#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
SLC27A6	28965	broad.mit.edu	37	5	128301920	128301920	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr5:128301920C>A	ENST00000262462.4	+	1	1100	c.90C>A	c.(88-90)gaC>gaA	p.D30E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	30					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGGATGACTTCTGGTTCG	0.478																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(88-90)gaC>gaA		solute carrier family 27 (fatty acid transporter), member 6							107.0	105.0	106.0					5																	128301920		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301920C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.90C>A	5.37:g.128301920C>A	ENSP00000262462:p.Asp30Glu					SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E	p.D30E			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1100	+		all_cancers(142;0.0483)|Prostate(80;0.055)	30					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.90C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080369	0.36662	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.46451	0.87;0.87;0.87	4.44	0.473	0.16763	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.79926	2.475	0.50467	D	0.999879	D	0.76494	0.999	D	0.75484	0.986	T	0.61633	-0.7023	10	0.56958	D	0.05	-10.9229	10.7415	0.46156	0.0:0.6626:0.0:0.3374	.	30	Q9Y2P4	S27A6_HUMAN	E	30	ENSP00000262462:D30E;ENSP00000378684:D30E;ENSP00000421024:D30E	ENSP00000262462:D30E	D	+	3	2	SLC27A6	128329819	0.002000	0.14202	0.249000	0.24280	0.058000	0.15608	-0.092000	0.11129	0.062000	0.16340	-0.224000	0.12420	GAC		0.478	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		7	63	1	0	2.0095e-06	1	2.21045e-06	7	63				
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(280-282)ccC>ccT		keratin associated protein 10-1							41.0	47.0	45.0					21																	45959752		2190	4281	6471	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959752G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.282C>T	21.37:g.45959752G>A						TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.P94P	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	326	-			94			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.282C>T	CCDS42954.1																																																																																				0.662	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			4	95	0	0	0	1	0	4	95				
PPEF2	5470	broad.mit.edu	37	4	76787341	76787341	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr4:76787341C>T	ENST00000286719.7	-	15	2277		c.e15+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACACCGTTACCTCGCGACTC	0.473																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.e15+1		protein phosphatase, EF-hand calcium binding domain 2							270.0	223.0	239.0					4																	76787341		2203	4300	6503	SO:0001630	splice_region_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787341C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1920+1G>A	4.37:g.76787341C>T								NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2277	-								O14831	Splice_Site	SNP	ENST00000286719.7	37		CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233695	0.39498	.	.	ENSG00000156194	ENST00000286719	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1297	0.72514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77006365	1.000000	0.71417	0.974000	0.42286	0.213000	0.24496	6.527000	0.73803	2.421000	0.82119	0.491000	0.48974	.		0.473	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	Intron	36	61	0	0	0	1	0	36	61				
MSR1	4481	broad.mit.edu	37	8	15977990	15977990	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr8:15977990C>T	ENST00000262101.5	-	9	1280	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	387	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCTACAGACGACCTGTCCA	0.542																																						ENST00000262101.5																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1159-1161)Gtc>Atc		macrophage scavenger receptor 1							126.0	122.0	123.0					8																	15977990		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15977990C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1159G>A	8.37:g.15977990C>T	ENSP00000262101:p.Val387Ile					MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I|MSR1_ENST00000355282.2_Intron	p.V387I			P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1280	-			387			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1159G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367452	0.11352	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.39229	1.09;1.09	4.84	-6.85	0.01681	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	1.358560	0.05248	N	0.513391	T	0.41766	0.1173	L	0.46670	1.46	0.80722	D	1	B;B	0.22909	0.077;0.032	B;B	0.14578	0.011;0.011	T	0.44982	-0.9292	10	0.45353	T	0.12	.	24.1307	0.99988	0.0:0.8754:0.0:0.1246	.	405;387	B4DDJ5;P21757	.;MSRE_HUMAN	I	387;405	ENSP00000262101:V387I;ENSP00000405453:V405I	ENSP00000262101:V387I	V	-	1	0	MSR1	16022361	0.142000	0.22610	0.015000	0.15790	0.032000	0.12392	0.560000	0.23500	-1.873000	0.01135	-1.934000	0.00508	GTC		0.542	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	103	0	0	0	1	0	5	103				
BARHL2	343472	broad.mit.edu	37	1	91180275	91180275	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:91180275G>A	ENST00000370445.4	-	2	705	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	222					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGACTCTCACGGCTACTCGTA	0.542																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(664-666)Cgt>Tgt		BarH-like homeobox 2							140.0	140.0	140.0					1																	91180275		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91180275G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.664C>T	1.37:g.91180275G>A	ENSP00000359474:p.Arg222Cys						p.R222C	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	705	-		all_lung(203;0.0263)|Lung SC(238;0.128)	222					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.664C>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932069	0.52866	.	.	ENSG00000143032	ENST00000370445	D	0.91295	-2.82	5.1	3.08	0.35506	Homeodomain-related (1);	0.056398	0.64402	D	0.000002	D	0.89227	0.6655	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.90003	0.4116	10	0.59425	D	0.04	.	12.4014	0.55414	0.0:0.0:0.6953:0.3047	.	222	Q9NY43	BARH2_HUMAN	C	222	ENSP00000359474:R222C	ENSP00000359474:R222C	R	-	1	0	BARHL2	90952863	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.594000	0.61041	1.112000	0.41740	0.655000	0.94253	CGT		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			19	121	0	0	0	1	0	19	121				
TYW1	55253	broad.mit.edu	37	7	66474575	66474575	+	Silent	SNP	C	C	T	rs376806090		TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(277-279)ttC>ttT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							134.0	119.0	124.0					7																	66474575		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474575C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T							p.F93F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			4	443	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	93			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.279C>T	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	49	0	0	0	1	0	4	49				
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C	rs201876441	byFrequency	TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195.0	152.0	165.0					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	88	0	0	0	1	0	7	88				
ADCY6	112	broad.mit.edu	37	12	49169216	49169216	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:49169216G>A	ENST00000307885.4	-	10	2544	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	617					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGTTCAGGGCATCTTGGGT	0.572																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1849-1851)gCc>gTc		adenylate cyclase 6							72.0	65.0	67.0					12																	49169216		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169216G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1850C>T	12.37:g.49169216G>A	ENSP00000311405:p.Ala617Val					ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V	p.A617V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			10	2544	-			617					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1850C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404130	0.62288	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.76316	-1.01;-1.01;-1.01	5.07	5.07	0.68467	.	0.065591	0.64402	D	0.000015	T	0.78220	0.4249	L	0.45581	1.43	0.58432	D	0.99999	P;P	0.47191	0.696;0.891	P;P	0.48873	0.457;0.593	T	0.75836	-0.3177	10	0.29301	T	0.29	.	17.614	0.88063	0.0:0.0:1.0:0.0	.	617;617	O43306-2;O43306	.;ADCY6_HUMAN	V	617	ENSP00000350536:A617V;ENSP00000446730:A617V;ENSP00000311405:A617V	ENSP00000311405:A617V	A	-	2	0	ADCY6	47455483	0.993000	0.37304	1.000000	0.80357	0.902000	0.53008	2.178000	0.42519	2.533000	0.85409	0.557000	0.71058	GCC		0.572	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		3	33	0	0	0	1	0	3	33				
FLAD1	80308	broad.mit.edu	37	1	154961060	154961060	+	Silent	SNP	A	A	G			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:154961060A>G	ENST00000292180.3	+	2	1174	c.852A>G	c.(850-852)ctA>ctG	p.L284L	FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L|FLAD1_ENST00000368433.1_Silent_p.L284L|FLAD1_ENST00000368431.3_Silent_p.L185L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	284					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAGGAGCTATATGTGGCTG	0.587																																						ENST00000368433.1																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(850-852)ctA>ctG		flavin adenine dinucleotide synthetase 1							46.0	43.0	44.0					1																	154961060		2203	4300	6503	SO:0001819	synonymous_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154961060A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.852A>G	1.37:g.154961060A>G						FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000292180.3_Silent_p.L284L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000368431.3_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L	p.L284L			Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1195	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		284					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.852A>G	CCDS1078.1																																																																																				0.587	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		9	25	0	0	0	1	0	9	25				
ADAMTS20	80070	broad.mit.edu	37	12	43886328	43886328	+	Silent	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:43886328G>A	ENST00000389420.3	-	6	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	ADAMTS20_ENST00000553158.1_Silent_p.D352D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAACAGCAGTGTCATGGTGGG	0.383																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1054-1056)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							171.0	141.0	151.0					12																	43886328		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886328G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1056C>T	12.37:g.43886328G>A						ADAMTS20_ENST00000553158.1_Silent_p.D352D	p.D352D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	1055	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	352			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1056C>T	CCDS31778.2																																																																																				0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	9	0	0	0	1	0	3	9				
HERC1	8925	broad.mit.edu	37	15	64005579	64005579	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr15:64005579G>A	ENST00000443617.2	-	23	4523	c.4436C>T	c.(4435-4437)gCc>gTc	p.A1479V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1479					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCTTCAGAGGCACTTGTTGA	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(4435-4437)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							71.0	72.0	72.0					15																	64005579		2009	4162	6171	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005579G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4436C>T	15.37:g.64005579G>A	ENSP00000390158:p.Ala1479Val					RP11-317G6.1_ENST00000559303.2_RNA	p.A1479V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			23	4523	-			1479					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.4436C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247139	0.59103	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.23950	1.88	5.34	5.34	0.76211	.	0.472681	0.21560	N	0.072582	T	0.18045	0.0433	N	0.08118	0	0.39219	D	0.963469	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.007	T	0.10636	-1.0621	10	0.66056	D	0.02	.	19.419	0.94713	0.0:0.0:1.0:0.0	.	463;1479	B4DKS2;Q15751	.;HERC1_HUMAN	V	1479;463	ENSP00000390158:A1479V	ENSP00000389613:A463V	A	-	2	0	HERC1	61792632	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	6.128000	0.71650	2.658000	0.90341	0.655000	0.94253	GCC		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	71	0	0	0	1	0	4	71				
KRT78	196374	broad.mit.edu	37	12	53241882	53241882	+	Missense_Mutation	SNP	G	G	T	rs376235615		TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:53241882G>T	ENST00000304620.4	-	2	471	c.408C>A	c.(406-408)aaC>aaA	p.N136K	KRT78_ENST00000359499.4_Missense_Mutation_p.N26K	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	136	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGGACCTTGTTCTGCTGCT	0.602																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(76-78)aaC>aaA		keratin 78							40.0	36.0	38.0					12																	53241882		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53241882G>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.408C>A	12.37:g.53241882G>T	ENSP00000306261:p.Asn136Lys					KRT78_ENST00000304620.4_Missense_Mutation_p.N136K	p.N26K			Q8N1N4	K2C78_HUMAN			2	89	-			136			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.78C>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246546	0.80024	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;D	0.97959	-2.85;-4.63	5.12	4.21	0.49690	Filament (1);	.	.	.	.	D	0.99105	0.9692	H	0.98089	4.145	0.31692	N	0.641758	D	0.89917	1.0	D	0.91635	0.999	D	0.97186	0.9854	9	0.87932	D	0	.	9.456	0.38756	0.1523:0.0:0.8477:0.0	.	136	Q8N1N4	K2C78_HUMAN	K	26;136	ENSP00000352479:N26K;ENSP00000306261:N136K	ENSP00000306261:N136K	N	-	3	2	KRT78	51528149	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.704000	0.68347	2.546000	0.85860	0.555000	0.69702	AAC		0.602	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		8	18	1	0	1.12685e-05	1	1.18051e-05	8	18				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	58	0	0	0	1	0	4	58				
RADIL	55698	broad.mit.edu	37	7	4876138	4876138	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:4876138G>A	ENST00000399583.3	-	3	821	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RADIL_ENST00000536091.1_Missense_Mutation_p.R212C|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	212					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACTGTGCGGCGCAACCGGGGT	0.736																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(634-636)Cgc>Tgc		Ras association and DIL domains							12.0	19.0	17.0					7																	4876138		2069	4177	6246	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4876138G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.634C>T	7.37:g.4876138G>A	ENSP00000382492:p.Arg212Cys					RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.R212C	p.R212C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	3	821	-		Ovarian(82;0.0175)	212					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.634C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653151	0.47362	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.25912	3.16;1.77	4.57	4.57	0.56435	.	0.123718	0.56097	D	0.000037	T	0.40862	0.1134	M	0.66506	2.035	0.49389	D	0.99978	D	0.89917	1.0	P	0.59221	0.854	T	0.17715	-1.0360	10	0.38643	T	0.18	-38.9538	10.2857	0.43566	0.0962:0.0:0.9038:0.0	.	212	Q96JH8	RADIL_HUMAN	C	212;186;212	ENSP00000382492:R212C;ENSP00000442533:R212C	ENSP00000320946:R186C	R	-	1	0	RADIL	4842664	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	3.964000	0.56780	2.100000	0.63781	0.462000	0.41574	CGC		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	18	0	0	0	1	0	3	18				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	42	0	0	0	1	0	3	42				
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	4						3	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			400322							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			6	11						6	11	---	---	---	---
EVPLL	645027	broad.mit.edu	37	17	18284713	18284713	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr17:18284713delG	ENST00000399134.4	+	3	454	c.96delG	c.(94-96)ctgfs	p.L32fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	32										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCAGGCCCTGCAGCACCAGC	0.672																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(94-96)ctfs		envoplakin-like							33.0	40.0	38.0					17																	18284713		692	1591	2283	SO:0001589	frameshift_variant	645027							g.chr17:18284713delG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.96delG	17.37:g.18284713delG	ENSP00000382086:p.Leu32fs					RP1-37N7.1_ENST00000579352.1_RNA	p.L32fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			3	454	+			32					B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.96delG	CCDS45626.1																																																																																				0.672	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		2	4						2	4	---	---	---	---
