19575	N	0.999963	P;B	0.38827	0.649;0.077	B;B	0.37692	0.256;0.037	T	0.22521	-1.0214	10	0.05351	T	0.99	-17.8248	3.2757	0.06897	0.0839:0.1602:0.4475:0.3084	.	275;276	B3KSN2;Q96H86	.;ZN764_HUMAN	K	276;275	ENSP00000252797:Q276K;ENSP00000378526:Q275K	ENSP00000252797:Q276K	Q	-	1	0	ZNF764	30474417	0.000000	0.05858	0.995000	0.50966	0.809000	0.45718	-0.825000	0.04433	0.720000	0.32209	0.462000	0.41574	CAG		0.726	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		3	9	1	0	0.115264	1	0.120841	3	9				
KDM3A	55818	broad.mit.edu	37	2	86697513	86697513	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:86697513G>A	ENST00000409556.1	+	12	2071	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	569					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTTTTGCCGCTTCTTTCAC	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1705-1707)cGc>cAc		lysine (K)-specific demethylase 3A							110.0	103.0	106.0					2																	86697513		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86697513G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1706G>A	2.37:g.86697513G>A	ENSP00000386660:p.Arg569His					KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H	p.R569H			Q9Y4C1	KDM3A_HUMAN			12	2071	+			569					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1706G>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415431	0.96092	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.82181	0.4981	M	0.85197	2.74	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82464	-0.0444	10	0.49607	T	0.09	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	517;569	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	569;569;569;569;517	ENSP00000386660:R569H;ENSP00000323659:R569H;ENSP00000386516:R569H;ENSP00000438324:R517H	ENSP00000323659:R569H	R	+	2	0	KDM3A	86551024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.778000	0.95560	0.655000	0.94253	CGC		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		4	99	0	0	0	1	0	4	99				
NOL6	65083	broad.mit.edu	37	9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	ENST00000379471.2	-	12	1517	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R425H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	477					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1429-1431)cGt>cAt		nucleolar protein 6 (RNA-associated)							23.0	25.0	24.0					9																	33467861		2203	4298	6501	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467861C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1430G>A	9.37:g.33467861C>T	ENSP00000368784:p.Arg477His					NOL6_ENST00000455041.2_Missense_Mutation_p.R425H|NOL6_ENST00000464829.1_Intron	p.R477H			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1517	-			477					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1430G>A		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102154	0.01828	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.62	-0.943	0.10395	.	0.792260	0.12748	N	0.442387	T	0.30039	0.0752	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.005;0.005;0.005;0.006	B;B;B;B;B	0.09377	0.004;0.001;0.002;0.002;0.002	T	0.22034	-1.0228	10	0.33940	T	0.23	.	10.8552	0.46794	0.0:0.6061:0.0:0.3939	.	425;474;477;477;477	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	H	477;477;477;33;477;425	ENSP00000313978:R477H;ENSP00000297990:R477H;ENSP00000368784:R477H;ENSP00000395915:R425H	ENSP00000297990:R477H	R	-	2	0	NOL6	33457861	0.507000	0.26146	0.981000	0.43875	0.281000	0.26958	0.316000	0.19469	-0.071000	0.12886	-1.332000	0.01269	CGT		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	47	0	0	0	1	0	4	47				
RFX7	64864	broad.mit.edu	37	15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	ENST00000559447.2	-	9	2480	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.Q834*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	737					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2500-2502)Cag>Tag		regulatory factor X, 7							117.0	115.0	116.0					15																	56387426		1899	4127	6026	SO:0001587	stop_gained	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387426G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2209C>T	15.37:g.56387426G>A	ENSP00000453281:p.Gln737*					RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q737*	p.Q834*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2499	-			737					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37	c.2500C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.085769	0.97271	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.9433	18.2487	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	737;834;834	.	ENSP00000313299:Q834X	Q	-	1	0	RFX7	54174718	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.081000	0.64444	2.531000	0.85337	0.563000	0.77884	CAG		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	132	0	0	0	1	0	8	132				
TBC1D4	9882	broad.mit.edu	37	13	75861015	75861015	+	Silent	SNP	G	G	A	rs374784151		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	ENST00000377636.3	-	21	4156	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_ENST00000425511.1_Silent_p.P434P|TBC1D4_ENST00000377625.2_Silent_p.P1207P|TBC1D4_ENST00000431480.2_Silent_p.P1262P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1270					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P1270P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453																																						ENST00000377636.3																			1	Substitution - coding silent(1)	p.P1270P(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3808-3810)ccC>ccT		TBC1 domain family, member 4		G		0,3796		0,0,1898	100.0	103.0	102.0		3810	-9.5	0.2	13		102	1,8241		0,1,4120	no	coding-synonymous	TBC1D4	NM_014832.2		0,1,6018	AA,AG,GG		0.0121,0.0,0.0083		1270/1299	75861015	1,12037	1898	4121	6019	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75861015G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3810C>T	13.37:g.75861015G>A						TBC1D4_ENST00000431480.2_Silent_p.P1262P|TBC1D4_ENST00000377625.2_Silent_p.P1207P|TBC1D4_ENST00000425511.1_Silent_p.P434P	p.P1270P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	21	4156	-		Prostate(6;0.014)|Breast(118;0.0982)	1270					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.3810C>T	CCDS41901.1																																																																																				0.453	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		3	56	0	0	0	1	0	3	56				
FMR1NB	158521	broad.mit.edu	37	X	147106438	147106438	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	ENST00000370467.3	+	5	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	229						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(685-687)aAg>aGg		fragile X mental retardation 1 neighbor							145.0	125.0	132.0					X																	147106438		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147106438A>G		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.686A>G	X.37:g.147106438A>G	ENSP00000359498:p.Lys229Arg						p.K229R	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			5	760	+	Acute lymphoblastic leukemia(192;6.56e-05)		229					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.686A>G	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613506	0.46631	.	.	ENSG00000176988	ENST00000370467	T	0.38560	1.13	3.79	2.63	0.31362	.	0.179711	0.27100	N	0.020924	T	0.38108	0.1028	N	0.24115	0.695	0.09310	N	1	P	0.50943	0.94	P	0.56434	0.798	T	0.11966	-1.0566	10	0.87932	D	0	-28.8921	4.9601	0.14061	0.8607:0.0:0.1393:0.0	.	229	Q8N0W7	FMR1N_HUMAN	R	229	ENSP00000359498:K229R	ENSP00000359498:K229R	K	+	2	0	FMR1NB	146914130	0.996000	0.38824	0.065000	0.19835	0.014000	0.08584	2.102000	0.41796	0.627000	0.30340	0.486000	0.48141	AAG		0.413	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		3	45	0	0	0	1	0	3	45				
ACTG2	72	broad.mit.edu	37	2	74146597	74146597	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	ENST00000409624.1	+	10	1669	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_ENST00000345517.3_Silent_p.I342I|ACTG2_ENST00000409731.3_Silent_p.I299I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	342					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1024-1026)atC>atT		actin, gamma 2, smooth muscle, enteric							80.0	83.0	82.0					2																	74146597		2203	4300	6503	SO:0001819	synonymous_variant	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146597C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1026C>T	2.37:g.74146597C>T						ACTG2_ENST00000409731.3_Silent_p.I299I|ACTG2_ENST00000345517.3_Silent_p.I342I	p.I342I			P63267	ACTH_HUMAN			10	1669	+			342					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Silent	SNP	ENST00000409624.1	37	c.1026C>T	CCDS1930.1																																																																																				0.527	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		10	85	0	0	0	1	0	10	85				
PTPRU	10076	broad.mit.edu	37	1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	ENST00000345512.3	+	3	441	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	104	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(310-312)taC>taA		protein tyrosine phosphatase, receptor type, U							155.0	172.0	166.0					1																	29585123		2203	4300	6503	SO:0001587	stop_gained	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585123C>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.312C>A	1.37:g.29585123C>A	ENSP00000334941:p.Tyr104*					PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.Y104*	p.Y104*			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	422	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	104			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.312C>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	6.717362	0.97784	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.72	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5628	0.50788	0.0:0.8564:0.0:0.1436	.	.	.	.	X	104	.	.	Y	+	3	2	PTPRU	29457710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.094000	0.71431	0.786000	0.33708	-0.229000	0.12294	TAC		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			19	190	1	0	1.9806e-07	1	2.25858e-07	19	190				
RALA	5898	broad.mit.edu	37	7	39726381	39726381	+	Splice_Site	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	ENST00000005257.2	+	2	494		c.e2+1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.e2+1		v-ral simian leukemia viral oncogene homolog A (ras related)							101.0	90.0	94.0					7																	39726381		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39726381G>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.114+1G>T	7.37:g.39726381G>T						RALA_ENST00000468201.1_Intron		NM_005402.3	NP_005393.2	P11233	RALA_HUMAN			2	494	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37		CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556040	0.86231	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39692906	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.789000	0.95967	0.655000	0.94253	.		0.418	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	4	45	1	0	0.00024832	1	0.000264603	4	45				
FAT3	120114	broad.mit.edu	37	11	92523169	92523169	+	Missense_Mutation	SNP	G	G	A	rs558307095	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:92523169G>A	ENST00000298047.6	+	7	4413	c.4396G>A	c.(4396-4398)Gat>Aat	p.D1466N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1466	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCGAATTACGATGTGACAAT	0.408										TCGA Ovarian(4;0.039)			G|||	2	0.000399361	0.0	0.0	5008	,	,		20359	0.0		0.002	False		,,,				2504	0.0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4396-4398)Gat>Aat		FAT atypical cadherin 3							136.0	128.0	130.0					11																	92523169		1949	4158	6107	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523169G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4396G>A	11.37:g.92523169G>A	ENSP00000298047:p.Asp1466Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N	p.D1466N			Q8TDW7	FAT3_HUMAN			7	4413	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1466			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4396G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.944819	0.73672	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01725	4.67;4.67;4.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.01222	0.0040	N	0.04203	-0.255	0.80722	D	1	B	0.33494	0.414	B	0.25759	0.063	T	0.71101	-0.4690	9	0.51188	T	0.08	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	1466	Q8TDW7-3	.	N	1466;1466;1316	ENSP00000298047:D1466N;ENSP00000387040:D1466N;ENSP00000432586:D1316N	ENSP00000298047:D1466N	D	+	1	0	FAT3	92162817	1.000000	0.71417	0.967000	0.41034	0.866000	0.49608	7.983000	0.88140	2.941000	0.99782	0.655000	0.94253	GAT		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	148	0	0	0	1	0	4	148				
UXS1	80146	broad.mit.edu	37	2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	ENST00000409501.3	-	7	604	c.547A>G	c.(547-549)Aca>Gca	p.T183A	UXS1_ENST00000283148.7_Missense_Mutation_p.T188A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	183					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(562-564)Aca>Gca		UDP-glucuronate decarboxylase 1							115.0	108.0	110.0					2																	106746145		1862	4105	5967	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106746145T>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.547A>G	2.37:g.106746145T>C	ENSP00000387019:p.Thr183Ala					UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000409501.3_Missense_Mutation_p.T183A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000428048.2_Intron	p.T188A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			7	659	-			183					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.562A>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498140	0.64186	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.85	5.85	0.93711	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	D	0.93028	0.6446	10	0.16420	T	0.52	-8.9369	16.2303	0.82332	0.0:0.0:0.0:1.0	.	188;183	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	188;126;183;15;15;15;126;15	ENSP00000283148:T188A;ENSP00000438265:T126A;ENSP00000387019:T183A;ENSP00000387096:T15A;ENSP00000403612:T15A;ENSP00000404468:T15A;ENSP00000399316:T126A;ENSP00000397049:T15A	ENSP00000283148:T188A	T	-	1	0	UXS1	106112577	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.583000	0.82559	2.233000	0.73108	0.533000	0.62120	ACA		0.378	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		12	20	0	0	0	1	0	12	20				
CACNA1G	8913	broad.mit.edu	37	17	48652951	48652951	+	Silent	SNP	G	G	A	rs201089692	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	ENST00000359106.5	+	8	1188	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000352832.5_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	396					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1186-1188)acG>acA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						44.0	46.0	46.0					17																	48652951		2167	4270	6437	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48652951G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1188G>A	17.37:g.48652951G>A						CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000359106.5_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T	p.T396T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1560	+	Breast(11;6.7e-17)		396					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.1188G>A	CCDS45730.1																																																																																				0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	46	0	0	0	1	0	19	46				
NCKAP5	344148	broad.mit.edu	37	2	133721292	133721292	+	Splice_Site	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5									p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368																																						ENST00000409261.1																			2	Unknown(2)	p.?(2)	lung(2)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.e8+1		NCK-associated protein 5							134.0	129.0	130.0					2																	133721292		1836	4099	5935	SO:0001630	splice_region_variant	344148						protein binding	g.chr2:133721292C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.579+1G>A	2.37:g.133721292C>T						NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site		NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			8	953	-								B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Splice_Site	SNP	ENST00000409261.1	37		CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443110	0.63067	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0473	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5	133437762	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.976000	0.63785	2.826000	0.97356	0.655000	0.94253	.		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	Intron	14	46	0	0	0	1	0	14	46				
EFTUD1	79631	broad.mit.edu	37	15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	ENST00000268206.7	-	2	179	c.11A>G	c.(10-12)aAc>aGc	p.N4S	FAM154B_ENST00000427381.2_5'Flank|FAM154B_ENST00000339465.5_5'Flank|EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S|FAM154B_ENST00000566861.1_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000566205.1_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	4					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(10-12)aAc>aGc		elongation factor Tu GTP binding domain containing 1							130.0	113.0	118.0					15																	82554109		1823	4090	5913	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82554109T>C	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.11A>G	15.37:g.82554109T>C	ENSP00000268206:p.Asn4Ser					EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S	p.N4S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			2	179	-			4					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.11A>G	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622275	0.14193	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.62498	0.02;0.3	3.71	0.0756	0.14399	.	1.186530	0.06266	N	0.694762	T	0.43942	0.1270	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	10	0.34782	T	0.22	-11.2612	0.5891	0.00725	0.2635:0.3081:0.1444:0.2841	.	4;4	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	4	ENSP00000268206:N4S;ENSP00000352418:N4S	ENSP00000268206:N4S	N	-	2	0	EFTUD1	80341164	0.036000	0.19791	0.809000	0.32408	0.870000	0.49936	0.168000	0.16622	-0.167000	0.10871	0.438000	0.28831	AAC		0.333	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		21	94	0	0	0	1	0	21	94				
MAATS1	89876	broad.mit.edu	37	3	119465994	119465994	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:119465994C>T	ENST00000273390.5	+	15	2012	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	481						mitochondrion (GO:0005739)											CTATAAGCTCCTACCTAGAAG	0.373																																						ENST00000273390.5																			0											c.(1933-1935)tcC>tcT		MYCBP-associated, testis expressed 1							108.0	105.0	106.0					3																	119465994		2203	4300	6503	SO:0001819	synonymous_variant	89876							g.chr3:119465994C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1935C>T	3.37:g.119465994C>T						RP11-169N13.4_ENST00000489428.2_RNA	p.S645S	NM_033364.3	NP_203528.2					15	2012	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1935C>T	CCDS2994.1																																																																																				0.373	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		12	88	0	0	0	1	0	12	88				
TAF1	6872	broad.mit.edu	37	X	70626502	70626502	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	ENST00000373790.4	+	26	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000449580.1_Missense_Mutation_p.R1337L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1337					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4009-4011)cGc>cTc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							115.0	96.0	102.0					X																	70626502		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70626502G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4010G>T	X.37:g.70626502G>T	ENSP00000362895:p.Arg1337Leu					TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000373790.4_Missense_Mutation_p.R1337L	p.R1337L			P21675	TAF1_HUMAN			26	4061	+	Renal(35;0.156)	all_lung(315;0.000321)	1337					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4010G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	31|31	5.088291|5.088291	0.94100|0.94100	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985;ENST00000463163|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.11712	.|2.75;2.82;2.8;2.75	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.092691	.|0.64402	.|D	.|0.000001	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	.|D;D;B	.|0.61080	.|0.988;0.989;0.388	.|D;P;B	.|0.63793	.|0.918;0.762;0.061	T|T	0.03034|0.03034	-1.1080|-1.1080	5|10	.|0.72032	.|D	.|0.01	.|.	17.4602|17.4602	0.87618|0.87618	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1337;1337;1358	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	S|L	248;3|1337;1337;1358;43;43;1358	.|ENSP00000362895:R1337L;ENSP00000389000:R1337L;ENSP00000406549:R1358L;ENSP00000276072:R1358L	.|ENSP00000276072:R1358L	A|R	+|+	1|2	0|0	TAF1|TAF1	70543227|70543227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.078000|9.078000	0.94023|0.94023	2.307000|2.307000	0.77673|0.77673	0.464000|0.464000	0.42555|0.42555	GCA|CGC		0.398	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		6	37	1	0	5.18039e-06	1	5.70721e-06	6	37				
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662																																						ENST00000356297.4																			2	Substitution - Missense(2)	p.R864C(1)|p.R63C(1)	large_intestine(2)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2590-2592)Cgc>Tgc		peroxidasin homolog (Drosophila)-like							22.0	26.0	25.0					8																	52321594		2026	4158	6184	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321594G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2590C>T	8.37:g.52321594G>A	ENSP00000348645:p.Arg864Cys					PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	p.R864C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2690	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	864					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2590C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336473	0.24253	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84800	-1.9;-1.9	3.31	0.304	0.15796	.	0.272281	0.26156	N	0.026002	D	0.94128	0.8117	H	0.99286	4.5	0.44123	D	0.996903	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	4.8892	0.13719	0.22:0.1755:0.6045:0.0	.	864	A1KZ92	PXDNL_HUMAN	C	864	ENSP00000348645:R864C;ENSP00000444865:R864C	ENSP00000348645:R864C	R	-	1	0	PXDNL	52484147	1.000000	0.71417	0.029000	0.17559	0.003000	0.03518	2.981000	0.49329	-0.220000	0.09988	-0.898000	0.02899	CGC		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	51	0	0	0	1	0	3	51				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	77	0	0	0	1	0	4	77				
MYH8	4626	broad.mit.edu	37	17	10303716	10303716	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	ENST00000403437.2	-	27	3820	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3724-3726)tcC>tcT		myosin, heavy chain 8, skeletal muscle, perinatal							192.0	183.0	186.0					17																	10303716		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303716G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3726C>T	17.37:g.10303716G>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.S1242S	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3820	-			1242					Q14910	Silent	SNP	ENST00000403437.2	37	c.3726C>T	CCDS11153.1																																																																																				0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		59	180	0	0	0	1	0	59	180				
MARCH4	57574	broad.mit.edu	37	2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(205-207)agfs		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							4.0	5.0	5.0					2																	217234779		2099	4083	6182	SO:0001589	frameshift_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234779delG	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.205delC	2.37:g.217234779delG	ENSP00000273067:p.Gln69fs						p.Q69fs	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1971	-		Renal(323;0.0854)	69			Pro-rich.		Q4KMN7|Q86WR8	Frame_Shift_Del	DEL	ENST00000273067.4	37	c.205delC	CCDS33376.1																																																																																				0.701	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		2	4						2	4	---	---	---	---
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	GAA	-	rs200198294		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:42739670_42739672delGAA	ENST00000441594.1	-	6	916_918	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_ENST00000310417.5_In_Frame_Del_p.F219del	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	219					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(655-657)del		hedgehog acyltransferase-like				9,4257		4,1,2128						5.1	1.0			144	18,8236		9,0,4118	no	coding	HHATL	NM_020707.3		13,1,6246	A1A1,A1R,RR		0.2181,0.211,0.2157				27,12493				SO:0001651	inframe_deletion	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739670_42739672delGAA	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.655_657delTTC	3.37:g.42739679_42739681delGAA	ENSP00000405423:p.Phe219del					HHATL_ENST00000310417.5_In_Frame_Del_p.F219del	p.F219del	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	6	916_918	-			219					Q8TBG3|Q9ULP7	In_Frame_Del	DEL	ENST00000441594.1	37	c.655_657delTTC	CCDS2704.1																																																																																				0.552	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		7	176						7	176	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598217	52598217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	ENST00000296302.7	-	23	3725	c.3724delC	c.(3724-3726)ctcfs	p.L1242fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.L1210fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs			Q86U86	PB1_HUMAN	polybromo 1	1242	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3628-3630)tcfs		polybromo 1							87.0	85.0	86.0					3																	52598217		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598217delG	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3724delC	3.37:g.52598217delG	ENSP00000296302:p.Leu1242fs					PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|SMIM4_ENST00000476842.1_Intron	p.L1210fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3630	-			1242		Missing (found in a case of clear cell renal carcinoma; somatic mutation).	BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3628delC																																																																																					0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		7	98						7	98	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	ENST00000474710.1	-	4	1937_1938	c.1759_1760delTT	c.(1759-1761)ttcfs	p.F587fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	587						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1540-1542)cfs		zinc finger and BTB domain containing 20																																				SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069165_114069166delAA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1759_1760delTT	3.37:g.114069165_114069166delAA	ENSP00000419153:p.Phe587fs					ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.F587fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs	p.F514fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2361_2362	-			587					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1540_1541delTT	CCDS54626.1																																																																																				0.599	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		16	261						16	261	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	ENST00000337488.6	+	17	1777_1778	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	528	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAACGACATAGAGAAAGAC	0.381			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1582-1584)cfs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54324903_54324904delAT	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1583_1584delAT	4.37:g.54324903_54324904delAT	ENSP00000336752:p.His528fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs	p.H528fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		17	1777_1778	+			528			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1583_1584delAT	CCDS3491.1																																																																																				0.381	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		11	41						11	41	---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84509367	84509367	+	Frame_Shift_Del	DEL	A	A	-	rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	ENST00000395226.2	+	6	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	187					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTCAGCCTCAAAAACTGGCT	0.413																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(559-561)aafs		1-acylglycerol-3-phosphate O-acyltransferase 9							130.0	120.0	123.0					4																	84509367		2203	4300	6503	SO:0001589	frameshift_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84509367delA	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.559delA	4.37:g.84509367delA	ENSP00000378651:p.Lys187fs					AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			6	777	+		Hepatocellular(203;0.114)	187					Q68CJ4|Q6GPI6|Q96NA3	Frame_Shift_Del	DEL	ENST00000395226.2	37	c.559delA	CCDS3606.1																																																																																				0.413	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		7	155						7	155	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	115						9	115	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			0							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		4	9						4	9	---	---	---	---
HEY1	23462	broad.mit.edu	37	8	80681146	80681146	+	5'Flank	DEL	C	C	-	rs555629297	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:80681146delC	ENST00000354724.3	-	0	0				HEY1_ENST00000337919.5_5'Flank|HEY1_ENST00000523976.1_5'Flank|HEY1_ENST00000435063.2_5'Flank|RP11-26J3.1_ENST00000502766.2_lincRNA|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1						angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			Tcccccgctgccccccccccc	0.617			T	NCOA2	mesenchymal chondrosarcoma								|||unknown(HR)	3741	0.747005	0.8268	0.7421	5008	,	,		4181	0.7619		0.6948	False		,,,				2504	0.681					ENST00000607172.1				Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:80681146delC	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3			8.37:g.80681146delC	Exception_encountered													0	77	+								B2R883|Q5TZS3|Q8NAM2|Q9NYP4	RNA	DEL	ENST00000354724.3	37		CCDS6225.1																																																																																				0.617	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		2	4						2	4	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642																																						ENST00000566806.1																			0																																																			0							g.chr16:32095553delG																													16.37:g.32095553delG														0	499	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.642	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	5						3	5	---	---	---	---
TBC1D28	254272	broad.mit.edu	37	17	18539791	18539791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	ENST00000345096.4	-	9	1316	c.617delG	c.(616-618)ggtfs	p.G206fs	TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	206	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532																																						ENST00000345096.4																			0				breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						c.(616-618)gtfs		TBC1 domain family, member 28							96.0	96.0	96.0					17																	18539791		1927	4129	6056	SO:0001589	frameshift_variant	254272					intracellular	Rab GTPase activator activity	g.chr17:18539791delC		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.617delG	17.37:g.18539791delC	ENSP00000339973:p.Gly206fs					TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs	p.G206fs			Q2M2D7	TBC28_HUMAN			9	1316	-			206			Rab-GAP TBC.		Q2M2E1	Frame_Shift_Del	DEL	ENST00000345096.4	37	c.617delG	CCDS42273.1																																																																																				0.532	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		10	176						10	176	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)gagdel	p.E43del	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(112-114)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001303_27001305delGAG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.112_114delGAG	17.37:g.27001312_27001314delGAG	ENSP00000319104:p.Glu43del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	395_397	+	Lung NSC(42;0.00431)		43			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.112_114delGAG	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	72						10	72	---	---	---	---
NFIX	4784	broad.mit.edu	37	19	13192587	13192589	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	ENST00000592199.1	+	8	1172_1174	c.1172_1174delACC	c.(1171-1176)taccac>tac	p.H395del	NFIX_ENST00000360105.4_In_Frame_Del_p.H357del|NFIX_ENST00000585575.1_In_Frame_Del_p.H387del|NFIX_ENST00000587760.1_In_Frame_Del_p.H387del|NFIX_ENST00000358552.3_In_Frame_Del_p.H353del|NFIX_ENST00000587260.1_In_Frame_Del_p.H394del|NFIX_ENST00000588228.1_In_Frame_Del_p.H348del|NFIX_ENST00000397661.2_In_Frame_Del_p.H395del			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	395					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1045-1050)tac>t		nuclear factor I/X (CCAAT-binding transcription factor)																																				SO:0001651	inframe_deletion	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192587_13192589delACC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1172_1174delACC	19.37:g.13192596_13192598delACC	ENSP00000467512:p.His395del		OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	NFIX_ENST00000587260.1_In_Frame_Del_p.YH390del|NFIX_ENST00000592199.1_In_Frame_Del_p.YH391del|NFIX_ENST00000397661.2_In_Frame_Del_p.YH391del|NFIX_ENST00000587760.1_In_Frame_Del_p.YH383del|NFIX_ENST00000360105.4_In_Frame_Del_p.YH353del|NFIX_ENST00000585575.1_In_Frame_Del_p.YH383del|NFIX_ENST00000588228.1_In_Frame_Del_p.YH344del	p.YH349del			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	1046_1048	+			391					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	In_Frame_Del	DEL	ENST00000592199.1	37	c.1046_1048delACC																																																																																					0.645	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		7	119						7	119	---	---	---	---
