#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	127	0	0	0	1	0	4	127				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000564451.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000567960.1_RNA								0	931	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	32	0	0	0	1	0	5	32				
PARD3B	117583	broad.mit.edu	37	2	205829978	205829978	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:205829978C>T	ENST00000406610.2	+	3	533	c.326C>T	c.(325-327)gCc>gTc	p.A109V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A109V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	109					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGAAGTGGCCGCCCAACTG	0.468																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(325-327)gCc>gTc		par-3 family cell polarity regulator beta							76.0	79.0	78.0					2																	205829978		1847	4089	5936	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205829978C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.326C>T	2.37:g.205829978C>T	ENSP00000385848:p.Ala109Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A109V	p.A109V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	3	533	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	109					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.326C>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397412	0.83120	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.8	5.8	0.92144	.	0.065695	0.64402	D	0.000015	T	0.59321	0.2185	L	0.39898	1.24	0.36538	D	0.871124	D;D;P;D;D	0.89917	0.999;1.0;0.87;0.983;0.991	D;D;P;P;P	0.83275	0.996;0.996;0.681;0.857;0.857	T	0.63373	-0.6652	10	0.59425	D	0.04	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	109;109;109;109;109	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	109	ENSP00000385848:A109V;ENSP00000351618:A109V;ENSP00000317261:A109V;ENSP00000340280:A109V	ENSP00000340280:A109V	A	+	2	0	PARD3B	205538223	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	5.359000	0.66074	2.737000	0.93849	0.563000	0.77884	GCC		0.468	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		4	56	0	0	0	1	0	4	56				
MGA	23269	broad.mit.edu	37	15	42035001	42035001	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:42035001A>G	ENST00000570161.1	+	14	4843	c.4843A>G	c.(4843-4845)Atg>Gtg	p.M1615V	MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.M1615V|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACACCTATGACTGCTAT	0.463																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4843-4845)Atg>Gtg		MGA, MAX dimerization protein							90.0	87.0	88.0					15																	42035001		1901	4128	6029	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035001A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4843A>G	15.37:g.42035001A>G	ENSP00000457035:p.Met1615Val					MGA_ENST00000570161.1_Missense_Mutation_p.M1615V|MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V|MGA_ENST00000566586.1_Intron	p.M1615V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5024	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1615			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4843A>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	0.063	-1.220418	0.01530	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.82711	-1.62;-1.64	4.96	-0.125	0.13519	.	1.732920	0.03004	N	0.148557	T	0.63498	0.2516	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58216	-0.7675	10	0.19147	T	0.46	.	1.4246	0.02320	0.4018:0.1509:0.3088:0.1385	.	231;1615	B4DVS1;E7ENI0	.;.	V	1615	ENSP00000219905:M1615V;ENSP00000374586:M1615V	ENSP00000219905:M1615V	M	+	1	0	MGA	39822293	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.778000	0.26732	0.058000	0.16222	0.460000	0.39030	ATG		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		16	36	0	0	0	1	0	16	36				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	24	0	0	0	1	0	3	24				
HMCN1	83872	broad.mit.edu	37	1	186008083	186008083	+	Missense_Mutation	SNP	G	G	A	rs558576428		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr1:186008083G>A	ENST00000271588.4	+	38	6203	c.5974G>A	c.(5974-5976)Gtg>Atg	p.V1992M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1992	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATAAATGCGTGGCCATCAA	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15750	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5974-5976)Gtg>Atg		hemicentin 1							109.0	101.0	104.0					1																	186008083		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008083G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5974G>A	1.37:g.186008083G>A	ENSP00000271588:p.Val1992Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M	p.V1992M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			38	6203	+			1992			Ig-like C2-type 17.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5974G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084412	0.36758	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.85	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126219	0.52532	N	0.000064	T	0.62514	0.2434	M	0.70842	2.15	0.49687	D	0.999814	B	0.31611	0.331	B	0.29524	0.103	T	0.61978	-0.6951	10	0.42905	T	0.14	.	11.4211	0.49982	0.2008:0.0:0.7992:0.0	.	1992	Q96RW7	HMCN1_HUMAN	M	1992	ENSP00000271588:V1992M;ENSP00000356462:V1992M	ENSP00000271588:V1992M	V	+	1	0	HMCN1	184274706	1.000000	0.71417	0.999000	0.59377	0.536000	0.34869	2.296000	0.43584	0.831000	0.34780	-0.136000	0.14681	GTG		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	80	0	0	0	1	0	4	80				
DNER	92737	broad.mit.edu	37	2	230272009	230272009	+	Silent	SNP	G	G	A	rs528523117	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:230272009G>A	ENST00000341772.4	-	10	1796	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	554	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGTGGCTCCGTTCAGACAGC	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19008	0.001		0.0	False		,,,				2504	0.0					ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1660-1662)aaC>aaT		delta/notch-like EGF repeat containing							137.0	120.0	126.0					2																	230272009		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272009G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1662C>T	2.37:g.230272009G>A							p.N554N	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1796	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	554			EGF-like 9.|Follistatin-like.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.1662C>T	CCDS33390.1																																																																																				0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		22	57	0	0	0	1	0	22	57				
RGN	9104	broad.mit.edu	37	X	46951083	46951083	+	Missense_Mutation	SNP	G	G	T	rs147490967	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chrX:46951083G>T	ENST00000352078.4	+	5	914	c.569G>T	c.(568-570)cGc>cTc	p.R190L	RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000397180.1_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	190					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATAGCCAACCGCAGAAGTGTT	0.428																																						ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(568-570)cGc>cTc		regucalcin							108.0	102.0	104.0					X																	46951083		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951083G>T	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.569G>T	X.37:g.46951083G>T	ENSP00000253303:p.Arg190Leu					RGN_ENST00000352078.4_Missense_Mutation_p.R190L|RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L	p.R190L	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			6	1538	+			190					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.569G>T	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360674	0.82353	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.29917	1.55;1.62;1.55;1.55	6.02	6.02	0.97574	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.048497	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88450	2.955	0.80722	D	1	P;D	0.56287	0.866;0.975	B;P	0.55260	0.269;0.772	T	0.64114	-0.6483	10	0.62326	D	0.03	-25.4877	15.8082	0.78531	0.0:0.1414:0.8586:0.0	.	118;190	Q15493-2;Q15493	.;RGN_HUMAN	L	190;118;190;190	ENSP00000380365:R190L;ENSP00000406568:R118L;ENSP00000253303:R190L;ENSP00000338400:R190L	ENSP00000338400:R190L	R	+	2	0	RGN	46836027	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	2.641000	0.46587	2.555000	0.86185	0.591000	0.81541	CGC		0.428	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		3	21	1	0	0.004672	1	0.0049056	3	21				
CD300C	10871	broad.mit.edu	37	17	72539104	72539104	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr17:72539104G>T	ENST00000330793.1	-	3	783	c.423C>A	c.(421-423)agC>agA	p.S141R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	141	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTCTGGGGGCTGGAGGCTG	0.607																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(421-423)agC>agA		CD300c molecule							115.0	100.0	105.0					17																	72539104		2203	4300	6503	SO:0001583	missense	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539104G>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.423C>A	17.37:g.72539104G>T	ENSP00000329507:p.Ser141Arg						p.S141R	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			3	783	-			141			Pro-rich.			Missense_Mutation	SNP	ENST00000330793.1	37	c.423C>A	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	G	3.458	-0.110515	0.06924	.	.	ENSG00000167850	ENST00000330793	T	0.03607	3.87	3.23	0.0747	0.14396	.	1.890310	0.02996	N	0.147527	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.30741	0.293	B	0.27076	0.076	T	0.41124	-0.9526	10	0.36615	T	0.2	.	5.3769	0.16170	0.3979:0.0:0.6021:0.0	.	141	Q08708	CLM6_HUMAN	R	141	ENSP00000329507:S141R	ENSP00000329507:S141R	S	-	3	2	CD300C	70050699	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.448000	0.06820	0.069000	0.16605	0.306000	0.20318	AGC		0.607	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		7	29	1	0	0.00448238	1	0.0049056	7	29				
TTC17	55761	broad.mit.edu	37	11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2809-2811)gCc>gTc		tetratricopeptide repeat domain 17							121.0	112.0	115.0					11																	43471655		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43471655C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2810C>T	11.37:g.43471655C>T	ENSP00000039989:p.Ala937Val						p.A937V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			20	2824	+			937					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2810C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC		0.473	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		4	93	0	0	0	1	0	4	93				
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A	rs569298803	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0.0	5008	,	,		18962	0.001		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		AHNAK nucleoprotein 2							151.0	165.0	160.0					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11811C>T	14.37:g.105409977G>A						AHNAK2_ENST00000557457.1_Intron	p.D3937D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11930	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	289	0	0	0	1	0	6	289				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																197331							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	31	0	0	0	1	0	8	31				
MYADM	91663	broad.mit.edu	37	19	54377573	54377573	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:54377573G>A	ENST00000391769.2	+	3	1070	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	264	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.D264Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CTACCAGTTCGATGAGAAGTA	0.637																																						ENST00000391769.2																			1	Substitution - Missense(1)	p.D264Y(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(790-792)Gat>Aat		myeloid-associated differentiation marker							70.0	63.0	65.0					19																	54377573		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377573G>A	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.790G>A	19.37:g.54377573G>A	ENSP00000375649:p.Asp264Asn					MYADM_ENST00000391771.1_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N|MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N	p.D264N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	1070	+	Ovarian(34;0.19)		264			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.790G>A	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067601	0.55539	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.3	-5.11	0.02901	Marvel (1);MARVEL-like domain (1);	0.124423	0.50627	N	0.000103	T	0.13884	0.0336	L	0.42581	1.335	0.45330	D	0.99832	B	0.11235	0.004	B	0.04013	0.001	T	0.17471	-1.0368	10	0.16896	T	0.51	-17.5899	6.5573	0.22468	0.4965:0.1257:0.3778:0.0	.	264	Q96S97	MYADM_HUMAN	N	264;264;264;227;264;264	ENSP00000337222:D264N;ENSP00000375650:D264N;ENSP00000375651:D264N;ENSP00000375649:D264N;ENSP00000375648:D264N	ENSP00000337222:D264N	D	+	1	0	MYADM	59069385	0.017000	0.18338	0.036000	0.18154	0.489000	0.33432	0.633000	0.24598	-0.848000	0.04163	0.305000	0.20034	GAT		0.637	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		3	42	0	0	0	1	0	3	42				
RNF17	56163	broad.mit.edu	37	13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4612-4614)Cgg>Tgg		ring finger protein 17							79.0	82.0	81.0					13																	25451163		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25451163C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4612C>T	13.37:g.25451163C>T	ENSP00000255324:p.Arg1538Trp					RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	p.R1538W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4664	+		Lung SC(185;0.0225)|Breast(139;0.077)	1538			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4612C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149514	0.57151	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09911	2.93;2.93;2.93	5.66	2.7	0.31948	Tudor subgroup (1);Maternal tudor protein (1);	0.524360	0.17164	N	0.184547	T	0.15003	0.0362	L	0.29908	0.895	0.80722	D	1	D;D;B;D	0.76494	0.998;0.98;0.023;0.999	P;P;B;P	0.56916	0.663;0.72;0.004;0.809	T	0.03148	-1.1067	10	0.72032	D	0.01	-0.586	9.3923	0.38381	0.271:0.6531:0.0:0.0759	.	1534;548;1532;1538	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	W	1538;1496;548	ENSP00000255324:R1538W;ENSP00000371346:R1496W;ENSP00000344776:R548W	ENSP00000255324:R1538W	R	+	1	2	RNF17	24349163	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	1.157000	0.31724	1.384000	0.46424	0.555000	0.69702	CGG		0.403	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		4	72	0	0	0	1	0	4	72				
RPS27L	51065	broad.mit.edu	37	15	63447932	63447932	+	Splice_Site	SNP	T	T	C	rs368882344		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:63447932T>C	ENST00000455271.1	-	3	604		c.e3-2		RPS27L_ENST00000330964.5_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000559763.1_5'Flank|RPS27L_ENST00000462430.1_Splice_Site					ribosomal protein S27-like											large_intestine(1)	1						TGTAGCAACCTAAAAAAAAAA	0.398																																						ENST00000330964.5																			0				large_intestine(1)	1						c.e3-2		ribosomal protein S27-like							43.0	41.0	42.0					15																	63447932		1842	4091	5933	SO:0001630	splice_region_variant	51065				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity	g.chr15:63447932T>C	BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000455271.1:c.20-2A>G	15.37:g.63447932T>C						RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000455271.1_Splice_Site|RPS27L_ENST00000462430.1_Splice_Site		NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN			3	512	-									Splice_Site	SNP	ENST00000455271.1	37			.	.	.	.	.	.	.	.	.	.	T	19.97	3.925467	0.73213	.	.	ENSG00000185088	ENST00000330964;ENST00000455271;ENST00000411926;ENST00000439025	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6899	0.69076	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS27L	61234985	1.000000	0.71417	0.963000	0.40424	0.910000	0.53928	5.859000	0.69539	2.152000	0.67230	0.528000	0.53228	.		0.398	RPS27L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339349.2	NM_015920	Intron	4	17	0	0	0	1	0	4	17				
JARID2	3720	broad.mit.edu	37	6	15501192	15501192	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr6:15501192G>A	ENST00000341776.2	+	8	2244	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	JARID2_ENST00000541660.1_Missense_Mutation_p.G629D|JARID2_ENST00000397311.3_Missense_Mutation_p.G495D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	667	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGATGGGCGGCATGCAGCAA	0.562																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1999-2001)gGc>gAc		jumonji, AT rich interactive domain 2							102.0	107.0	105.0					6																	15501192		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501192G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2000G>A	6.37:g.15501192G>A	ENSP00000341280:p.Gly667Asp					JARID2_ENST00000397311.3_Missense_Mutation_p.G495D|JARID2_ENST00000541660.1_Missense_Mutation_p.G629D	p.G667D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2244	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	667			ARID.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2000G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812503	0.90707	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87887	-2.31;-2.31;-2.31	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94181	0.7432	10	0.87932	D	0	-12.4643	18.621	0.91321	0.0:0.0:1.0:0.0	.	629;667	F5H590;Q92833	.;JARD2_HUMAN	D	667;495;629	ENSP00000341280:G667D;ENSP00000380478:G495D;ENSP00000444623:G629D	ENSP00000341280:G667D	G	+	2	0	JARID2	15609171	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.624000	0.98398	2.396000	0.81511	0.561000	0.74099	GGC		0.562	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		4	124	0	0	0	1	0	4	124				
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T	rs535674511	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		9042	0.002		0.0	False		,,,				2504	0.0				Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			1	Substitution - coding silent(1)	p.G552G(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1654-1656)ggC>ggT		AT rich interactive domain 3A (BRIGHT-like)							22.0	30.0	28.0					19																	971939		2198	4283	6481	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971939C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	19.37:g.971939C>T							p.G552G	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1983	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	552			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.1656C>T	CCDS12050.1																																																																																				0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	37	0	0	0	1	0	3	37				
CACNA1D	776	broad.mit.edu	37	3	53757871	53757879	+	In_Frame_Del	DEL	TCCATCGCT	TCCATCGCT	-	rs139269186		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr3:53757871_53757879delTCCATCGCT	ENST00000350061.5	+	14	2456_2464	c.1945_1953delTCCATCGCT	c.(1945-1953)tccatcgctdel	p.SIA649del	CACNA1D_ENST00000288139.4_In_Frame_Del_p.SIA669del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.SIA649del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	649					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCATGAAGTCCATCGCTTCGCTGTTGC	0.455																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2005-2013)del		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757871_53757879delTCCATCGCT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1945_1953delTCCATCGCT	3.37:g.53757871_53757879delTCCATCGCT	ENSP00000288133:p.Ser649_Ala651del					CACNA1D_ENST00000422281.2_In_Frame_Del_p.SIA649del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.SIA649del	p.SIA669del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2123_2131	+			649					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	In_Frame_Del	DEL	ENST00000350061.5	37	c.2005_2013delTCCATCGCT	CCDS46848.1																																																																																				0.455	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		19	113						19	113	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14652983	14652983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr7:14652983delC	ENST00000403951.2	-	16	1762	c.1343delG	c.(1342-1344)ggtfs	p.G449fs	DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	449	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTTTTCCACCACTTTTGGG	0.318																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1342-1344)gtfs		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						42.0	42.0	42.0					7																	14652983		1814	4065	5879	SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14652983delC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1343delG	7.37:g.14652983delC	ENSP00000385780:p.Gly449fs					DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs	p.G449fs			Q9Y6T7	DGKB_HUMAN			16	1762	-			449			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Del	DEL	ENST00000403951.2	37	c.1343delG	CCDS47547.1																																																																																				0.318	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		2	4						2	4	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101730036	101730037	+	Frame_Shift_Ins	INS	-	-	C	rs545344384	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr8:101730036_101730037insC	ENST00000318607.5	-	3	1595_1596	c.467_468insG	c.(466-468)gaafs	p.E156fs	PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTCATTTTTTCAATAGCTCT	0.337													-|-|C|insertion	726	0.144968	0.2133	0.1124	5008	,	,		20837	0.0764		0.0825	False		,,,				2504	0.2106					ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(466-468)gaafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730036_101730037insC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.467_468insG	8.37:g.101730036_101730037insC	ENSP00000313007:p.Glu156fs					PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs	p.E156fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		3	1595_1596	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		156			RRM 2.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.467_468insG	CCDS6289.1																																																																																				0.337	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		7	59						7	59	---	---	---	---
