#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
SPTSSA	171546	broad.mit.edu	37	14	34931373	34931373	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr14:34931373G>C	ENST00000298130.4	-	1	189	c.41C>G	c.(40-42)tCc>tGc	p.S14C		NM_138288.3	NP_612145.2	Q969W0	SPTSA_HUMAN	serine palmitoyltransferase, small subunit A	14					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											GTAGAACCAGGACATCTGCTT	0.697																																						ENST00000298130.4																			0											c.(40-42)tCc>tGc		serine palmitoyltransferase, small subunit A							27.0	25.0	26.0					14																	34931373		2203	4296	6499	SO:0001583	missense	171546				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding	g.chr14:34931373G>C	AK001993	CCDS9647.2	14q13.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000165389	ENSG00000165389			20361	protein-coding gene	gene with protein product	"""small subunit of serine palmitoyltransferase A"""	613540	"""chromosome 14 open reading frame 147"""	C14orf147		19416851	Standard	NM_138288		Approved	ssSPTa	uc001wsc.3	Q969W0	OTTHUMG00000140212	ENST00000298130.4:c.41C>G	14.37:g.34931373G>C	ENSP00000298130:p.Ser14Cys						p.S14C	NM_138288.3	NP_612145.2	Q969W0	SSPTA_HUMAN			1	189	-			14					B2RD54|D3DS93|Q8WTZ7	Missense_Mutation	SNP	ENST00000298130.4	37	c.41C>G	CCDS9647.2	.	.	.	.	.	.	.	.	.	.	g	32	5.131374	0.94473	.	.	ENSG00000165389	ENST00000298130	.	.	.	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82888	-0.0234	8	0.66056	D	0.02	-12.2681	16.7074	0.85376	0.0:0.0:1.0:0.0	.	14	Q969W0	SPTSA_HUMAN	C	14	.	ENSP00000298130:S14C	S	-	2	0	SPTSSA	34001124	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.103000	0.89550	2.243000	0.73865	0.484000	0.47621	TCC		0.697	SPTSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276640.2	NM_138288		4	16	0	0	0	0.029380	0	4	16				
FAM192A	80011	broad.mit.edu	37	16	57201066	57201066	+	Missense_Mutation	SNP	T	T	A	rs143746498	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr16:57201066T>A	ENST00000309137.8	-	5	679	c.421A>T	c.(421-423)Ata>Tta	p.I141L	FAM192A_ENST00000564108.1_Missense_Mutation_p.I141L|FAM192A_ENST00000566077.1_Missense_Mutation_p.I64L|FAM192A_ENST00000569266.1_Missense_Mutation_p.I141L|FAM192A_ENST00000567439.1_Missense_Mutation_p.I141L|FAM192A_ENST00000389447.5_Missense_Mutation_p.I141L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	141						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTGGTTTCTATAGGCTTCACA	0.433													T|||	2	0.000399361	0.0	0.0	5008	,	,		21575	0.0		0.002	False		,,,				2504	0.0					ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(421-423)Ata>Tta		family with sequence similarity 192, member A		T	LEU/ILE	2,3876		0,2,1937	161.0	153.0	155.0		421	0.3	1.0	16	dbSNP_134	155	27,8257		1,25,4116	no	missense	FAM192A	NM_024946.2	5	1,27,6053	AA,AT,TT		0.3259,0.0516,0.2384	benign	141/255	57201066	29,12133	1939	4142	6081	SO:0001583	missense	80011					nucleus		g.chr16:57201066T>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.421A>T	16.37:g.57201066T>A	ENSP00000335808:p.Ile141Leu					FAM192A_ENST00000564108.1_Missense_Mutation_p.I141L|FAM192A_ENST00000566077.1_Missense_Mutation_p.I64L|FAM192A_ENST00000569266.1_Missense_Mutation_p.I141L|FAM192A_ENST00000567439.1_Missense_Mutation_p.I141L|FAM192A_ENST00000389447.5_Missense_Mutation_p.I141L	p.I141L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			5	679	-			141						Missense_Mutation	SNP	ENST00000309137.8	37	c.421A>T	CCDS42168.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	3.326	-0.137639	0.06711	5.16E-4	0.003259	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	6.08	0.348	0.16026	.	0.764316	0.13833	N	0.359640	T	0.24928	0.0605	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	9	0.27785	T	0.31	-8.0652	6.3694	0.21473	0.1399:0.4636:0.0:0.3964	.	141	Q9GZU8	F192A_HUMAN	L	141	.	ENSP00000335808:I141L	I	-	1	0	FAM192A	55758567	0.924000	0.31332	0.976000	0.42696	0.020000	0.10135	0.031000	0.13710	0.116000	0.18110	-0.376000	0.06991	ATA		0.433	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		4	107	0	0	0	0.021553	0	4	107				
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr13:25161457G>A	ENST00000453498.1	+	0	981				TPTE2P6_ENST00000440905.1_RNA																							TTATTTATTCGATTCGTGGTA	0.378																																						ENST00000453498.1																			0																																																			0							g.chr13:25161457G>A																													13.37:g.25161457G>A														0	981	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	34	0	0	0	0.058154	0	4	34				
LILRP2	79166	broad.mit.edu	37	19	55222100	55222100	+	RNA	SNP	C	C	T	rs7245810|rs386810949|rs67342600	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:55222100C>T	ENST00000413439.1	+	0	1627									leukocyte immunoglobulin-like receptor pseudogene 2																		TGACCTCAGCCCACGCGGGGA	0.622													.|||	1446	0.288738	0.5318	0.2147	5008	,	,		17175	0.0764		0.2445	False		,,,				2504	0.2771				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55222100C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55222100C>T														0	1627	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.622	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	99	0	0	0	0.014758	0	5	99				
C15orf39	56905	broad.mit.edu	37	15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr15:75501019C>T	ENST00000360639.2	+	2	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	877						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2629-2631)aCg>aTg		chromosome 15 open reading frame 39							23.0	18.0	20.0					15																	75501019		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501019C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2630C>T	15.37:g.75501019C>T	ENSP00000353854:p.Thr877Met					C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M	p.T877M			Q6ZRI6	CO039_HUMAN			2	2950	+			877					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2630C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298753	0.81025	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61657	-0.7018	10	0.87932	D	0	-17.2293	17.8467	0.88732	0.0:1.0:0.0:0.0	.	439;877	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	M	877;877;275	ENSP00000353854:T877M;ENSP00000378438:T877M	ENSP00000353854:T877M	T	+	2	0	C15orf39	73288072	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	ACG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		4	15	0	0	0	0.014758	0	4	15				
TRIP12	9320	broad.mit.edu	37	2	230664036	230664036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr2:230664036G>T	ENST00000283943.5	-	21	3223	c.3045C>A	c.(3043-3045)taC>taA	p.Y1015*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Y1063*|TRIP12_ENST00000543084.1_Missense_Mutation_p.L342I|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Y745*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1015					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Y1015*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGGAGGTGAGTACTTTGGCC	0.428																																						ENST00000283943.5																			1	Substitution - Nonsense(1)	p.Y1015*(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3043-3045)taC>taA		thyroid hormone receptor interactor 12							196.0	178.0	184.0					2																	230664036		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230664036G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3045C>A	2.37:g.230664036G>T	ENSP00000283943:p.Tyr1015*					TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Y745*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Y1063*|TRIP12_ENST00000543084.1_Missense_Mutation_p.L342I	p.Y1015*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	21	3223	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1015					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.3045C>A	CCDS33391.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136639|8.136639	0.98672|0.98672	.|.	.|.	ENSG00000153827|ENSG00000153827	ENST00000543084|ENST00000283943;ENST00000389045;ENST00000389044	.|.	.|.	.|.	5.0|5.0	0.677|0.677	0.17964|0.17964	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42245|.	0.1194|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36866|.	-0.9730|.	5|.	0.87932|0.54805	D|T	0|0.06	.|.	10.3439|10.3439	0.43895|0.43895	0.6729:0.0:0.3271:0.0|0.6729:0.0:0.3271:0.0	.|.	.|.	.|.	.|.	I|X	342|1015;745;1063	.|.	ENSP00000440715:L342I|ENSP00000283943:Y1015X	L|Y	-|-	1|3	0|2	TRIP12|TRIP12	230372280|230372280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.825000|0.825000	0.27393|0.27393	0.099000|0.099000	0.17552|0.17552	0.591000|0.591000	0.81541|0.81541	CTC|TAC		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		18	77	1	0	8.34094e-07	0.049695	1.12282e-06	18	77				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	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.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	51	0	0	0	0.009096	0	4	51				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																						ENST00000579062.1																			1	Substitution - Missense(1)	p.R183Q(1)	endometrium(1)																																																0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T														0	460	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		5	49	0	0	0	0.029380	0	5	49				
METRNL	284207	broad.mit.edu	37	17	81042863	81042863	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:81042863C>T	ENST00000320095.7	+	2	345	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	74					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGTGTATCTGCGCTGTGCGGC	0.652																																						ENST00000320095.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(220-222)Cgc>Tgc		meteorin, glial cell differentiation regulator-like							107.0	107.0	107.0					17																	81042863		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042863C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.220C>T	17.37:g.81042863C>T	ENSP00000315731:p.Arg74Cys					METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	p.R74C	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	345	+	Breast(20;0.000443)|all_neural(118;0.0779)		74					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.220C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.253567	0.80135	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77405	-0.2600	8	.	.	.	-40.3061	14.3275	0.66530	0.0:1.0:0.0:0.0	.	74	Q641Q3	METRL_HUMAN	C	74	.	.	R	+	1	0	METRNL	78636152	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.058000	0.76676	2.323000	0.78572	0.450000	0.29827	CGC		0.652	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		5	62	0	0	0	0.021553	0	5	62				
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102294715C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T														0	2761	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	12	0	0	0	0.014758	0	4	12				
DYNC1I1	1780	broad.mit.edu	37	7	95442507	95442507	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr7:95442507G>A	ENST00000324972.6	+	4	416		c.e4-1		DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000447467.2_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCTTCACCAGTGCAGCCGCT	0.413																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.e4-1		dynein, cytoplasmic 1, intermediate chain 1							107.0	110.0	109.0					7																	95442507		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442507G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.224-1G>A	7.37:g.95442507G>A						DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000457059.1_Intron		NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	416	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)							B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	ENST00000324972.6	37		CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421907	0.62622	.	.	ENSG00000158560	ENST00000324972;ENST00000437599	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1I1	95280443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.941000	0.99782	0.655000	0.94253	.		0.413	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Intron	36	76	0	0	0	0.092188	0	36	76				
CD209	30835	broad.mit.edu	37	19	7810588	7810588	+	Missense_Mutation	SNP	C	C	G	rs112592254		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:7810588C>G	ENST00000315599.7	-	4	586	c.564G>C	c.(562-564)aaG>aaC	p.K188N	CD209_ENST00000601256.1_Missense_Mutation_p.K164N|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K188N|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.K164N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K164N|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K164N|CD209_ENST00000204801.8_Missense_Mutation_p.K144N|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	188	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCTGCTTAGATTTCT	0.557																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(562-564)aaG>aaC		CD209 molecule							62.0	60.0	61.0					19																	7810588		1952	3957	5909	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810588C>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.564G>C	19.37:g.7810588C>G	ENSP00000315477:p.Lys188Asn					CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K164N|CD209_ENST00000601951.1_Missense_Mutation_p.K164N|CD209_ENST00000601256.1_Missense_Mutation_p.K164N|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K164N|CD209_ENST00000204801.8_Missense_Mutation_p.K144N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K188N	p.K188N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	586	-			188			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.564G>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537301	0.27475	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	0.995	0.995	0.19838	.	.	.	.	.	T	0.42268	0.1195	M	0.69823	2.125	0.09310	N	0.999997	P;P;P;P;D;B;D;D	0.67145	0.835;0.604;0.908;0.95;0.975;0.34;0.97;0.996	P;B;P;P;P;B;B;D	0.77557	0.65;0.318;0.888;0.72;0.776;0.108;0.412;0.99	T	0.15206	-1.0445	9	0.34782	T	0.22	.	5.3585	0.16075	0.0:1.0:0.0:0.0	.	188;164;144;164;188;164;164;188	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	N	188;188;164;144;172	ENSP00000315477:K188N;ENSP00000346373:K188N;ENSP00000315407:K164N;ENSP00000204801:K144N	ENSP00000204801:K144N	K	-	3	2	CD209	7716588	0.092000	0.21681	0.025000	0.17156	0.036000	0.12997	-0.139000	0.10358	0.837000	0.34925	0.298000	0.19748	AAG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		13	130	0	0	0	0.062417	0	13	130				
LILRP2	79166	broad.mit.edu	37	19	55222101	55222101	+	RNA	SNP	C	C	T	rs34539630|rs386810949|rs67342600	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:55222101C>T	ENST00000413439.1	+	0	1628									leukocyte immunoglobulin-like receptor pseudogene 2																		GACCTCAGCCCACGCGGGGAC	0.627													.|||	1446	0.288738	0.5318	0.2147	5008	,	,		17301	0.0764		0.2445	False		,,,				2504	0.2771				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55222101C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55222101C>T														0	1628	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.627	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	99	0	0	0	0.014758	0	5	99				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	41	0	0	0	0.014758	0	4	41				
WNK4	65266	broad.mit.edu	37	17	40948252	40948253	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:40948252_40948253GC>AG	ENST00000246914.5	+	17	3564_3565	c.3543_3544GC>AG	c.(3541-3546)atGCtg>atAGtg	p.1181_1182ML>IV	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1181					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGCTATGCTGTCCAGCCG	0.609																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3541-3543)atG>atA|c.(3544-3546)Ctg>Gtg		WNK lysine deficient protein kinase 4																																				SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948252G>A|g.chr17:40948253C>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		Exception_encountered	17.37:g.40948252_40948253delinsAG	ENSP00000246914:p.M1181_L1182delinsIV						p.M1181I|p.L1182V	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	17	3564|3565	+		Breast(137;0.000143)	1181|1182					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3543G>A|c.3544C>G	CCDS11439.1																																																																																				0.609	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	17|16	0	0	0	0.038147	0	7	16				
ATR	545	broad.mit.edu	37	3	142278216	142278216	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr3:142278216A>G	ENST00000350721.4	-	7	1730	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L	ATR_ENST00000383101.3_Silent_p.L473L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	537					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAAAAATCCAATGACATCCAA	0.363								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1609-1611)Ttg>Ctg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							99.0	96.0	97.0					3																	142278216		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278216A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1609T>C	3.37:g.142278216A>G						ATR_ENST00000383101.3_Silent_p.L473L	p.L537L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			7	1730	-			537					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1609T>C	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		20	34	0	0	0	0.062417	0	20	34				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	44	0	0	0	0.014758	0	3	44				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	52						7	52	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(274-285)agt>ag		inositol-trisphosphate 3-kinase B				530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				SO:0001651	inframe_deletion	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924876_226924884delCTGCCGCTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del					ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	603_611	-		Prostate(94;0.0773)	92					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	c.276_284delCAGCGGCAG	CCDS1555.1																																																																																				0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		4	8						4	8	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		3	6						3	6	---	---	---	---
