#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
KLK13	26085	broad.mit.edu	37	19	51563781	51563781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:51563781G>A	ENST00000595793.1	-	2	190	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGGGCAGCCTGCCAGGGCTGA	0.597																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(148-150)Cag>Tag		kallikrein-related peptidase 13							84.0	87.0	86.0					19																	51563781		2203	4300	6503	SO:0001587	stop_gained	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563781G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.148C>T	19.37:g.51563781G>A	ENSP00000470555:p.Gln50*					KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*	p.Q50*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	190	-		all_neural(266;0.026)	50			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Nonsense_Mutation	SNP	ENST00000595793.1	37	c.148C>T	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.201413|5.201413	0.94997|0.94997	.|.	.|.	ENSG00000167759|ENSG00000167759	ENST00000376799|ENST00000156476	.|.	.|.	.|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	.|0.000000	.|0.44902	.|D	.|0.000402	T|.	0.73016|.	0.3533|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77536|.	-0.2551|.	5|.	0.87932|0.87932	D|D	0|0	.|.	13.6889|13.6889	0.62533|0.62533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	51|50	.|.	ENSP00000365995:A51V|ENSP00000156476:Q50X	A|Q	-|-	2|1	0|0	KLK13|KLK13	56255593|56255593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.063000|7.063000	0.76714|0.76714	2.166000|2.166000	0.68216|0.68216	0.609000|0.609000	0.83330|0.83330	GCA|CAG		0.597	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		4	57	0	0	0	1	0	4	57				
RP11-252A24.2	0	broad.mit.edu	37	16	74372357	74372357	+	RNA	SNP	C	C	T	rs112549981		TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr16:74372357C>T	ENST00000429810.2	-	0	1839																											ATCTCAAACTCTGTGAAAGAG	0.368																																						ENST00000429810.2																			0																																																			0							g.chr16:74372357C>T																													16.37:g.74372357C>T														0	1839	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.368	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	29	0	0	0	1	0	3	29				
IGHD	3495	broad.mit.edu	37	14	106311819	106311819	+	RNA	SNP	T	T	C			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr14:106311819T>C	ENST00000390556.2	-	0	191							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTGCTTGTCATGTAGTAGCTG	0.577																																						ENST00000390556.2																			0																				140.0	140.0	140.0					14																	106311819		2191	4274	6465			3495							g.chr14:106311819T>C	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311819T>C														0	191	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.577	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		13	40	0	0	0	1	0	13	40				
SLCO1C1	53919	broad.mit.edu	37	12	20868177	20868177	+	Silent	SNP	C	C	T			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:20868177C>T	ENST00000266509.2	+	6	1002	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.L94L|SLCO1C1_ENST00000381552.1_Silent_p.L212L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	212					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CATTGCCTACCTGGATGATTT	0.428																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(634-636)Ctg>Ttg		solute carrier organic anion transporter family, member 1C1							174.0	158.0	163.0					12																	20868177		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20868177C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.634C>T	12.37:g.20868177C>T						SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000266509.2_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.L94L	p.L212L			Q9NYB5	SO1C1_HUMAN			6	1002	+	Esophageal squamous(101;0.149)		212					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.634C>T	CCDS8683.1																																																																																				0.428	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	76	0	0	0	1	0	4	76				
PXDN	7837	broad.mit.edu	37	2	1652159	1652159	+	Silent	SNP	G	G	A			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr2:1652159G>A	ENST00000252804.4	-	17	3443	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1131					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGCTGCGAGGGCACACGCA	0.627																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3391-3393)ccC>ccT		peroxidasin homolog (Drosophila)							42.0	51.0	48.0					2																	1652159		2060	4214	6274	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652159G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3393C>T	2.37:g.1652159G>A							p.P1131P	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3443	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1131					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3393C>T	CCDS46221.1																																																																																				0.627	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		14	22	0	0	0	1	0	14	22				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	6	44	0	0	0	1	0	6	44				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		6	46	0	0	0	1	0	6	46				
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs202011711	byFrequency	TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr16:22545865G>C	ENST00000517539.1	+	8	1636	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000424340.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	521	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCTCACTGCCCTTCCACC	0.567																																						ENST00000424340.1																			0											c.(1561-1563)Gcc>Ccc		nuclear pore complex interacting protein family, member B5							15.0	10.0	11.0					16																	22545865		690	1587	2277	SO:0001583	missense	100132247							g.chr16:22545865G>C		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1561G>C	16.37:g.22545865G>C	ENSP00000430633:p.Ala521Pro					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	p.A521P	NM_001135865.1	NP_001129337.1					7	1840	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1561G>C	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839534	0.02692	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18338	2.32;2.22;2.22;2.32	.	.	.	.	.	.	.	.	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.28618	-1.0038	7	0.08381	T	0.77	.	.	.	.	.	521;521	F5GWX0;A8MRT5	.;K220L_HUMAN	P	521;521;521;399;521;521;502	ENSP00000445388:A521P;ENSP00000440703:A521P;ENSP00000430633:A521P;ENSP00000431553:A521P	ENSP00000441680:A521P	A	+	1	0	RP11-368J21.2	22453366	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-2.321000	0.00641	-2.362000	0.00238	GCC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		11	240	0	0	0	1	0	11	240				
UNC79	57578	broad.mit.edu	37	14	94067098	94067098	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr14:94067098G>A	ENST00000393151.2	+	25	3556	c.3556G>A	c.(3556-3558)Gaa>Aaa	p.E1186K	UNC79_ENST00000256339.4_Missense_Mutation_p.E1009K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000553484.1_Missense_Mutation_p.E1186K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1186					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGTAACAAGGAATTTCCTTT	0.413																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3556-3558)Gaa>Aaa		unc-79 homolog (C. elegans)							90.0	87.0	88.0					14																	94067098		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94067098G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3556G>A	14.37:g.94067098G>A	ENSP00000376858:p.Glu1186Lys					UNC79_ENST00000393151.2_Missense_Mutation_p.E1186K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1009K	p.E1186K			Q9P2D8	UNC79_HUMAN			25	3710	+			1186					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3556G>A		.	.	.	.	.	.	.	.	.	.	G	27.7	4.855984	0.91355	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19532	2.15;2.15;2.14;2.15	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.29908	0.895	0.58432	D	0.999991	D	0.61697	0.99	D	0.72982	0.979	T	0.06917	-1.0800	10	0.72032	D	0.01	-19.3861	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1186	C9JQL1	.	K	1009;1186;1186;1186;1186	ENSP00000256339:E1009K;ENSP00000450868:E1186K;ENSP00000451360:E1186K;ENSP00000376858:E1186K	ENSP00000256339:E1009K	E	+	1	0	KIAA1409	93136851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.413	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	56	0	0	0	1	0	4	56				
ANO5	203859	broad.mit.edu	37	11	22296294	22296294	+	Splice_Site	SNP	G	G	C			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr11:22296294G>C	ENST00000324559.8	+	20	2731		c.e20+1		ANO5_ENST00000532043.1_Splice_Site	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACTTGCAGGTGATTTGTTT	0.343																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e20+1		anoctamin 5							76.0	64.0	68.0					11																	22296294		2202	4299	6501	SO:0001630	splice_region_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296294G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2414+1G>C	11.37:g.22296294G>C						ANO5_ENST00000532043.1_Splice_Site		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			20	2731	+									Splice_Site	SNP	ENST00000324559.8	37		CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400348	0.62177	.	.	ENSG00000171714	ENST00000324559	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8516	0.92232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO5	22252870	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	8.148000	0.89630	2.614000	0.88457	0.555000	0.69702	.		0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	Intron	3	43	0	0	0	1	0	3	43				
ARHGEF26	26084	broad.mit.edu	37	3	153839931	153839931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr3:153839931delT	ENST00000356448.4	+	2	434	c.150delT	c.(148-150)gatfs	p.D50fs	ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	50					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAATTACGGATTTCCCGGTGG	0.662																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(148-150)gafs		Rho guanine nucleotide exchange factor (GEF) 26							16.0	18.0	17.0					3																	153839931		1903	4126	6029	SO:0001589	frameshift_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153839931delT	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.150delT	3.37:g.153839931delT	ENSP00000348828:p.Asp50fs					ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs	p.D50fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	434	+			50					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Frame_Shift_Del	DEL	ENST00000356448.4	37	c.150delT	CCDS46938.1																																																																																				0.662	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		2	4						2	4	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937738	49937740	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:49937738_49937740delGGG	ENST00000257981.6	+	6	1124_1126	c.864_866delGGG	c.(862-867)tcgggc>tcc	p.G289del		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	289					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTCCAAGTCGGGCCAGGTGGTG	0.596																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(862-867)tcc>tc		potassium voltage-gated channel, subfamily H (eag-related), member 3																																				SO:0001651	inframe_deletion	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937738_49937740delGGG	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.864_866delGGG	12.37:g.49937738_49937740delGGG	ENSP00000257981:p.Gly289del						p.SG288del	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			6	1124_1126	+			288					Q9UQ06	In_Frame_Del	DEL	ENST00000257981.6	37	c.864_866delGGG	CCDS8786.1																																																																																				0.596	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		11	56						11	56	---	---	---	---
GOLGA6D	653643	broad.mit.edu	37	15	75585440	75585442	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr15:75585440_75585442delGAG	ENST00000434739.3	+	14	1569_1571	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	513						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						TCTGGACAGTGAGGAGGAGGAGG	0.631																																						ENST00000434739.3																			0				kidney(1)|lung(1)	2						c.(1528-1530)del		golgin A6 family, member D				1,359		0,1,179						-3.1	0.0			1	6,966		1,4,481	no	coding	GOLGA6D	NM_001145224.1		1,5,660	A1A1,A1R,RR		0.6173,0.2778,0.5255				7,1325				SO:0001651	inframe_deletion	653643							g.chr15:75585440_75585442delGAG		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1528_1530delGAG	15.37:g.75585449_75585451delGAG	ENSP00000391085:p.Glu513del						p.E513del	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN			14	1569_1571	+			513						In_Frame_Del	DEL	ENST00000434739.3	37	c.1528_1530delGAG	CCDS45308.1																																																																																				0.631	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		2	4						2	4	---	---	---	---
PYY2	23615	broad.mit.edu	37	17	26554700	26554700	+	RNA	DEL	C	C	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr17:26554700delC	ENST00000441253.2	+	0	685					NR_003064.2		Q9NRI6	PYY2_HUMAN	peptide YY, 2 (pseudogene)							extracellular region (GO:0005576)											GCGAGGACCGCCTCGGCAGGT	0.647																																						ENST00000441253.2																			0																																																			23615							g.chr17:26554700delC	AF222904		17q11	2012-04-20	2012-04-20		ENSG00000237575	ENSG00000237575			9749	pseudogene	pseudogene	"""seminalplasmin"""	606637	"""peptide YY, 2 (seminalplasmin)"""			7831336	Standard	NR_003064		Approved		uc002haa.3	Q9NRI6	OTTHUMG00000132450		17.37:g.26554700delC								NR_003064.2						0	685	+									RNA	DEL	ENST00000441253.2	37																																																																																						0.647	PYY2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255606.2			2	4						2	4	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48639327	48639327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:48639327delG	ENST00000263274.7	-	15	1806	c.1387delC	c.(1387-1389)ctcfs	p.L463fs	LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	463					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCTGGGAGAGGGCAGCCAGC	0.692								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(1387-1389)tcfs	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						12.0	15.0	14.0					19																	48639327		2182	4271	6453	SO:0001589	frameshift_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48639327delG		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1387delC	19.37:g.48639327delG	ENSP00000263274:p.Leu463fs					LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs	p.L463fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	15	1806	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	463					B2RAI8|Q2TB12|Q32P23	Frame_Shift_Del	DEL	ENST00000263274.7	37	c.1387delC	CCDS12711.1																																																																																				0.692	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		2	4						2	4	---	---	---	---
