#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
ERICH3	127254	broad.mit.edu	37	1	75038567	75038567	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:75038567C>T	ENST00000326665.5	-	14	3045	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		943	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCACTTTCTCCGACATCACTC	0.547																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2827-2829)Gga>Aga		chromosome 1 open reading frame 173							145.0	142.0	143.0					1																	75038567		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038567C>T																												ENST00000326665.5:c.2827G>A	1.37:g.75038567C>T	ENSP00000322609:p.Gly943Arg					C1orf173_ENST00000433746.2_5'UTR	p.G943R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3045	-			943			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2827G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848927	0.17034	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	4.97	-1.53	0.08611	.	.	.	.	.	T	0.01627	0.0052	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.47995	-0.9073	9	0.16896	T	0.51	-0.0454	7.2693	0.26248	0.0:0.5435:0.1084:0.348	.	943	Q5RHP9	CA173_HUMAN	R	943	ENSP00000322609:G943R	ENSP00000322609:G943R	G	-	1	0	C1orf173	74811155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.685000	0.05167	-0.671000	0.05274	-2.780000	0.00118	GGA		0.547	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			10	130	0	0	0	1	0	10	130				
SYT11	23208	broad.mit.edu	37	1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:155851027C>T	ENST00000368324.4	+	4	1277	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	342	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGCAGAAAGCGCATTGCCAA	0.468																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1024-1026)Cgc>Tgc		synaptotagmin XI							234.0	247.0	243.0					1																	155851027		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851027C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1024C>T	1.37:g.155851027C>T	ENSP00000357307:p.Arg342Cys					SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	p.R342C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1277	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		342			C2 2.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1024C>T	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508183	0.85282	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.72725	-0.68;-0.68	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86669	0.1909	10	0.87932	D	0	.	13.4247	0.61018	0.157:0.843:0.0:0.0	.	342	Q9BT88	SYT11_HUMAN	C	342;35	ENSP00000357307:R342C;ENSP00000441657:R35C	ENSP00000357307:R342C	R	+	1	0	SYT11	154117651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.809000	0.55606	2.691000	0.91804	0.655000	0.94253	CGC		0.468	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		26	233	0	0	0	1	0	26	233				
IFT27	11020	broad.mit.edu	37	22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:37163883C>T	ENST00000433985.2	-	2	478	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IFT27_ENST00000340630.5_Missense_Mutation_p.A19T|IFT27_ENST00000453009.2_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	20					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512																																						ENST00000340630.5																			0				endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(55-57)Gcc>Acc		intraflagellar transport 27 homolog (Chlamydomonas)							210.0	198.0	202.0					22																	37163883		2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163883C>T	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.58G>A	22.37:g.37163883C>T	ENSP00000393541:p.Ala20Thr					IFT27_ENST00000433985.2_Missense_Mutation_p.A20T|IFT27_ENST00000453009.2_5'UTR	p.A19T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	500	-			20					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.55G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231071	0.39399	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	3.46	0.39613	Small GTP-binding protein domain (1);	0.209151	0.41294	D	0.000903	T	0.76111	0.3942	L	0.49126	1.545	0.80722	D	1	D;P;P;P	0.69078	0.997;0.899;0.954;0.835	P;B;B;B	0.57960	0.83;0.236;0.313;0.416	T	0.75897	-0.3155	10	0.49607	T	0.09	.	8.4676	0.32966	0.0:0.8151:0.0:0.1849	.	59;19;20;19	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	T	19;20;59;19	ENSP00000343593:A19T;ENSP00000393541:A20T;ENSP00000392016:A59T;ENSP00000390016:A19T	ENSP00000343593:A19T	A	-	1	0	IFT27	35493829	0.763000	0.28462	0.921000	0.36526	0.487000	0.33371	1.307000	0.33516	2.060000	0.61445	0.561000	0.74099	GCC		0.512	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		13	218	0	0	0	1	0	13	218				
NEU2	4759	broad.mit.edu	37	2	233899740	233899740	+	Silent	SNP	C	C	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr2:233899740C>A	ENST00000233840.3	+	2	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	372					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TGAAGCAAGCCTTCCCAGCTG	0.597																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(1114-1116)gcC>gcA		sialidase 2 (cytosolic sialidase)							118.0	123.0	121.0					2																	233899740		2203	4299	6502	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899740C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1116C>A	2.37:g.233899740C>A							p.A372A	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1116	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	372					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.1116C>A	CCDS2501.1																																																																																				0.597	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		7	136	1	0	5.18039e-06	1	5.68172e-06	7	136				
USP48	84196	broad.mit.edu	37	1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C|USP48_ENST00000421625.2_Missense_Mutation_p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	299	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTCAAAGACAAAACGCATTAG	0.368																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(895-897)tTt>tGt		ubiquitin specific peptidase 48							167.0	141.0	150.0					1																	22074643		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22074643A>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.896T>G	1.37:g.22074643A>C	ENSP00000309262:p.Phe299Cys					USP48_ENST00000421625.2_Missense_Mutation_p.F299C|USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C	p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	7	1544	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	299					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.896T>G	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180808	0.78677	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.55	5.55	0.83447	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	H	0.94734	3.575	0.80722	D	1	D;P;D;D;D;D	0.89917	0.999;0.925;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.79108	0.973;0.77;0.956;0.991;0.982;0.992	D	0.84048	0.0368	10	0.87932	D	0	.	14.8759	0.70493	1.0:0.0:0.0:0.0	.	299;299;299;299;299;299	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	C	299	ENSP00000383157:F299C;ENSP00000309262:F299C;ENSP00000431949:F299C;ENSP00000406256:F299C	ENSP00000309262:F299C	F	-	2	0	USP48	21947230	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.248000	0.95456	2.101000	0.63845	0.460000	0.39030	TTT		0.368	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		3	47	0	0	0	1	0	3	47				
FLG	2312	broad.mit.edu	37	1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:152276820G>C	ENST00000368799.1	-	3	10577	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3514	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCCGCCTGAG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10540-10542)gaC>gaG		filaggrin							226.0	221.0	222.0					1																	152276820		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276820G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10542C>G	1.37:g.152276820G>C	ENSP00000357789:p.Asp3514Glu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.D3514E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10577	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3514			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10542C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.067	0.996024	0.19043	.	.	ENSG00000143631	ENST00000368799	T	0.08634	3.07	2.77	-0.976	0.10286	.	.	.	.	.	T	0.04272	0.0118	L	0.52126	1.63	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.12319	-1.0552	9	0.02654	T	1	.	5.0193	0.14352	0.0:0.1689:0.3167:0.5144	.	3514	P20930	FILA_HUMAN	E	3514	ENSP00000357789:D3514E	ENSP00000357789:D3514E	D	-	3	2	FLG	150543444	0.052000	0.20516	0.000000	0.03702	0.046000	0.14306	0.711000	0.25764	-0.371000	0.08004	-0.551000	0.04211	GAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	281	0	0	0	1	0	15	281				
FCGR2A	2212	broad.mit.edu	37	1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:161480636G>T	ENST00000271450.6	+	5	670	c.632G>T	c.(631-633)gGc>gTc	p.G211V	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	211					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCATGGGCAGCTCTTCA	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(631-633)gGc>gTc		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						213.0	210.0	211.0					1																	161480636		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480636G>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.632G>T	1.37:g.161480636G>T	ENSP00000271450:p.Gly211Val					FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	p.G211V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	670	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		211					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.632G>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	4.329	0.060442	0.08339	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01981	4.52;4.52	2.25	1.32	0.21799	.	8.365550	0.00166	N	0.000001	T	0.00875	0.0029	L	0.36672	1.1	0.26292	N	0.978114	B;B	0.15141	0.002;0.012	B;B	0.19666	0.005;0.026	T	0.46527	-0.9185	9	0.51188	T	0.08	.	4.7047	0.12844	0.1854:0.0:0.8146:0.0	.	211;210	P12318;P12318-2	FCG2A_HUMAN;.	V	210;211	ENSP00000356949:G210V;ENSP00000271450:G211V	ENSP00000271450:G211V	G	+	2	0	FCGR2A	159747260	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.114000	0.10757	0.498000	0.27948	0.549000	0.68633	GGC		0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		7	114	1	0	0.0293803	1	0.0293803	7	114				
RBM17	84991	broad.mit.edu	37	10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr10:6157238T>C	ENST00000446108.1	+	11	1710	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	356	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTACGGATATTTTTAGAATT	0.343																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(1066-1068)Ttt>Ctt		RNA binding motif protein 17							59.0	59.0	59.0					10																	6157238		2203	4300	6503	SO:0001583	missense	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157238T>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1066T>C	10.37:g.6157238T>C	ENSP00000388638:p.Phe356Leu					RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	p.F356L	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			11	1710	+			356			RRM.		Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.1066T>C	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549573	0.86127	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.74	4.74	0.60224	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.92880	3.355	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.88175	0.2867	9	0.72032	D	0.01	-14.8869	14.5653	0.68171	0.0:0.0:0.0:1.0	.	356	Q96I25	SPF45_HUMAN	L	356	.	ENSP00000369218:F356L	F	+	1	0	RBM17	6197244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.069000	0.76755	1.874000	0.54306	0.533000	0.62120	TTT		0.343	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		3	24	0	0	0	1	0	3	24				
MATN1	4146	broad.mit.edu	37	1	31189120	31189120	+	Silent	SNP	G	G	A	rs367627173		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:31189120G>A	ENST00000373765.4	-	5	878	c.843C>T	c.(841-843)gaC>gaT	p.D281D	MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	281	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGATCCGTCAATGAGGA	0.557																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(841-843)gaC>gaT		matrilin 1, cartilage matrix protein		G		0,4406		0,0,2203	77.0	67.0	70.0		843	0.3	1.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MATN1	NM_002379.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		281/497	31189120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31189120G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.843C>T	1.37:g.31189120G>A						MATN1_ENST00000477320.1_5'UTR	p.D281D	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	878	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	281			VWFA 2.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.843C>T	CCDS336.1																																																																																				0.557	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		4	45	0	0	0	1	0	4	45				
HMCN1	83872	broad.mit.edu	37	1	186106992	186106992	+	Silent	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:186106992C>T	ENST00000271588.4	+	89	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	HMCN1_ENST00000367492.2_Silent_p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4604	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)	p.R4604R(1)		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						GCTGTGGACGCGGCAACCAAA	0.463																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.R4604R(1)	breast(1)	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.(13810-13812)cgC>cgT		hemicentin 1							182.0	171.0	175.0					1																	186106992		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106992C>T	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.13812C>T	1.37:g.186106992C>T						HMCN1_ENST00000367492.2_Silent_p.R4604R	p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			89	14041	+			4604			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13812C>T	CCDS30956.1																																																																																				0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	95	0	0	0	1	0	5	95				
TBC1D2	55357	broad.mit.edu	37	9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:100970983T>G	ENST00000375064.1	-	9	2155	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.N706T|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	706	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATGGTGGGGTTCTGCCAGGA	0.602																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2116-2118)aAc>aCc		TBC1 domain family, member 2							72.0	71.0	71.0					9																	100970983		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100970983T>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2117A>C	9.37:g.100970983T>G	ENSP00000364205:p.Asn706Thr					TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	p.N706T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	2208	-		Myeloproliferative disorder(762;0.0255)	706			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.2117A>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.982093	0.74474	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.66	5.66	0.87406	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	H	0.96015	3.755	0.58432	D	0.999999	D;P	0.56746	0.977;0.948	P;P	0.51974	0.686;0.558	T	0.54029	-0.8354	10	0.87932	D	0	.	14.8687	0.70437	0.0:0.0:0.0:1.0	.	706;706	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	T	706;706;488;246	ENSP00000364205:N706T;ENSP00000364207:N706T;ENSP00000341567:N488T;ENSP00000364203:N246T	ENSP00000341567:N488T	N	-	2	0	TBC1D2	100010804	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	7.965000	0.87945	2.160000	0.67779	0.533000	0.62120	AAC		0.602	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	49	0	0	0	1	0	4	49				
DDX27	55661	broad.mit.edu	37	20	47850144	47850144	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:47850144C>T	ENST00000371764.4	+	11	1273	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	422	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATCCTGTCCGGATATTTGT	0.547																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1264-1266)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							129.0	124.0	126.0					20																	47850144		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47850144C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1264C>T	20.37:g.47850144C>T	ENSP00000360828:p.Arg422Trp					DDX27_ENST00000484427.1_3'UTR	p.R422W	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	1273	+			422			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1264C>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992389	0.74703	.	.	ENSG00000124228	ENST00000371764	T	0.45276	0.9	5.84	3.84	0.44239	DEAD-like helicase (2);	0.047550	0.85682	D	0.000000	T	0.64605	0.2613	M	0.80982	2.52	0.51233	D	0.999913	D	0.89917	1.0	D	0.74023	0.982	T	0.68864	-0.5296	10	0.87932	D	0	-12.4072	13.1218	0.59331	0.2914:0.7086:0.0:0.0	.	422	Q96GQ7	DDX27_HUMAN	W	422	ENSP00000360828:R422W	ENSP00000360828:R422W	R	+	1	2	DDX27	47283551	1.000000	0.71417	0.893000	0.35052	0.946000	0.59487	4.960000	0.63673	0.757000	0.33036	-0.310000	0.09108	CGG		0.547	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	174	0	0	0	1	0	8	174				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	32	0	0	0	1	0	4	32				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			5	34	0	0	0	1	0	5	34				
ZCCHC4	29063	broad.mit.edu	37	4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr4:25314511T>C	ENST00000302874.4	+	1	104	c.80T>C	c.(79-81)gTg>gCg	p.V27A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	27							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAATGGAGGTGGTGCTTCCT	0.672											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(79-81)gTg>gCg		zinc finger, CCHC domain containing 4							68.0	84.0	79.0					4																	25314511		2078	4209	6287	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314511T>C	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.80T>C	4.37:g.25314511T>C	ENSP00000303468:p.Val27Ala		OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778	ZCCHC4_ENST00000505451.1_3'UTR	p.V27A	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			1	104	+		Breast(46;0.0503)	27					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.80T>C	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092553	0.56075	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.30182	1.54	5.71	4.55	0.56014	.	0.232106	0.42682	D	0.000669	T	0.19886	0.0478	L	0.29908	0.895	0.37807	D	0.927918	B	0.29378	0.243	B	0.27380	0.079	T	0.14727	-1.0462	10	0.72032	D	0.01	-7.7492	5.4209	0.16400	0.0:0.0874:0.1779:0.7347	.	27	Q9H5U6	ZCHC4_HUMAN	A	27;3	ENSP00000303468:V27A	ENSP00000303468:V27A	V	+	2	0	ZCCHC4	24923609	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.539000	0.45718	2.176000	0.68965	0.533000	0.62120	GTG		0.672	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	100	0	0	0	1	0	7	100				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	28	0	0	0	1	0	4	28				
GATAD2A	54815	broad.mit.edu	37	19	19576172	19576172	+	Silent	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr19:19576172C>T	ENST00000360315.3	+	2	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000429563.2_5'Flank|GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000404158.1_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(16-18)tgC>tgT		GATA zinc finger domain containing 2A							111.0	106.0	108.0					19																	19576172		1568	3582	5150	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19576172C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.18C>T	19.37:g.19576172C>T						GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000360315.3_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000494516.1_3'UTR	p.C6C			Q86YP4	P66A_HUMAN			4	436	+			6					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.18C>T	CCDS12402.2																																																																																				0.473	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	49	0	0	0	1	0	4	49				
DHX8	1659	broad.mit.edu	37	17	41582116	41582116	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:41582116G>A	ENST00000262415.3	+	12	1723	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	551					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCCTCTTACGGAAAAAAGAC	0.478																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1651-1653)Gga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 8							128.0	129.0	129.0					17																	41582116		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582116G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1651G>A	17.37:g.41582116G>A	ENSP00000262415:p.Gly551Arg					DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1723	+		Breast(137;0.00908)	551						Missense_Mutation	SNP	ENST00000262415.3	37	c.1651G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836276	0.91117	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.08193	3.12;3.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.909	T	0.05451	-1.0884	10	0.66056	D	0.02	.	18.0709	0.89405	0.0:0.0:1.0:0.0	.	551;551	F5H658;Q14562	.;DHX8_HUMAN	R	551	ENSP00000437886:G551R;ENSP00000262415:G551R	ENSP00000262415:G551R	G	+	1	0	DHX8	38937642	1.000000	0.71417	0.781000	0.31783	0.944000	0.59088	9.752000	0.98900	2.526000	0.85167	0.555000	0.69702	GGA		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			9	118	0	0	0	1	0	9	118				
RSPO1	284654	broad.mit.edu	37	1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:38082185G>A	ENST00000401069.1	-	4	969	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_ENST00000356545.2_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTGCGGGCGTCGAAGTA	0.612																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(256-258)gCc>gTc		R-spondin 1							51.0	54.0	53.0					1																	38082185		2007	4167	6174	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082185G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.257C>T	1.37:g.38082185G>A	ENSP00000383847:p.Ala86Val					RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V	p.A86V	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1044	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	86					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.257C>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048349	0.55110	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.79	5.79	0.91817	Growth factor, receptor (1);	0.231111	0.46442	D	0.000296	T	0.53481	0.1799	N	0.17474	0.49	0.34788	D	0.735442	B;B;B	0.29988	0.264;0.019;0.011	B;B;B	0.24701	0.055;0.011;0.005	T	0.58081	-0.7699	10	0.02654	T	1	.	6.0986	0.20035	0.1108:0.0:0.7055:0.1838	.	86;59;86	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	V	59;86;86;86;86;86	ENSP00000362150:A59V;ENSP00000383848:A86V;ENSP00000348944:A86V;ENSP00000383849:A86V;ENSP00000383847:A86V;ENSP00000383846:A86V	ENSP00000348944:A86V	A	-	2	0	RSPO1	37854772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.009000	0.63998	2.753000	0.94483	0.555000	0.69702	GCC		0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		5	68	0	0	0	1	0	5	68				
GTSE1	51512	broad.mit.edu	37	22	46724668	46724668	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:46724668G>A	ENST00000454366.1	+	10	2020	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	584					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTCCTTCCCGTGTGCCTCAG	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1807-1809)cGt>cAt		G-2 and S-phase expressed 1							109.0	110.0	110.0					22																	46724668		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46724668G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1808G>A	22.37:g.46724668G>A	ENSP00000415430:p.Arg603His						p.R603H	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	10	2020	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	584					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1808G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908538	0.33721	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06528	3.29	4.41	-1.34	0.09143	.	1.691540	0.03064	N	0.156245	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.688;0.688	B;B	0.34722	0.188;0.188	T	0.20338	-1.0278	10	0.51188	T	0.08	1.0979	0.697	0.00900	0.1577:0.3315:0.1988:0.312	.	584;563	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	603;563	ENSP00000415430:R603H	ENSP00000354634:R563H	R	+	2	0	GTSE1	45103332	0.000000	0.05858	0.022000	0.16811	0.124000	0.20399	-0.427000	0.06999	-0.040000	0.13580	-0.825000	0.03093	CGT		0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	111	0	0	0	1	0	4	111				
EPO	2056	broad.mit.edu	37	7	100320666	100320666	+	Silent	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:100320666T>G	ENST00000252723.2	+	5	673	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	164					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCTGACACTTTCCGCAAAC	0.572																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(490-492)acT>acG		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						131.0	133.0	132.0					7																	100320666		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320666T>G	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.492T>G	7.37:g.100320666T>G							p.T164T	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	673	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		164					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.492T>G	CCDS5705.1																																																																																				0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		7	149	0	0	0	1	0	7	149				
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T	rs532637415	byFrequency	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		ATGCCACGGCCGAGGAGGAGG	0.522																																						ENST00000564451.1																			0																																																			0							g.chr16:90162555C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162555C>T						TUBB8P7_ENST00000567960.1_RNA								0	1908	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	95	0	0	0	1	0	4	95				
INTS4L1	285905	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T	rs201003787	byFrequency	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:64639752A>T	ENST00000587624.1	+	0	635							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATTTCCTAGTTGACATGT	0.443																																						ENST00000587624.1																			0																																																			0							g.chr7:64639752A>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64639752A>T														0	635	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.443	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		3	5	0	0	0	1	0	3	5				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	38	0	0	0	1	0	7	38				
MAPKAP1	79109	broad.mit.edu	37	9	128268595	128268595	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:128268595C>G	ENST00000373498.1	-	7	1128	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	354					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTACTGTTCTCGCGGACCAGG	0.577																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1060-1062)Gag>Cag		mitogen-activated protein kinase associated protein 1							103.0	86.0	91.0					9																	128268595		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128268595C>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1060G>C	9.37:g.128268595C>G	ENSP00000362597:p.Glu354Gln					MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q	p.E354Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			8	1392	-			354					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1060G>C	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555629	0.65425	.	.	ENSG00000119487	ENST00000373511;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063	.	.	.	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.38175	1.15	0.80722	D	1	B;B	0.32693	0.38;0.151	B;B	0.32805	0.13;0.153	T	0.32295	-0.9912	9	0.12766	T	0.61	-9.2912	15.5195	0.75854	0.0:0.9328:0.0:0.0672	.	354;354	Q9BPZ7-3;Q9BPZ7	.;SIN1_HUMAN	Q	354;162;354;354;162	.	ENSP00000265960:E354Q	E	-	1	0	MAPKAP1	127308416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.803000	0.85983	2.818000	0.97014	0.591000	0.81541	GAG		0.577	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			3	53	0	0	0	1	0	3	53				
HYAL1	3373	broad.mit.edu	37	3	50340316	50340316	+	Silent	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	24					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGCAAGGGGCCCCTAAAGC	0.612																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(70-72)ggC>ggA		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						54.0	54.0	54.0					3																	50340316		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340316G>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.72C>A	3.37:g.50340316G>T						HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron	p.G24G			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	687	-			24					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.72C>A	CCDS2816.1																																																																																				0.612	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			4	53	1	0	0.000602214	1	0.000620463	4	53				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	44	1	0	0.000602214	1	0.000620463	3	44				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	32	0	0	0	1	0	3	32				
PCDHB15	56121	broad.mit.edu	37	5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A	rs201928276		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr5:140626461G>A	ENST00000231173.3	+	1	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCATAACCGTGCTGGTGTC	0.592																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1315-1317)Gtg>Atg									122.0	114.0	117.0					5																	140626461		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626461G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1315G>A	5.37:g.140626461G>A	ENSP00000231173:p.Val439Met						p.V439M	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1315	+			439			Cadherin 4.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1315G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612885	0.14066	.	.	ENSG00000113248	ENST00000231173	T	0.72725	-0.68	4.52	1.47	0.22746	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83912	0.5357	H	0.99182	4.46	0.09310	N	1	P	0.48350	0.909	P	0.50192	0.634	T	0.75300	-0.3366	9	0.66056	D	0.02	.	3.7034	0.08391	0.0863:0.3182:0.3874:0.208	.	439	Q9Y5E8	PCDBF_HUMAN	M	439	ENSP00000231173:V439M	ENSP00000231173:V439M	V	+	1	0	PCDHB15	140606645	0.000000	0.05858	0.023000	0.16930	0.029000	0.11900	-0.382000	0.07408	0.445000	0.26639	0.485000	0.47835	GTG		0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		7	133	0	0	0	1	0	7	133				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	32	0	0	0	1	0	3	32				
RYR2	6262	broad.mit.edu	37	1	237991726	237991726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:237991726delA	ENST00000366574.2	+	102	14953	c.14636delA	c.(14635-14637)caafs	p.Q4879fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4879					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACAGGAACAAGTCAAAGAA	0.363																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14635-14637)cafs		ryanodine receptor 2 (cardiac)							99.0	100.0	100.0					1																	237991726		1868	4103	5971	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237991726delA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14636delA	1.37:g.237991726delA	ENSP00000355533:p.Gln4879fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	p.Q4879fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		102	14953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4879					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14636delA	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		2	4						2	4	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383																																						ENST00000521433.1																			0																																																			0							g.chr8:89498122delA																													8.37:g.89498122delA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	DEL	ENST00000521433.1	37																																																																																						0.383	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			2	4						2	4	---	---	---	---
