#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAJB8	165721	broad.mit.edu	37	3	128181921	128181921	+	Silent	SNP	C	C	G			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	ENST00000469083.1	-	2	2725	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.L56L			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	56	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(166-168)ctG>ctC		DnaJ (Hsp40) homolog, subfamily B, member 8							159.0	156.0	157.0					3																	128181921		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181921C>G		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.168G>C	3.37:g.128181921C>G			Somatic				DNAJB8_ENST00000319153.3_Silent_p.L56L	p.L56L			WXS	Illumina GAIIx	Phase_I	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2725	-			56			J.		B3KWV7	Silent	SNP	ENST00000469083.1	37	c.168G>C	CCDS3048.1																																																																																				0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		23	218	23	218	---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	172	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(514-516)Tac>Gac		protein phosphatase 1, regulatory subunit 3B							240.0	204.0	216.0					8																	8998648		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998648A>C	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.514T>G	8.37:g.8998648A>C	ENSP00000308318:p.Tyr172Asp		Somatic				PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	WXS	Illumina GAIIx	Phase_I	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	664	-			172			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.514T>G	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572553	0.45798	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.63744	-0.06;-0.06	5.77	4.58	0.56647	Putative phosphatase regulatory subunit (2);	0.151614	0.64402	D	0.000011	T	0.66799	0.2826	M	0.84683	2.71	0.43947	D	0.996611	B	0.25955	0.138	B	0.29440	0.102	T	0.66019	-0.6027	10	0.52906	T	0.07	-27.0283	12.1632	0.54115	0.8568:0.1432:0.0:0.0	.	172	Q86XI6	PPR3B_HUMAN	D	172	ENSP00000308318:Y172D;ENSP00000428642:Y172D	ENSP00000308318:Y172D	Y	-	1	0	PPP1R3B	9036058	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.540000	0.53611	0.975000	0.38392	0.459000	0.35465	TAC		0.493	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		20	156	20	156	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A	rs201325140		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	ENST00000330342.3	+	17	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	723					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2167-2169)tGt>tAt		ATPase, H+ transporting, lysosomal V0 subunit a2							106.0	107.0	107.0					12																	124236942		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124236942G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2168G>A	12.37:g.124236942G>A	ENSP00000332247:p.Cys723Tyr		Somatic					p.C723Y	NM_012463.3	NP_036595.2	WXS	Illumina GAIIx	Phase_I	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	17	2416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		723					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2168G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443222	0.04604	.	.	ENSG00000185344	ENST00000330342;ENST00000534943	D;D	0.85702	-2.02;-2.02	5.76	3.61	0.41365	.	0.803186	0.12001	N	0.508850	T	0.78071	0.4226	L	0.34521	1.04	0.09310	N	1	B	0.20459	0.045	B	0.14578	0.011	T	0.69529	-0.5121	10	0.66056	D	0.02	-9.1968	10.248	0.43352	0.2275:0.0:0.7725:0.0	.	723	Q9Y487	VPP2_HUMAN	Y	723;3	ENSP00000332247:C723Y;ENSP00000443726:C3Y	ENSP00000332247:C723Y	C	+	2	0	ATP6V0A2	122802895	0.001000	0.12720	0.452000	0.26994	0.482000	0.33219	0.211000	0.17474	1.431000	0.47355	0.655000	0.94253	TGT		0.343	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		3	87	3	87	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	ENST00000561311.1	+	22	2892	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	TLN2_ENST00000306829.6_Missense_Mutation_p.D888N			Q9Y4G6	TLN2_HUMAN	talin 2	888	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2662-2664)Gac>Aac		talin 2							46.0	48.0	47.0					15																	63008557		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63008557G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2662G>A	15.37:g.63008557G>A	ENSP00000453508:p.Asp888Asn		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.D888N	p.D888N			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			22	2892	+			888			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2662G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267905	0.80469	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.65	5.65	0.86999	.	0.042437	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38838	1.175	0.80722	D	1	P	0.38020	0.615	B	0.38264	0.269	T	0.55263	-0.8168	10	0.21014	T	0.42	-18.7917	19.6904	0.95998	0.0:0.0:1.0:0.0	.	888	Q9Y4G6	TLN2_HUMAN	N	888	ENSP00000303476:D888N	ENSP00000303476:D888N	D	+	1	0	TLN2	60795849	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.775000	0.98995	2.822000	0.97130	0.650000	0.86243	GAC		0.483	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	77	3	77	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37369385	37369385	+	Splice_Site	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	ENST00000333461.5	-	10	1363	c.994G>T	c.(994-996)Ggc>Tgc	p.G332C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(994-996)Ggc>Tgc		SH3 and cysteine rich domain 2							48.0	52.0	50.0					17																	37369385		2203	4300	6503	SO:0001630	splice_region_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369385C>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.994-1G>T	17.37:g.37369385C>A			Somatic					p.G332C	NM_198993.3	NP_945344.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			10	1363	-			332			SH3.		Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	c.994G>T	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	18.79	3.699009	0.68501	.	.	ENSG00000141750	ENST00000333461	T	0.64803	-0.12	5.15	5.15	0.70609	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.82195	0.4984	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85691	0.1307	10	0.87932	D	0	-1.0322	17.3884	0.87423	0.0:1.0:0.0:0.0	.	332	Q6ZMT1	STAC2_HUMAN	C	332	ENSP00000327509:G332C	ENSP00000327509:G332C	G	-	1	0	STAC2	34622911	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.776000	0.75023	2.405000	0.81733	0.462000	0.41574	GGC		0.612	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993	Missense_Mutation	5	167	5	167	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:62041134G>A	ENST00000435607.1	-	10	1580	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	502					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTGCCATGGGCTGGGTCC	0.637																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1504-1506)Cat>Tat		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						31.0	32.0	32.0					17																	62041134		2088	4215	6303	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62041134G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1504C>T	17.37:g.62041134G>A	ENSP00000396320:p.His502Tyr		Somatic				SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	p.H502Y	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			10	1580	-			502					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1504C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438171	0.25900	.	.	ENSG00000007314	ENST00000435607	D	0.96104	-3.91	4.51	3.5	0.40072	.	0.888008	0.09836	N	0.749552	D	0.89497	0.6732	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.21360	0.034	T	0.82108	-0.0620	10	0.72032	D	0.01	.	10.7292	0.46087	0.0:0.0:0.6576:0.3424	.	502	P35499	SCN4A_HUMAN	Y	502	ENSP00000396320:H502Y	ENSP00000396320:H502Y	H	-	1	0	SCN4A	59394866	0.012000	0.17670	0.142000	0.22268	0.962000	0.63368	1.576000	0.36504	1.066000	0.40716	0.655000	0.94253	CAT		0.637	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	22	7	22	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1222-1224)Cgt>Tgt		CDK5 regulatory subunit associated protein 1							132.0	131.0	131.0					20																	31961946		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31961946G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1222C>T	20.37:g.31961946G>A	ENSP00000350558:p.Arg408Cys		Somatic				CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C	p.R408C			WXS	Illumina GAIIx	Phase_I	Q96SZ6	CK5P1_HUMAN			10	1375	-			408					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272403	0.80580	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.97	4.97	0.65823	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.293913	0.39985	N	0.001208	T	0.53899	0.1825	M	0.91510	3.215	0.53688	D	0.999977	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;0.998	P;D;D;D;P;P	0.65443	0.731;0.935;0.935;0.935;0.894;0.827	T	0.61197	-0.7111	10	0.87932	D	0	-10.6536	9.2882	0.37771	0.0:0.1559:0.6825:0.1616	.	317;408;394;394;394;304	Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;CK5P1_HUMAN;.;.;.;.	C	394;408;317;304;394	ENSP00000217372:R394C;ENSP00000350558:R408C;ENSP00000341840:R317C;ENSP00000408133:R304C;ENSP00000439034:R394C	ENSP00000341840:R317C	R	-	1	0	CDK5RAP1	31425607	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	2.202000	0.42743	2.820000	0.97059	0.655000	0.94253	CGT		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		61	372	61	372	---	---	---	---
GUSBP11	91316	broad.mit.edu	37	22	23981105	23981105	+	RNA	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:23981105A>C	ENST00000455485.1	-	0	3384				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GAACAGAATGACCGACGGGGT	0.562																																						ENST00000455485.1																			0																																																			91316							g.chr22:23981105A>C			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23981105A>C			Somatic				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA				WXS	Illumina GAIIx	Phase_I					0	3384	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.562	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			3	40	3	40	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	582	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTGGTACCACAGGGGGA	0.637																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1744-1746)tgG>tgA		Sad1 and UNC84 domain containing 2							76.0	74.0	75.0					22																	39134911		2202	4300	6502	SO:0001587	stop_gained	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39134911C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1746G>A	22.37:g.39134911C>T	ENSP00000385740:p.Trp582*		Somatic				SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	p.W582*	NM_001199580.1	NP_001186509.1	WXS	Illumina GAIIx	Phase_I	Q9UH99	SUN2_HUMAN			16	2104	-			582			SUN.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Nonsense_Mutation	SNP	ENST00000405510.1	37	c.1746G>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	41	8.857457	0.98980	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000455125	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2867	19.3569	0.94418	0.0:1.0:0.0:0.0	.	.	.	.	X	582;582;603;582;571;55	.	ENSP00000216064:W582X	W	-	3	0	SUN2	37464857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.796000	0.85898	2.582000	0.87167	0.462000	0.41574	TGG		0.637	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		10	56	10	56	---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	ENST00000327678.5	+	10	762	c.660C>A	c.(658-660)agC>agA	p.S220R	SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RNU6-513P_ENST00000516104.1_RNA|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(658-660)agC>agA		serine hydrolase-like 2							140.0	108.0	119.0					22																	42967138		2203	4300	6503	SO:0001583	missense	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42967138C>A		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.660C>A	22.37:g.42967138C>A	ENSP00000331376:p.Ser220Arg		Somatic				SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA	p.S220R	NM_014509.3	NP_055324.2	WXS	Illumina GAIIx	Phase_I	Q9H4I8	SEHL2_HUMAN			10	762	+			220					Q5JZ95|Q9UH21	Missense_Mutation	SNP	ENST00000327678.5	37	c.660C>A	CCDS14037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.558715|1.558715	0.27827|0.27827	.|.	.|.	ENSG00000183569|ENSG00000183569	ENST00000340239|ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	T|T;T;T	0.20598|0.15256	2.06|2.44;2.44;2.44	2.74|2.74	1.71|1.71	0.24356|0.24356	.|.	.|0.352686	.|0.28889	.|N	.|0.013801	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.60575	.|0.988;0.894;0.973	.|P;P;P	.|0.59357	.|0.856;0.755;0.697	T|T	0.05716|0.05716	-1.0868|-1.0868	7|10	0.05351|0.37606	T|T	0.99|0.19	.|.	8.6298|8.6298	0.33913|0.33913	0.0:0.8689:0.0:0.1311|0.0:0.8689:0.0:0.1311	.|.	.|237;156;220	.|B4DHQ4;Q9H4I8-2;Q9H4I8	.|.;.;SEHL2_HUMAN	E|R	182|220;40;40;156	ENSP00000342425:A182E|ENSP00000331376:S220R;ENSP00000385691:S40R;ENSP00000336578:S156R	ENSP00000342425:A182E|ENSP00000331376:S220R	A|S	+|+	2|3	0|2	SERHL2|SERHL2	41297082|41297082	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.157000|-0.157000	0.10085|0.10085	0.231000|0.231000	0.21079|0.21079	-1.626000|-1.626000	0.00786|0.00786	GCA|AGC		0.537	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	102	3	102	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	ENST00000378024.4	-	5	2582	c.2308delG	c.(2308-2310)gatfs	p.D770fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	770					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2308-2310)gatfs		AHNAK nucleoprotein							153.0	158.0	156.0					11																	62299581		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299581delC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2308delG	11.37:g.62299581delC	ENSP00000367263:p.Asp770fs		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D770fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2582	-		Melanoma(852;0.155)	770					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.2308delG	CCDS31584.1																																																																																				0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	333	46	333	---	---	---	---
