#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
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	246	0	0	0	1	0	4	246				
MORC2	22880	broad.mit.edu	37	22	31328609	31328609	+	Silent	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:31328609T>C	ENST00000397641.3	-	23	3078	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.E828E			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	890						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCGGAGGCATTCGGAAGTGG	0.597																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2482-2484)gaA>gaG		MORC family CW-type zinc finger 2							113.0	87.0	96.0					22																	31328609		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31328609T>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2670A>G	22.37:g.31328609T>C						MORC2_ENST00000397641.2_Silent_p.E890E	p.E828E	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			24	3847	-			890					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.2484A>G		.	.	.	.	.	.	.	.	.	.	T	0.400	-0.918878	0.02396	.	.	ENSG00000133422	ENST00000445980	.	.	.	5.95	-0.0887	0.13672	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	2.5488	0.04743	0.1257:0.3069:0.264:0.3034	.	.	.	.	V	52	.	.	M	-	1	0	MORC2	29658609	0.994000	0.37717	0.838000	0.33150	0.007000	0.05969	0.119000	0.15626	-0.141000	0.11374	-1.482000	0.00985	ATG		0.597	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		19	66	0	0	0	1	0	19	66				
SLC25A48	153328	broad.mit.edu	37	5	135188391	135188391	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr5:135188391G>A	ENST00000420621.1	+	4	474	c.302G>A	c.(301-303)cGc>cAc	p.R101H	SLC25A48_ENST00000274513.5_Missense_Mutation_p.R101H|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101H|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47H			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	101					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGTCCTCCCCGCACGCTGTCA	0.647																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(301-303)cGc>cAc		solute carrier family 25, member 48							58.0	64.0	62.0					5																	135188391		1969	4135	6104	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188391G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.302G>A	5.37:g.135188391G>A	ENSP00000407973:p.Arg101His					SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47H|SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101H|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101H	p.R101H			Q6ZT89	S2548_HUMAN			4	474	+			101					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032735	0.07543	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.08	1.3	0.21679	.	0.230538	0.45361	N	0.000379	T	0.54919	0.1888	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.09377	0.002;0.004	T	0.34254	-0.9836	10	0.24483	T	0.36	-24.2126	6.0216	0.19632	0.3233:0.2207:0.456:0.0	.	101;101	Q6ZT89-3;Q6ZT89-2	.;.	H	101;101;47;101	ENSP00000274513:R101H;ENSP00000407973:R101H;ENSP00000399834:R47H;ENSP00000413049:R101H	ENSP00000274513:R101H	R	+	2	0	SLC25A48	135216290	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.214000	0.09292	-0.049000	0.13379	0.462000	0.41574	CGC		0.647	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		4	184	0	0	0	1	0	4	184				
ACACA	31	broad.mit.edu	37	17	35549066	35549066	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:35549066G>A	ENST00000394406.2	-	37	4460	c.4270C>T	c.(4270-4272)Cgt>Tgt	p.R1424C	ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C|ACACA_ENST00000353139.5_Missense_Mutation_p.R1461C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1424					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1461C(1)|p.R1366C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGATTGCACGAACAAAGAAC	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.R1461C(1)|p.R1366C(1)	large_intestine(2)	NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4381-4383)Cgt>Tgt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						143.0	112.0	122.0					17																	35549066		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549066G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4270C>T	17.37:g.35549066G>A	ENSP00000377928:p.Arg1424Cys					ACACA_ENST00000394406.2_Missense_Mutation_p.R1424C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C	p.R1461C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			37	4862	-		Breast(25;0.00157)|Ovarian(249;0.15)	1424					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4381C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504773	0.85176	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.68	4.67	0.58626	Acetyl-CoA carboxylase, central domain (1);	0.056310	0.64402	D	0.000001	D	0.88584	0.6476	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.87578	0.998;0.981;0.882;0.995	D	0.90801	0.4694	10	0.87932	D	0	-9.768	15.2496	0.73532	0.0:0.0:0.8325:0.1675	.	172;1461;1424;1366	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	C	1461;1366;1424;1448;1346;172	ENSP00000344789:R1461C;ENSP00000353898:R1366C;ENSP00000377928:R1424C;ENSP00000335323:R1346C	ENSP00000335323:R1346C	R	-	1	0	ACACA	32623179	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.320000	0.59203	2.669000	0.90835	0.650000	0.86243	CGT		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		43	40	0	0	0	1	0	43	40				
NUP205	23165	broad.mit.edu	37	7	135272653	135272653	+	Silent	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:135272653A>G	ENST00000285968.6	+	10	1412	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	462					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCTCTAGAATATTGGTGTC	0.468																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1384-1386)gaA>gaG		nucleoporin 205kDa							83.0	84.0	84.0					7																	135272653		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272653A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1386A>G	7.37:g.135272653A>G						NUP205_ENST00000440390.2_Intron	p.E462E	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			10	1412	+			462					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.1386A>G	CCDS34759.1																																																																																				0.468	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	74	0	0	0	1	0	4	74				
MYOC	4653	broad.mit.edu	37	1	171605167	171605167	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:171605167A>T	ENST00000037502.6	-	3	1484	c.1413T>A	c.(1411-1413)taT>taA	p.Y471*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	471	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		Y -> C (in GLC1A; unknown pathological significance). {ECO:0000269|PubMed:12356829}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTACTTATAGCGGTTCT	0.488																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(1411-1413)taT>taA		myocilin, trabecular meshwork inducible glucocorticoid response							196.0	173.0	181.0					1																	171605167		2203	4300	6503	SO:0001587	stop_gained	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605167A>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1413T>A	1.37:g.171605167A>T	ENSP00000037502:p.Tyr471*						p.Y471*	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1472	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		471		Y -> C (in GLC1A; uncertain pathogenicity).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	ENST00000037502.6	37	c.1413T>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994445	0.93167	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	.	.	.	5.08	3.16	0.36331	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8164	0.34998	0.2503:0.0:0.7497:0.0	.	.	.	.	X	471;424;404	.	ENSP00000037502:Y471X	Y	-	3	2	MYOC	169871790	0.984000	0.35163	0.732000	0.30844	0.984000	0.73092	1.853000	0.39358	1.268000	0.44264	-0.354000	0.07668	TAT		0.488	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		25	110	0	0	0	1	0	25	110				
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ATACACCCAGACCACCACCAC	0.637																																						ENST00000330048.5																			0																																																			0							g.chr16:32890950A>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890950A>G								NR_003083.2						0	3016	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.637	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	44	0	0	0	1	0	3	44				
FGD1	2245	broad.mit.edu	37	X	54497147	54497147	+	Silent	SNP	T	T	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:54497147T>G	ENST00000375135.3	-	3	1261	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	176	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGCTCCAGTGGGGGGGGCA	0.662																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39	GRCh37	CI042239	FGD1	I		c.(526-528)ccA>ccC		FYVE, RhoGEF and PH domain containing 1							4.0	5.0	5.0					X																	54497147		2066	3989	6055	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497147T>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.528A>C	X.37:g.54497147T>G							p.P176P	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			3	1261	-			176			Pro-rich.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.528A>C	CCDS14359.1																																																																																				0.662	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		4	13	0	0	0	1	0	4	13				
U2SURP	23350	broad.mit.edu	37	3	142720480	142720480	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:142720480A>G	ENST00000473835.2	+	1	100	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	U2SURP_ENST00000493598.2_Missense_Mutation_p.K4E|RP11-372E1.6_ENST00000595774.1_RNA|RP11-91G21.1_ENST00000597953.1_lincRNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	4					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GATGGCGGACAAAACGCCAGG	0.587																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(10-12)Aaa>Gaa		U2 snRNP-associated SURP domain containing							45.0	48.0	47.0					3																	142720480		1963	4134	6097	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142720480A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.10A>G	3.37:g.142720480A>G	ENSP00000418563:p.Lys4Glu					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.K4E	p.K4E	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			1	100	+			4					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.10A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057396	0.55325	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598	T;T	0.11277	2.79;2.79	4.48	4.48	0.54585	.	0.107792	0.64402	D	0.000006	T	0.08980	0.0222	N	0.08118	0	0.80722	D	1	B;P;P	0.37398	0.0;0.593;0.458	B;P;B	0.45577	0.0;0.486;0.292	T	0.27468	-1.0073	10	0.87932	D	0	-22.3718	10.3433	0.43891	1.0:0.0:0.0:0.0	.	4;4;4	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	E	4	ENSP00000418563:K4E;ENSP00000422011:K4E	ENSP00000322376:K4E	K	+	1	0	U2SURP	144203170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.610000	0.61155	2.004000	0.58718	0.455000	0.32223	AAA		0.587	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		21	30	0	0	0	1	0	21	30				
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1			keratin 25									p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562																																						ENST00000312150.4																			2	Substitution - coding silent(2)	p.A339A(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gcG>gcA		keratin 25							139.0	141.0	140.0					17																	38906790		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906790C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1017G>A	17.37:g.38906790C>T							p.A339A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1077	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1017G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		23	247	0	0	0	1	0	23	247				
EBF3	253738	broad.mit.edu	37	10	131639180	131639180	+	Missense_Mutation	SNP	C	C	T	rs138447716		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr10:131639180C>T	ENST00000355311.5	-	14	1561	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	EBF3_ENST00000368648.3_Missense_Mutation_p.A488T|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	497	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTGGCCATGGCGCCACTTCCA	0.547																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1462-1464)Gcc>Acc		early B-cell factor 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	152.0	141.0	145.0		1462	2.9	1.0	10	dbSNP_134	145	0,8600		0,0,4300	no	missense	EBF3	NM_001005463.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	488/552	131639180	1,13005	2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639180C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1489G>A	10.37:g.131639180C>T	ENSP00000347463:p.Ala497Thr					EBF3_ENST00000355311.5_Missense_Mutation_p.A497T	p.A488T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1534	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	497			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1462G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.179284|3.179284	0.57800|0.57800	2.27E-4|2.27E-4	0.0|0.0	ENSG00000108001|ENSG00000108001	ENST00000355311;ENST00000368648|ENST00000440978	T;T|.	0.43688|.	0.94;0.94|.	4.7|4.7	2.86|2.86	0.33363|0.33363	.|.	0.257041|.	0.44688|.	N|.	0.000424|.	T|T	0.59280|0.59280	0.2182|0.2182	L|L	0.50333|0.50333	1.59|1.59	0.37062|0.37062	D|D	0.898102|0.898102	B|.	0.25667|.	0.131|.	B|.	0.25759|.	0.063|.	T|T	0.60515|0.60515	-0.7248|-0.7248	10|5	0.30078|.	T|.	0.28|.	-5.052|-5.052	12.0648|12.0648	0.53581|0.53581	0.0:0.8919:0.0:0.1081|0.0:0.8919:0.0:0.1081	.|.	488|.	Q9H4W6-2|.	.|.	T|H	497;488|58	ENSP00000347463:A497T;ENSP00000357637:A488T|.	ENSP00000347463:A497T|.	A|R	-|-	1|2	0|0	EBF3|EBF3	131529170|131529170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	4.289000|4.289000	0.59013|0.59013	0.587000|0.587000	0.29643|0.29643	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		12	177	0	0	0	1	0	12	177				
CLIP1	6249	broad.mit.edu	37	12	122845629	122845629	+	Silent	SNP	G	G	A	rs111985493		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr12:122845629G>A	ENST00000540338.1	-	4	923	c.882C>T	c.(880-882)aaC>aaT	p.N294N	CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000545889.1_De_novo_Start_OutOfFrame|CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N|CLIP1_ENST00000358808.2_Silent_p.N294N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	294					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCCTCACTGCGTTGGCCTTGG	0.562																																						ENST00000545889.1																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60								CAP-GLY domain containing linker protein 1							100.0	95.0	97.0					12																	122845629		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122845629G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.882C>T	12.37:g.122845629G>A						CLIP1_ENST00000358808.2_Silent_p.N294N|CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000540338.1_Silent_p.N294N|CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N				P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	0	134	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A0AVD3|Q17RS4|Q29RG0	Translation_Start_Site	SNP	ENST00000540338.1	37		CCDS58285.1																																																																																				0.562	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		14	91	0	0	0	1	0	14	91				
OR4A16	81327	broad.mit.edu	37	11	55111417	55111417	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr11:55111417C>T	ENST00000314721.2	+	1	791	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTGCCCTCGTTTTTGTTC	0.398																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(739-741)ctC>ctT		olfactory receptor, family 4, subfamily A, member 16							164.0	153.0	157.0					11																	55111417		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111417C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.741C>T	11.37:g.55111417C>T							p.L247L	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	791	+			247					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.741C>T	CCDS31499.1																																																																																				0.398	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		30	48	0	0	0	1	0	30	48				
DUOX1	53905	broad.mit.edu	37	15	45442843	45442843	+	Silent	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr15:45442843T>C	ENST00000321429.4	+	23	3239	c.2832T>C	c.(2830-2832)ccT>ccC	p.P944P	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.P590P|DUOX1_ENST00000389037.3_Silent_p.P944P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	944					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGAGGTGCCTGAAGTCATCA	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2830-2832)ccT>ccC		dual oxidase 1							57.0	53.0	54.0					15																	45442843		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45442843T>C	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2832T>C	15.37:g.45442843T>C						DUOX1_ENST00000389037.3_Silent_p.P944P|DUOX1_ENST00000561166.1_Silent_p.P590P	p.P944P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	23	3239	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	944					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.2832T>C	CCDS32221.1																																																																																				0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	68	0	0	0	1	0	5	68				
POF1B	79983	broad.mit.edu	37	X	84614572	84614572	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:84614572C>A	ENST00000262753.4	-	4	566	c.421G>T	c.(421-423)Gta>Tta	p.V141L	POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	141						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGATTTTGTACTACATATTTC	0.328																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(421-423)Gta>Tta		premature ovarian failure, 1B							172.0	151.0	158.0					X																	84614572		2203	4297	6500	SO:0001583	missense	79983						actin binding	g.chrX:84614572C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.421G>T	X.37:g.84614572C>A	ENSP00000262753:p.Val141Leu					POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			4	566	-			141					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.421G>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600581	0.28534	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.15017	2.46;2.46	4.77	3.91	0.45181	.	0.134893	0.33631	N	0.004711	T	0.14570	0.0352	L	0.44542	1.39	0.31065	N	0.713715	B;B	0.26147	0.143;0.033	B;B	0.26969	0.075;0.023	T	0.07462	-1.0771	10	0.48119	T	0.1	.	8.0014	0.30299	0.0:0.8869:0.0:0.1131	.	141;141	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	L	141	ENSP00000262753:V141L;ENSP00000362238:V141L	ENSP00000262753:V141L	V	-	1	0	POF1B	84501228	0.997000	0.39634	0.974000	0.42286	0.609000	0.37215	1.110000	0.31147	1.010000	0.39314	-0.315000	0.08773	GTA		0.328	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		37	53	1	0	3.03874e-20	1	3.03874e-20	37	53				
OR11H4	390442	broad.mit.edu	37	14	20711005	20711005	+	Missense_Mutation	SNP	G	G	A	rs142720326	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:20711005G>A	ENST00000315409.2	+	1	108	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AACACACATCGTGACAGAGTT	0.418																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(55-57)Gtg>Atg		olfactory receptor, family 11, subfamily H, member 4		G	MET/VAL	0,4406		0,0,2203	84.0	74.0	77.0		55	3.6	0.0	14	dbSNP_134	77	23,8577	16.6+/-54.9	0,23,4277	yes	missense	OR11H4	NM_001004479.1	21	0,23,6480	AA,AG,GG		0.2674,0.0,0.1768	probably-damaging	19/325	20711005	23,12983	2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711005G>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.55G>A	14.37:g.20711005G>A	ENSP00000318997:p.Val19Met						p.V19M	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	108	+	all_cancers(95;0.000888)		19					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.55G>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.916036	0.17907	0.0	0.002674	ENSG00000176198	ENST00000315409	T	0.00892	5.57	4.52	3.63	0.41609	.	0.297672	0.23824	N	0.044203	T	0.03608	0.0103	M	0.84156	2.68	0.09310	N	1	D	0.61697	0.99	P	0.56434	0.798	T	0.18429	-1.0337	10	0.59425	D	0.04	-5.3475	8.2957	0.31984	0.109:0.0:0.891:0.0	.	19	Q8NGC9	O11H4_HUMAN	M	19	ENSP00000318997:V19M	ENSP00000318997:V19M	V	+	1	0	OR11H4	19780845	.	.	0.045000	0.18777	0.004000	0.04260	.	.	1.133000	0.42147	-0.136000	0.14681	GTG		0.418	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			6	64	0	0	0	1	0	6	64				
HSF4	3299	broad.mit.edu	37	16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|NOL3_ENST00000432069.2_5'Flank|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1471-1473)Tcc>Ccc		heat shock transcription factor 4							39.0	45.0	43.0					16																	67203680		1849	4065	5914	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203680T>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P	p.S491P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2436	+		Ovarian(137;0.0563)	491					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1471T>C	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	142	0	0	0	1	0	4	142				
TRRAP	8295	broad.mit.edu	37	7	98547852	98547852	+	Silent	SNP	C	C	T	rs113411331		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:98547852C>T	ENST00000359863.4	+	37	5489	c.5280C>T	c.(5278-5280)aaC>aaT	p.N1760N	TRRAP_ENST00000446306.3_Silent_p.N1741N|TRRAP_ENST00000355540.3_Silent_p.N1742N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1760					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGACTTCAACGACCCCAACT	0.428																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5278-5280)aaC>aaT		transformation/transcription domain-associated protein							90.0	86.0	87.0					7																	98547852		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547852C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5280C>T	7.37:g.98547852C>T						TRRAP_ENST00000355540.3_Silent_p.N1742N|TRRAP_ENST00000446306.3_Silent_p.N1741N	p.N1760N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		37	5489	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1760					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5280C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551419	0.13374	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.6	-5.53	0.02552	.	.	.	.	.	T	0.62295	0.2416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64058	-0.6496	4	.	.	.	.	14.2414	0.65959	0.0:0.5278:0.0:0.4722	.	.	.	.	M	1482	.	.	T	+	2	0	TRRAP	98385788	0.005000	0.15991	0.251000	0.24312	0.956000	0.61745	-0.041000	0.12084	-0.916000	0.03818	-0.648000	0.03929	ACG		0.428	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		42	58	0	0	0	1	0	42	58				
CBLB	868	broad.mit.edu	37	3	105452941	105452941	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:105452941A>G	ENST00000264122.4	-	9	1436	c.1115T>C	c.(1114-1116)cTc>cCc	p.L372P	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P|CBLB_ENST00000394027.3_Missense_Mutation_p.L394P|CBLB_ENST00000405772.1_Missense_Mutation_p.L372P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	372	Linker.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCTTACAGAGCTGAAAAGT	0.398			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1114-1116)cTc>cCc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							95.0	91.0	92.0					3																	105452941		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105452941A>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1115T>C	3.37:g.105452941A>G	ENSP00000264122:p.Leu372Pro					CBLB_ENST00000394027.3_Missense_Mutation_p.L394P|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.L372P|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P	p.L372P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			9	1436	-			372			Linker.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1115T>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333192	0.81801	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.56	5.56	0.83823	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.53671	1.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.978;0.94;0.991	D	0.98214	1.0474	10	0.87932	D	0	-10.3998	15.71	0.77620	1.0:0.0:0.0:0.0	.	394;372;372	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	P	372;394;372;372	ENSP00000264122:L372P;ENSP00000377595:L394P;ENSP00000384816:L372P;ENSP00000384938:L372P	ENSP00000264122:L372P	L	-	2	0	CBLB	106935631	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.909000	0.92647	2.118000	0.64928	0.477000	0.44152	CTC		0.398	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		20	52	0	0	0	1	0	20	52				
ZBTB20	26137	broad.mit.edu	37	3	114069124	114069124	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:114069124T>C	ENST00000474710.1	-	4	1979	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	ZBTB20_ENST00000462705.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	601						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)		CACTCACCTGTGTGTACGAAC	0.547																																					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.(1582-1584)Aca>Gca		zinc finger and BTB domain containing 20							145.0	144.0	144.0					3																	114069124		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069124T>C	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.1801A>G	3.37:g.114069124T>C	ENSP00000419153:p.Thr601Ala					ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T601A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A	p.T528A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2403	-			601					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1582A>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017331	0.75161	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.61387	1.9	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.49523	-0.8931	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	601	Q9HC78	ZBT20_HUMAN	A	528;528;528;528;601;528;528	ENSP00000420324:T528A;ENSP00000377375:T528A;ENSP00000418092:T528A;ENSP00000419902:T528A;ENSP00000419153:T601A;ENSP00000349803:T528A;ENSP00000417307:T528A	ENSP00000349803:T528A	T	-	1	0	ZBTB20	115551814	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.693000	0.84214	2.313000	0.78055	0.455000	0.32223	ACA		0.547	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		18	165	0	0	0	1	0	18	165				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	41	0	0	0	1	0	34	41				
NBR1	4077	broad.mit.edu	37	17	41352482	41352482	+	Silent	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:41352482A>G	ENST00000422280.1	+	17	2784	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	775					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTGGGCAGGAACCAGCTGAGG	0.617																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2323-2325)gaA>gaG		neighbor of BRCA1 gene 1							25.0	24.0	24.0					17																	41352482		1568	3582	5150	SO:0001819	synonymous_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41352482A>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2325A>G	17.37:g.41352482A>G						NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	p.E775E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	17	2784	+		Breast(137;0.00086)	775					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	c.2325A>G	CCDS45694.1																																																																																				0.617	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		21	19	0	0	0	1	0	21	19				
KIF1B	23095	broad.mit.edu	37	1	10386358	10386358	+	Silent	SNP	C	C	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:10386358C>G	ENST00000377086.1	+	27	3067	c.2865C>G	c.(2863-2865)ctC>ctG	p.L955L	KIF1B_ENST00000377081.1_Silent_p.L955L|KIF1B_ENST00000263934.6_Silent_p.L909L			O60333	KIF1B_HUMAN	kinesin family member 1B	955					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATCAGATCTCTTCAGTGACG	0.532																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2863-2865)ctC>ctG		kinesin family member 1B							135.0	115.0	122.0					1																	10386358		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386358C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2865C>G	1.37:g.10386358C>G						KIF1B_ENST00000377081.1_Silent_p.L955L|KIF1B_ENST00000263934.6_Silent_p.L909L	p.L955L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	3067	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	955					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2865C>G																																																																																					0.532	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			56	16	0	0	0	1	0	56	16				
UPK3B	80761	broad.mit.edu	37	7	76141108	76141108	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:76141108G>A	ENST00000257632.5	+	2	663	c.535G>A	c.(535-537)Gga>Aga	p.G179R	UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000419923.2_Missense_Mutation_p.G179R			Q9BT76	UPK3B_HUMAN	uroplakin 3B	179					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCGGGCAGCGGAGGCGCCCC	0.706																																						ENST00000419923.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(535-537)Gga>Aga		uroplakin 3B							8.0	8.0	8.0					7																	76141108		2189	4269	6458	SO:0001583	missense	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76141108G>A	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.535G>A	7.37:g.76141108G>A	ENSP00000257632:p.Gly179Arg					UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R|UPK3B_ENST00000257632.5_Missense_Mutation_p.G179R	p.G179R			Q9BT76	UPK3B_HUMAN			2	760	+		Myeloproliferative disorder(862;0.204)	179					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	c.535G>A	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.093559	0.36952	.	.	ENSG00000243566	ENST00000334348;ENST00000419923;ENST00000448265;ENST00000443097;ENST00000257632;ENST00000394849	T;T;T;T;T;T	0.55234	0.53;1.48;1.48;0.53;1.48;1.48	5.09	-1.04	0.10068	.	0.952565	0.08572	N	0.925973	T	0.43478	0.1249	N	0.14661	0.345	0.09310	N	1	D;D;P	0.69078	0.997;0.99;0.94	P;P;B	0.56865	0.808;0.692;0.288	T	0.29852	-0.9998	10	0.38643	T	0.18	-11.1786	4.4017	0.11390	0.3255:0.3037:0.3708:0.0	.	124;179;124	Q9BT76-2;Q9BT76;A6NHH5	.;UPK3B_HUMAN;.	R	124;179;179;124;179;124	ENSP00000334938:G124R;ENSP00000441602:G179R;ENSP00000441284:G179R;ENSP00000444585:G124R;ENSP00000257632:G179R;ENSP00000378319:G124R	ENSP00000257632:G179R	G	+	1	0	UPK3B	75979044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.722000	0.04958	-0.613000	0.05694	0.467000	0.42956	GGA		0.706	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		5	8	0	0	0	1	0	5	8				
FBXO15	201456	broad.mit.edu	37	18	71740936	71740936	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr18:71740936C>T	ENST00000419743.2	-	10	1372	c.1293G>A	c.(1291-1293)ttG>ttA	p.L431L	FBXO15_ENST00000269500.5_Silent_p.L355L|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	431						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CATGTTCATCCAAAAGAGTTA	0.453																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1063-1065)ttG>ttA		F-box protein 15							156.0	147.0	150.0					18																	71740936		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71740936C>T	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1293G>A	18.37:g.71740936C>T						FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.L431L	p.L355L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1400	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	355					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1065G>A	CCDS45884.1																																																																																				0.453	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		22	199	0	0	0	1	0	22	199				
PURB	5814	broad.mit.edu	37	7	44924342	44924342	+	Silent	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:44924342G>A	ENST00000395699.2	-	1	618	c.606C>T	c.(604-606)ggC>ggT	p.G202G	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	202	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.G202G(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						ctcccgggccgccTGCCAGCT	0.701																																						ENST00000395699.2																			1	Substitution - coding silent(1)	p.G202G(1)	large_intestine(1)	large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(604-606)ggC>ggT		purine-rich element binding protein B							14.0	19.0	17.0					7																	44924342		2194	4289	6483	SO:0001819	synonymous_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924342G>A		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.606C>T	7.37:g.44924342G>A							p.G202G	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	618	-			202			Gly-rich.		A4D2L7	Silent	SNP	ENST00000395699.2	37	c.606C>T	CCDS5499.1																																																																																				0.701	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		11	54	0	0	0	1	0	11	54				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	139	0	0	0	1	0	5	139				
FUT8	2530	broad.mit.edu	37	14	66083061	66083061	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:66083061A>G	ENST00000360689.5	+	5	2179	c.452A>G	c.(451-453)gAa>gGa	p.E151G	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	151					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATGCAGATGAATTTCTTTTG	0.323																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(451-453)gAa>gGa		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							75.0	80.0	79.0					14																	66083061		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66083061A>G	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.452A>G	14.37:g.66083061A>G	ENSP00000353910:p.Glu151Gly					FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR	p.E151G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	5	2179	+			151					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.452A>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377693	0.42105	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.24350	1.86;1.86;1.86	5.72	5.72	0.89469	.	0.097266	0.64402	D	0.000001	T	0.24198	0.0586	L	0.40543	1.245	0.80722	D	1	B	0.20988	0.05	B	0.21546	0.035	T	0.02533	-1.1145	10	0.46703	T	0.11	-17.1531	13.9443	0.64075	1.0:0.0:0.0:0.0	.	151	Q9BYC5	FUT8_HUMAN	G	151	ENSP00000353910:E151G;ENSP00000378087:E151G;ENSP00000378086:E151G	ENSP00000345865:E151G	E	+	2	0	FUT8	65152814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.272000	0.58908	2.176000	0.68965	0.455000	0.32223	GAA		0.323	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		5	113	0	0	0	1	0	5	113				
ELAVL1	1994	broad.mit.edu	37	19	8038658	8038658	+	Silent	SNP	A	A	G	rs549532291		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:8038658A>G	ENST00000407627.2	-	4	510	c.381T>C	c.(379-381)tcT>tcC	p.S127S	ELAVL1_ENST00000596459.1_Silent_p.S127S|ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	127	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCCAAACCGAGAGAACATGT	0.602													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18513	0.0		0.0	False		,,,				2504	0.0					ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(379-381)tcT>tcC		ELAV like RNA binding protein 1							166.0	129.0	141.0					19																	8038658		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8038658A>G	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.381T>C	19.37:g.8038658A>G						ELAVL1_ENST00000596459.1_Silent_p.S127S|ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S	p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			4	510	-			127			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.381T>C	CCDS12193.1																																																																																				0.602	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		12	69	0	0	0	1	0	12	69				
MEF2B	100271849	broad.mit.edu	37	19	19260143	19260143	+	Silent	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:19260143G>A	ENST00000602424.2	-	5	876	c.150C>T	c.(148-150)agC>agT	p.S50S	MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409447.2_Silent_p.S50S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	50	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGCGGTTGGCGCTGTTGAAGA	0.567																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(148-150)agC>agT		myocyte enhancer factor 2B							132.0	91.0	105.0					19																	19260143		2203	4300	6503	SO:0001819	synonymous_variant	100271849							g.chr19:19260143G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.150C>T	19.37:g.19260143G>A						MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2B_ENST00000409447.2_Silent_p.S50S	p.S50S	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		5	876	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	ENST00000602424.2	37	c.150C>T	CCDS12394.1																																																																																				0.567	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		21	35	0	0	0	1	0	21	35				
RYR2	6262	broad.mit.edu	37	1	237863644	237863644	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:237863644C>T	ENST00000366574.2	+	65	9561	c.9244C>T	c.(9244-9246)Cac>Tac	p.H3082Y	RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3082					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H3080N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGTTCACTCACACCCGAAA	0.493																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.H3080N(1)	ovary(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9244-9246)Cac>Tac		ryanodine receptor 2 (cardiac)							46.0	46.0	46.0					1																	237863644		1926	4134	6060	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863644C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9244C>T	1.37:g.237863644C>T	ENSP00000355533:p.His3082Tyr					RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y	p.H3082Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		65	9561	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3082					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9244C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994899	0.93167	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96830	-4.14;-4.11;-4.13	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000007	D	0.95924	0.8673	M	0.64404	1.975	0.80722	D	1	D	0.57571	0.98	P	0.46275	0.51	D	0.96244	0.9178	10	0.59425	D	0.04	.	18.6031	0.91256	0.0:1.0:0.0:0.0	.	3082	Q92736	RYR2_HUMAN	Y	3082;3080;3066;37;77	ENSP00000355533:H3082Y;ENSP00000353174:H3080Y;ENSP00000443798:H3066Y	ENSP00000353174:H3080Y	H	+	1	0	RYR2	235930267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.449000	0.82847	0.557000	0.71058	CAC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	3	0	0	0	1	0	6	3				
USP11	8237	broad.mit.edu	37	X	47107222	47107222	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:47107222C>T	ENST00000218348.3	+	21	2785	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	USP11_ENST00000377107.2_Missense_Mutation_p.R886C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	929	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTTCTACCAACGCCAGGACGT	0.637																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(2656-2658)Cgc>Tgc		ubiquitin specific peptidase 11							71.0	55.0	60.0					X																	47107222		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47107222C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2785C>T	X.37:g.47107222C>T	ENSP00000218348:p.Arg929Cys					USP11_ENST00000218348.3_Missense_Mutation_p.R929C	p.R886C			P51784	UBP11_HUMAN			21	3010	+			929					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2656C>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.238283	0.79800	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.58210	0.35;0.35	4.89	4.89	0.63831	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.45361	D	0.000370	T	0.61274	0.2334	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.66424	-0.5927	10	0.87932	D	0	-19.7832	15.8218	0.78654	0.0:1.0:0.0:0.0	.	655;929	B3KP28;P51784	.;UBP11_HUMAN	C	886;929	ENSP00000366311:R886C;ENSP00000218348:R929C	ENSP00000218348:R929C	R	+	1	0	USP11	46992166	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.344000	0.52174	2.247000	0.74100	0.431000	0.28591	CGC		0.637	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		33	61	0	0	0	1	0	33	61				
ZNF662	389114	broad.mit.edu	37	3	42956752	42956752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:42956752C>T	ENST00000541208.1	+	5	1556	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTGGGAAGGCCTTCAGTCAG	0.428																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1186-1188)gCc>gTc		zinc finger protein 662							60.0	60.0	60.0					3																	42956752		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956752C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1187C>T	3.37:g.42956752C>T	ENSP00000446208:p.Ala396Val					ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V|KRBOX1_ENST00000426937.1_Intron	p.A396V			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1556	+			396					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1187C>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657972	0.47467	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.36340	1.26;1.26;1.26	3.83	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37100	0.0991	L	0.31120	0.905	0.22803	N	0.998719	P;P	0.51791	0.936;0.948	P;P	0.54965	0.577;0.765	T	0.11690	-1.0577	9	0.87932	D	0	.	6.492	0.22121	0.2091:0.5876:0.2033:0.0	.	422;396	F8W7S8;Q6ZS27	.;ZN662_HUMAN	V	396;422;396	ENSP00000405047:A396V;ENSP00000329264:A422V;ENSP00000446208:A396V	ENSP00000329264:A422V	A	+	2	0	ZNF662	42931756	0.016000	0.18221	1.000000	0.80357	0.998000	0.95712	0.899000	0.28417	0.890000	0.36211	0.650000	0.86243	GCC		0.428	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		6	66	0	0	0	1	0	6	66				
NBEAL1	65065	broad.mit.edu	37	2	204001498	204001498	+	Splice_Site	SNP	G	G	A	rs531751889	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:204001498G>A	ENST00000449802.1	+	28	4811		c.e28+1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1											NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAAACTAACGTAAGCATTTA	0.348													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20267	0.0		0.0	False		,,,				2504	0.0					ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.e28+1		neurobeachin-like 1							110.0	105.0	106.0					2																	204001498		1867	4096	5963	SO:0001630	splice_region_variant	65065						binding	g.chr2:204001498G>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4478+1G>A	2.37:g.204001498G>A								NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			28	4811	+								A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Splice_Site	SNP	ENST00000449802.1	37		CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923294	0.52653	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9763	0.97309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL1	203709743	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	9.229000	0.95273	2.821000	0.97095	0.650000	0.86243	.		0.348	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		Intron	5	95	0	0	0	1	0	5	95				
OR1D5	8386	broad.mit.edu	37	17	2966516	2966516	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:2966516G>A	ENST00000575751.1	-	1	385	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	129					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						ATAGTGGAGGGGGCAGCAGGT	0.587																																						ENST00000575751.1																			0				kidney(1)|lung(10)	11						c.(385-387)cCc>cTc		olfactory receptor, family 1, subfamily D, member 5							62.0	70.0	67.0					17																	2966516		2189	4296	6485	SO:0001583	missense	8386				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:2966516G>A	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.386C>T	17.37:g.2966516G>A	ENSP00000459028:p.Pro129Leu						p.P129L	NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN			1	385	-			129					Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.386C>T	CCDS58499.1																																																																																				0.587	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		9	49	0	0	0	1	0	9	49				
DCST1	149095	broad.mit.edu	37	1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(793-795)cGc>cAc		DC-STAMP domain containing 1							175.0	132.0	147.0					1																	155014235		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014235G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His					DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	890	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		265					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.794G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC		0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		4	147	0	0	0	1	0	4	147				
OBSCN	84033	broad.mit.edu	37	1	228557667	228557667	+	Silent	SNP	C	C	T	rs373513763		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:228557667C>T	ENST00000422127.1	+	91	20036	c.19992C>T	c.(19990-19992)gcC>gcT	p.A6664A	OBSCN_ENST00000366707.4_Silent_p.A4298A|OBSCN_ENST00000570156.2_Silent_p.A7621A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCATTTGCCGGCGAGAGTG	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(22861-22863)gcC>gcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C		1,4073		0,1,2036	70.0	72.0	71.0		19992	-9.6	0.0	1		71	0,8370		0,0,4185	no	coding-synonymous	OBSCN	NM_001098623.1		0,1,6221	TT,TC,CC		0.0,0.0245,0.0080		6664/7969	228557667	1,12443	2037	4185	6222	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557667C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19992C>T	1.37:g.228557667C>T						OBSCN_ENST00000422127.1_Silent_p.A6664A|OBSCN_ENST00000366707.4_Silent_p.A4298A	p.A7621A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			102	22937	+		Prostate(94;0.0405)	6664			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.22863C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698889	0.15106	2.45E-4	0.0	ENSG00000154358	ENST00000441106	.	.	.	4.78	-9.57	0.00562	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77983	-0.2382	4	.	.	.	.	13.8779	0.63665	0.0:0.2492:0.6114:0.1394	.	.	.	.	W	1281	.	.	R	+	1	2	OBSCN	226624290	0.000000	0.05858	0.003000	0.11579	0.139000	0.21198	-3.517000	0.00444	-5.293000	0.00017	-2.766000	0.00121	CGG		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	103	0	0	0	1	0	4	103				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	128	0	0	0	1	0	5	128				
TBC1D4	9882	broad.mit.edu	37	13	75887015	75887015	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr13:75887015T>C	ENST00000377636.3	-	13	2588	c.2242A>G	c.(2242-2244)Agg>Ggg	p.R748G	TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	748	Ser-rich.				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)			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)		GATGAGGTCCTTTTTCTCCCT	0.502																																						ENST00000377636.3																			0				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.(2242-2244)Agg>Ggg		TBC1 domain family, member 4							66.0	69.0	68.0					13																	75887015		2034	4193	6227	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75887015T>C	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.2242A>G	13.37:g.75887015T>C	ENSP00000366863:p.Arg748Gly					TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G	p.R748G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	13	2588	-		Prostate(6;0.014)|Breast(118;0.0982)	748			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2242A>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090345	0.55968	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.53	1.58	0.23477	.	0.144113	0.48767	N	0.000164	T	0.57125	0.2032	L	0.52573	1.65	0.80722	D	1	P;B;P	0.48911	0.762;0.336;0.917	P;B;P	0.51742	0.503;0.333;0.678	T	0.54125	-0.8340	10	0.56958	D	0.05	-15.1196	8.0245	0.30430	0.0:0.0673:0.2433:0.6894	.	685;740;748	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	G	748;740;685;197	ENSP00000366863:R748G;ENSP00000395986:R740G;ENSP00000366852:R685G;ENSP00000396932:R197G	ENSP00000366852:R685G	R	-	1	2	TBC1D4	74785016	1.000000	0.71417	0.995000	0.50966	0.435000	0.31806	5.774000	0.68906	0.107000	0.17824	0.533000	0.62120	AGG		0.502	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		3	58	0	0	0	1	0	3	58				
PDGFRA	5156	broad.mit.edu	37	4	55141093	55141093	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr4:55141093T>C	ENST00000257290.5	+	12	2070	c.1739T>C	c.(1738-1740)cTg>cCg	p.L580P	FIP1L1_ENST00000507166.1_Splice_Site_p.L340P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	580					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCGATGCAGCTGCCTTATGAC	0.458			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1738-1740)cTg>cCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						95.0	94.0	95.0					4																	55141093		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141093T>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1739T>C	4.37:g.55141093T>C	ENSP00000257290:p.Leu580Pro	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Splice_Site_p.L340_splice	p.L580P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2070	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		580					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1739T>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455150	0.63401	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;D	0.97553	0.86;-4.43	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.000000	0.26231	U	0.025563	D	0.98770	0.9586	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.99755	1.1019	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	580;580	P16234-3;P16234	.;PGFRA_HUMAN	P	340;580	ENSP00000423325:L340P;ENSP00000257290:L580P	ENSP00000423325:L340P	L	+	2	0	FIP1L1;PDGFRA	54835850	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	7.967000	0.87967	2.308000	0.77769	0.533000	0.62120	CTG		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	72	0	0	0	1	0	5	72				
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1273-1275)cGc>cAc		integrin, alpha D							39.0	39.0	39.0					16																	31422117		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422117G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1274G>A	16.37:g.31422117G>A	ENSP00000373854:p.Arg425His						p.R425H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			12	1323	+			425					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1274G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	112	0	0	0	1	0	6	112				
MYO18B	84700	broad.mit.edu	37	22	26423239	26423239	+	Silent	SNP	C	C	T	rs554059290		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:26423239C>T	ENST00000407587.2	+	43	7471	c.7302C>T	c.(7300-7302)taC>taT	p.Y2434Y	MYO18B_ENST00000335473.7_Silent_p.Y2433Y|MYO18B_ENST00000536101.1_Silent_p.Y2433Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2433						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTCGACTACGAACGCAAGA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19203	0.0		0.0	False		,,,				2504	0.001					ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7297-7299)taC>taT		myosin XVIIIB							120.0	122.0	122.0					22																	26423239		2007	4167	6174	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423239C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7302C>T	22.37:g.26423239C>T						MYO18B_ENST00000407587.2_Silent_p.Y2434Y|MYO18B_ENST00000536101.1_Silent_p.Y2433Y	p.Y2433Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7549	+			2433					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7299C>T		.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315817	0.01331	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.79	-6.15	0.02105	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	.	14.2888	0.66263	0.0:0.3235:0.0:0.6765	.	.	.	.	M	383	.	.	T	+	2	0	MYO18B	24753239	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.730000	0.00805	-1.160000	0.02804	0.561000	0.74099	ACG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		52	125	0	0	0	1	0	52	125				
OTOL1	131149	broad.mit.edu	37	3	161221128	161221128	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:161221128G>A	ENST00000327928.4	+	4	832	c.832G>A	c.(832-834)Ggc>Agc	p.G278S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	278	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGCAAAAGCGGCCGTAATGG	0.542																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(832-834)Ggc>Agc		otolin 1							14.0	15.0	14.0					3																	161221128		1972	4145	6117	SO:0001583	missense	131149					collagen		g.chr3:161221128G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.832G>A	3.37:g.161221128G>A	ENSP00000330808:p.Gly278Ser						p.G278S	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			4	832	+			278			Collagen-like 3.			Missense_Mutation	SNP	ENST00000327928.4	37	c.832G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286808	0.59867	.	.	ENSG00000182447	ENST00000327928	D	0.99329	-5.75	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.88640	2.97	0.42093	D	0.991302	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	16.9549	0.86256	0.0:0.0:1.0:0.0	.	278	A6NHN0	OTOL1_HUMAN	S	278	ENSP00000330808:G278S	ENSP00000330808:G278S	G	+	1	0	OTOL1	162703822	1.000000	0.71417	0.090000	0.20809	0.002000	0.02628	5.736000	0.68597	2.320000	0.78422	0.557000	0.71058	GGC		0.542	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		4	20	0	0	0	1	0	4	20				
SH2D3A	10045	broad.mit.edu	37	19	6755032	6755032	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:6755032T>C	ENST00000245908.6	-	5	1060	c.791A>G	c.(790-792)gAg>gGg	p.E264G	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	264	Poly-Glu.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTCTTCCTCCTCATCCTCCTC	0.622																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(790-792)gAg>gGg		SH2 domain containing 3A							161.0	185.0	177.0					19																	6755032		2203	4298	6501	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755032T>C	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.791A>G	19.37:g.6755032T>C	ENSP00000245908:p.Glu264Gly					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	p.E264G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1060	-			264			Poly-Glu.		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.791A>G	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	T	9.039	0.989294	0.18966	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.34275	2.39;1.37	4.48	0.964	0.19655	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.39210	N	0.001434	T	0.37517	0.1006	L	0.28608	0.87	0.23487	N	0.997574	D;B	0.89917	1.0;0.001	D;B	0.85130	0.997;0.003	T	0.17258	-1.0375	10	0.41790	T	0.15	-1.6309	2.5155	0.04667	0.1483:0.0881:0.1539:0.6097	.	142;264	B4DRS7;Q9BRG2	.;SH23A_HUMAN	G	264;142	ENSP00000245908:E264G;ENSP00000393303:E142G	ENSP00000245908:E264G	E	-	2	0	SH2D3A	6706032	0.428000	0.25522	0.052000	0.19188	0.082000	0.17680	0.911000	0.28584	-0.206000	0.10203	0.379000	0.24179	GAG		0.622	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		8	463	0	0	0	1	0	8	463				
DFNA5	1687	broad.mit.edu	37	7	24747789	24747789	+	Missense_Mutation	SNP	G	G	A	rs369233573		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:24747789G>A	ENST00000342947.3	-	7	1372	c.947C>T	c.(946-948)gCg>gTg	p.A316V	DFNA5_ENST00000545231.1_Missense_Mutation_p.A152V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V|DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V|DFNA5_ENST00000559637.1_5'Flank|DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	316					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAATAGGACCGCCTGGAAGAT	0.512																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(454-456)gCg>gTg		deafness, autosomal dominant 5		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	98.0	78.0	85.0		947,455,947	-2.4	0.0	7		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	316/497,152/333,316/497	24747789	1,13005	2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24747789G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.947C>T	7.37:g.24747789G>A	ENSP00000339587:p.Ala316Val					DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V|DFNA5_ENST00000342947.3_Missense_Mutation_p.A316V|DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V	p.A152V			O60443	DFNA5_HUMAN			9	1605	-			316					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.455C>T	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.769885|1.769885	0.31320|0.31320	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105928|ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775|ENST00000415480;ENST00000446822	T;T;T;T;T|.	0.25414|.	1.8;1.8;1.8;1.8;1.8|.	5.93|5.93	-2.39|-2.39	0.06602|0.06602	.|.	1.112030|.	0.06588|.	N|.	0.751495|.	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.08055|.	0.003|.	T|T	0.25882|0.25882	-1.0119|-1.0119	10|5	0.33141|.	T|.	0.24|.	-0.1371|-0.1371	1.4133|1.4133	0.02296|0.02296	0.1954:0.1172:0.208:0.4795|0.1954:0.1172:0.208:0.4795	.|.	316|.	O60443|.	DFNA5_HUMAN|.	V|W	316;152;152;152;316|105;141	ENSP00000339587:A316V;ENSP00000401332:A152V;ENSP00000442661:A152V;ENSP00000387119:A152V;ENSP00000386670:A316V|.	ENSP00000339587:A316V|.	A|R	-|-	2|1	0|2	DFNA5|DFNA5	24714314|24714314	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.528000|-0.528000	0.06193|0.06193	-0.236000|-0.236000	0.09753|0.09753	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG		0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		3	39	0	0	0	1	0	3	39				
ASH2L	9070	broad.mit.edu	37	8	37976813	37976813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr8:37976813delA	ENST00000343823.6	+	9	1188	c.879delA	c.(877-879)ggafs	p.G293fs	ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	293					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GAAGCAGCGGAAAAGGACGAG	0.567																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(877-879)ggfs		ash2 (absent, small, or homeotic)-like (Drosophila)							55.0	48.0	50.0					8																	37976813		2126	4130	6256	SO:0001589	frameshift_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37976813delA	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.879delA	8.37:g.37976813delA	ENSP00000340896:p.Gly293fs					ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs	p.G293fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			9	1188	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	293					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Frame_Shift_Del	DEL	ENST00000343823.6	37	c.879delA	CCDS6101.1																																																																																				0.567	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		2	4						2	4	---	---	---	---
RP11-166B2.1	0	broad.mit.edu	37	16	12027545	12027545	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:12027545delG	ENST00000399147.4	-	4	316	c.317delC	c.(316-318)acafs	p.T106fs	RP11-166B2.1_ENST00000532936.1_Intron																lung(2)	2						TCTTTTCTTTGTGTGCATACA	0.448																																						ENST00000399147.4																			0				lung(2)	2						c.(316-318)aafs																																						SO:0001589	frameshift_variant	0							g.chr16:12027545delG																												ENST00000399147.4:c.317delC	16.37:g.12027545delG	ENSP00000382101:p.Thr106fs					RP11-166B2.1_ENST00000532936.1_Intron	p.T106fs							4	316	-									Frame_Shift_Del	DEL	ENST00000399147.4	37	c.317delC																																																																																					0.448	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000388781.3			7	178						7	178	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796882	42796883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:42796882_42796883insC	ENST00000575354.2	+	14	3380_3381	c.3340_3341insC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1113fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2022fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Insertion - Frameshift(1)	p.S1117fs*34(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6064-6066)cccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796882_42796883insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3347dupC	19.37:g.42796889_42796889dupC	ENSP00000458663:p.Ala1114fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs	p.P2022fs			Q96RK0	CIC_HUMAN			15	6132_6133	+		Prostate(69;0.00682)	1114					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.6064_6065insC	CCDS12601.1																																																																																				0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			53	41						53	41	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43057701	43057701	+	RNA	DEL	A	A	-	rs398041010|rs35431333		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:43057701delA	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		CAATTCCTGCaaaaaaaaaaa	0.468																																						ENST00000594688.1																			0																																																			0							g.chr19:43057701delA	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43057701delA						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.468	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		2	4						2	4	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Start_Codon_Ins	INS	-	-	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195				NOVA2_ENST00000599462.1_5'Flank	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2						regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21								neuro-oncological ventral antigen 2																																				SO:0001582	initiator_codon_variant	4858					nucleus	RNA binding	g.chr19:46476609_46476610insG	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.2dupC	19.37:g.46476617_46476617dupG								NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	0	194_195	-		all_neural(266;0.113)|Ovarian(192;0.127)						O43267|Q9UEA1	Translation_Start_Site	INS	ENST00000263257.5	37		CCDS12679.1																																																																																				0.762	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		3	3						3	3	---	---	---	---
