#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
B9D1	27077	broad.mit.edu	37	17	19247075	19247075	+	Intron	SNP	G	G	A	rs4924987	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr17:19247075G>A	ENST00000261499.4	-	6	616				B9D1_ENST00000395616.3_Intron|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000461069.2_Intron|B9D1_ENST00000395615.1_Intron|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000477478.2_Missense_Mutation_p.H143Y	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1						camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TATGGGGGATGGGGGTAAGAG	0.642													G|||	1555	0.310503	0.0726	0.5173	5008	,	,		16653	0.004		0.8121	False		,,,				2504	0.2853					ENST00000477478.2																			0				large_intestine(3)|urinary_tract(1)	4						c.(427-429)Cat>Tat		B9 protein domain 1		G		860,3546	329.9+/-301.2	90,680,1433	38.0	44.0	42.0			-0.6	0.0	17	dbSNP_111	42	6938,1662	729.9+/-406.7	2794,1350,156	no	intron	B9D1	NM_015681.3		2884,2030,1589	AA,AG,GG		19.3256,19.5188,40.0431			19247075	7798,5208	2203	4300	6503	SO:0001627	intron_variant	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19247075G>A	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.472+27C>T	17.37:g.19247075G>A						B9D1_ENST00000261499.4_Intron|B9D1_ENST00000395615.1_Intron|B9D1_ENST00000461069.2_Intron|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395616.3_Intron	p.H143Y			Q9UPM9	B9D1_HUMAN			6	760	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		125					Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.427C>T	CCDS11205.1																																																																																				0.642	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		4	60	0	0	0	1	0	4	60				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	19	0	0	0	1	0	3	19				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	9	112	0	0	0	1	0	9	112				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Splice_Site																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	9	117	0	0	0	1	0	9	117				
ANKRD30B	374860	broad.mit.edu	37	18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	rs9675365	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					ENST00000358984.4																			2	Substitution - Missense(2)	p.F477L(2)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1429-1431)ttC>ttG		ankyrin repeat domain 30B							167.0	153.0	157.0					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L|ANKRD30B_ENST00000579292.1_Intron	p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			11	1611	+			477		F -> L (in dbSNP:rs9675365).			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	39	0	0	0	1	0	4	39				
CACNA1C	775	broad.mit.edu	37	12	2797746	2797746	+	Missense_Mutation	SNP	G	G	A	rs112414325	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr12:2797746G>A	ENST00000347598.4	+	48	6062	c.6062G>A	c.(6061-6063)cGg>cAg	p.R2021Q	CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2044Q|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1993Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1998Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2044Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1973Q|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2001Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2014Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1990Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1979Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1973Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2056					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACCCTGCGGCTTGAGGGG	0.672													G|||	16	0.00319489	0.0	0.0	5008	,	,		15018	0.001		0.0	False		,,,				2504	0.0153					ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5917-5919)cGg>cAg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,3862		0,2,1930	46.0	54.0	52.0		5918,6062,6041,6023,6002,5978,5975,5975,5975,5969,5942,5942,5936,5918,5918,5918,5918,5909,5885,5918,6023,6098,6167	5.0	1.0	12	dbSNP_132	52	18,8226		0,18,4104	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43	0,20,6034	AA,AG,GG		0.2183,0.0518,0.1652	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1973/2139,2021/2187,2014/2180,2008/2174,2001/2167,1993/2159,1992/2158,1992/2158,1992/2158,1990/2156,1981/2147,1981/2147,1979/2145,1973/2139,1973/2139,1973/2139,1973/2139,1970/2136,1962/2128,1973/2139,2008/2174,2033/2199,2056/2222	2797746	20,12088	1932	4122	6054	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797746G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6062G>A	12.37:g.2797746G>A	ENSP00000266376:p.Arg2021Gln					CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2014Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2001Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1998Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1993Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R2021Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1979Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1990Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2008Q	p.R1973Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6183	+			2056					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5918G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015482	0.19355	5.18E-4	0.002183	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	4.97	4.97	0.65823	.	0.733016	0.12855	N	0.433660	T	0.49779	0.1577	L	0.39245	1.2	0.32878	D	0.510226	B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.56746	0.028;0.977;0.032;0.135;0.049;0.083;0.086;0.049;0.006;0.014;0.083;0.032;0.028;0.103;0.019;0.096;0.028;0.007;0.083;0.007;0.032;0.049;0.083;0.032;0.032	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.50490	0.009;0.642;0.005;0.007;0.016;0.016;0.01;0.01;0.009;0.003;0.016;0.005;0.007;0.025;0.002;0.033;0.007;0.009;0.016;0.004;0.003;0.016;0.01;0.005;0.005	T	0.43653	-0.9378	10	0.08599	T	0.76	.	12.6548	0.56782	0.0797:0.0:0.9203:0.0	.	664;2014;1970;2056;2008;1992;1973;1990;2001;1973;1993;1973;2004;2021;1973;2008;2044;1981;1979;1981;1962;1992;1992;1973;1973	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1998;1973;1973;2001;1973;1992;1992;1981;1973;2021;1993;1973;2014;1990;2008;1979;1992;1973;2044;2008;2044;1981;1874	ENSP00000336982:R1998Q;ENSP00000382563:R1973Q;ENSP00000382552:R1973Q;ENSP00000382547:R2001Q;ENSP00000382506:R1973Q;ENSP00000382530:R1992Q;ENSP00000382546:R1992Q;ENSP00000382500:R1981Q;ENSP00000382549:R1973Q;ENSP00000266376:R2021Q;ENSP00000382515:R1993Q;ENSP00000382510:R1973Q;ENSP00000341092:R2014Q;ENSP00000382537:R1990Q;ENSP00000329877:R2008Q;ENSP00000382557:R1979Q;ENSP00000385724:R1992Q;ENSP00000382512:R1973Q;ENSP00000382542:R2044Q;ENSP00000382526:R2008Q;ENSP00000385896:R2044Q;ENSP00000382504:R1981Q	ENSP00000323129:R1874Q	R	+	2	0	CACNA1C	2668007	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	2.549000	0.45803	2.311000	0.77944	0.462000	0.41574	CGG		0.672	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	82	0	0	0	1	0	8	82				
KIR2DL3	3804	broad.mit.edu	37	19	55249990	55249990	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs377409398		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr19:55249990C>A	ENST00000342376.3	+	0	11				KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_De_novo_Start_OutOfFrame	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3						immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGCGCGGCCGCCTGTCTGCAC	0.602											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21								killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3		C		107,3799		7,93,1853	46.0	53.0	51.0			0.1	0.1	19	dbSNP_119	51	95,7711		4,87,3812	no	utr-5	KIR2DL3	NM_015868.2		11,180,5665	AA,AC,CC		1.217,2.7394,1.7247			55249990	202,11510	1953	3903	5856			3804							g.chr19:55249990C>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.-21C>A	19.37:g.55249990C>A			OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1006	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_De_novo_Start_OutOfFrame		NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	0	11	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Translation_Start_Site	SNP	ENST00000342376.3	37		CCDS33107.1																																																																																				0.602	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			4	37	1	0	2.7689e-08	1	2.86438e-08	4	37				
NPAT	4863	broad.mit.edu	37	11	108032299	108032299	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr11:108032299A>G	ENST00000278612.8	-	17	3619	c.3514T>C	c.(3514-3516)Tgc>Cgc	p.C1172R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1172					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACATCGCTGCATAATTCATTC	0.363																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3514-3516)Tgc>Cgc		nuclear protein, ataxia-telangiectasia locus							165.0	158.0	160.0					11																	108032299		1825	4075	5900	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032299A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3514T>C	11.37:g.108032299A>G	ENSP00000278612:p.Cys1172Arg						p.C1172R	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3619	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1172					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3514T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	1.722	-0.496455	0.04291	.	.	ENSG00000149308	ENST00000278612	T	0.03607	3.87	6.07	2.51	0.30379	.	0.600734	0.18447	N	0.140959	T	0.02727	0.0082	L	0.39898	1.24	0.22050	N	0.999398	B	0.09022	0.002	B	0.06405	0.002	T	0.48068	-0.9067	10	0.07644	T	0.81	0.5969	4.2593	0.10733	0.3624:0.2091:0.4286:0.0	.	1172	Q14207	NPAT_HUMAN	R	1172	ENSP00000278612:C1172R	ENSP00000278612:C1172R	C	-	1	0	NPAT	107537509	0.004000	0.15560	0.946000	0.38457	0.983000	0.72400	0.694000	0.25512	0.559000	0.29153	0.528000	0.53228	TGC		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		18	160	0	0	0	1	0	18	160				
ZC3H11A	9877	broad.mit.edu	37	1	203816376	203816376	+	Silent	SNP	C	C	T			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:203816376C>T	ENST00000545588.1	+	12	4934	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	ZC3H11A_ENST00000367210.1_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367214.1_Silent_p.A369A|ZC3H11A_ENST00000367212.3_Silent_p.A369A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	369					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAAGAGCCAGTCAGAAAC	0.373																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1105-1107)gcC>gcT		zinc finger CCCH-type containing 11A							55.0	57.0	56.0					1																	203816376		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816376C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1107C>T	1.37:g.203816376C>T						ZC3H11A_ENST00000367212.3_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367210.1_Silent_p.A369A|ZC3H11A_ENST00000367214.1_Silent_p.A369A	p.A369A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	4934	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		369					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1107C>T	CCDS30978.1																																																																																				0.373	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		6	55	0	0	0	1	0	6	55				
BAGE2	85319	broad.mit.edu	37	21	11098733	11098733	+	RNA	SNP	G	G	A			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr21:11098733G>A	ENST00000470054.1	-	0	192							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgctccggccgccatcttact	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							104.0	151.0	135.0					21																	11098733		2124	4261	6385			85319							g.chr21:11098733G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098733G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	192	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	82	0	0	0	1	0	8	82				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		5	33	0	0	0	1	0	5	33				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		9	18	0	0	0	1	0	9	18				
RP11-38L15.8	0	broad.mit.edu	37	10	46914641	46914641	+	lincRNA	SNP	T	T	C	rs7075258	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr10:46914641T>C	ENST00000605984.1	-	0	319				FAM35BP_ENST00000475914.1_RNA																							CGAAGGATGATTTTGGAGGCA	0.433													T|||	609	0.121605	0.211	0.0821	5008	,	,		20573	0.0546		0.1193	False		,,,				2504	0.1002					ENST00000605984.1																			0																																																			0							g.chr10:46914641T>C																													10.37:g.46914641T>C						FAM35BP_ENST00000475914.1_RNA								0	319	-									RNA	SNP	ENST00000605984.1	37																																																																																						0.433	RP11-38L15.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471245.1			3	14	0	0	0	1	0	3	14				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	80	0	0	0	1	0	6	80				
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr9:117783441C>T	ENST00000350763.4	-	28	7012	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2201					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6601-6603)Gca>Aca		tenascin C							128.0	114.0	119.0					9																	117783441		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783441C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6601G>A	9.37:g.117783441C>T	ENSP00000265131:p.Ala2201Thr					TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T	p.A2201T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			28	7012	-			2201					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6601G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467852	0.84533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.54071	0.62;0.64;0.87;0.87;0.64;0.73;0.63;0.87;0.59	5.29	4.38	0.52667	.	0.120458	0.64402	D	0.000018	T	0.49541	0.1563	N	0.11927	0.2	0.25781	N	0.984723	D;D	0.55605	0.972;0.972	P;P	0.57720	0.826;0.826	T	0.48636	-0.9018	10	0.32370	T	0.25	.	15.1678	0.72842	0.1423:0.8577:0.0:0.0	.	1928;2201	E9PC84;P24821	.;TENA_HUMAN	T	1837;1746;1655;1564;2201;2019;1928;1564;1838	ENSP00000344400:A1837T;ENSP00000438152:A1746T;ENSP00000344555:A1655T;ENSP00000345861:A1564T;ENSP00000265131:A2201T;ENSP00000339553:A2019T;ENSP00000411406:A1928T;ENSP00000443478:A1564T;ENSP00000442242:A1838T	ENSP00000344400:A1837T	A	-	1	0	TNC	116823262	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.814000	0.62627	1.205000	0.43262	0.655000	0.94253	GCA		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		4	61	0	0	0	1	0	4	61				
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		8	16						8	16	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			7	5						7	5	---	---	---	---
LOC150776	150776	broad.mit.edu	37	2	132266282	132266282	+	RNA	DEL	G	G	-	rs35012291	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr2:132266282delG	ENST00000438378.2	+	0	1234					NR_026922.1																						GCTGGATGGTGGGAAGCAGAA	0.547													|||unknown(NO_COVERAGE)	1676	0.334665	0.1346	0.4265	5008	,	,		18092	0.6806		0.2197	False		,,,				2504	0.3016					ENST00000438378.2																			0																																																			0							g.chr2:132266282delG																													2.37:g.132266282delG								NR_026922.1						0	1234	+									RNA	DEL	ENST00000438378.2	37																																																																																						0.547	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			5	6						5	6	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157100302	157100302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr6:157100302delG	ENST00000350026.5	+	1	1240	c.1239delG	c.(1237-1239)tcgfs	p.S413fs	RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	413	Ala-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCACCCGTCGGGGGCCACCC	0.771																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1237-1239)tcfs		AT rich interactive domain 1B (SWI1-like)							5.0	5.0	5.0					6																	157100302		1734	3499	5233	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100302delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1239delG	6.37:g.157100302delG	ENSP00000055163:p.Ser413fs					ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs	p.S413fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1240	+		Breast(66;0.000162)|Ovarian(120;0.0265)	413			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.1239delG	CCDS5251.2																																																																																				0.771	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		2	4						2	4	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	165						7	165	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	342						7	342	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			8	19						8	19	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	lincRNA	DEL	TG	TG	-	rs144024329		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401																																						ENST00000598131.1																			0																																																			0							g.chr19:20634038_20634039delTG																													19.37:g.20634048_20634049delTG														0	160	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.401	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			8	69						8	69	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	178						7	178	---	---	---	---
