#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
BACE2	25825	broad.mit.edu	37	21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr21:42615330T>A	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000347667.5_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(775-777)Tat>Aat		beta-site APP-cleaving enzyme 2							100.0	106.0	104.0					21																	42615330		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42615330T>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.775T>A	21.37:g.42615330T>A	ENSP00000332979:p.Tyr259Asn					BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			5	1238	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	259					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.775T>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032154	0.75504	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.61859	0.07;0.07;0.07	5.7	5.7	0.88788	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.065002	0.64402	D	0.000005	T	0.76176	0.3951	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.988;0.998;0.999	P;D;D	0.74023	0.76;0.965;0.982	T	0.79645	-0.1717	10	0.87932	D	0	.	15.1455	0.72647	0.0:0.0:0.0:1.0	.	259;259;259	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	N	259;259;259;164	ENSP00000332979:Y259N;ENSP00000327528:Y259N;ENSP00000333854:Y259N	ENSP00000333854:Y259N	Y	+	1	0	BACE2	41537200	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.545000	0.60698	2.170000	0.68504	0.482000	0.46254	TAT		0.388	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			8	39	0	0	0	0.047766	0	8	39				
TRIP10	9322	broad.mit.edu	37	19	6743805	6743805	+	Silent	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr19:6743805C>T	ENST00000313244.9	+	7	635	c.600C>T	c.(598-600)gaC>gaT	p.D200D	TRIP10_ENST00000600428.1_Silent_p.D92D|TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	200	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAACCGAGACCAAGCCCACT	0.507																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(274-276)gaC>gaT		thyroid hormone receptor interactor 10							181.0	168.0	172.0					19																	6743805		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743805C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.600C>T	19.37:g.6743805C>T						TRIP10_ENST00000313244.9_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000596758.1_Silent_p.D200D	p.D92D			Q15642	CIP4_HUMAN			7	922	+			200			Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.276C>T																																																																																					0.507	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			19	72	0	0	0	0.055883	0	19	72				
CLCN4	1183	broad.mit.edu	37	X	10176202	10176202	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M|CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(961-963)Gtg>Atg		chloride channel, voltage-sensitive 4							148.0	140.0	143.0					X																	10176202		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176202G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.961G>A	X.37:g.10176202G>A	ENSP00000370213:p.Val321Met					CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1352	+			321					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.961G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.616067	0.87359	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.95069	-3.6;-3.3;-3.6	5.69	5.69	0.88448	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.98465	1.0598	10	0.87932	D	0	-44.4361	18.981	0.92755	0.0:0.0:1.0:0.0	.	321	P51793	CLCN4_HUMAN	M	321;321;227	ENSP00000370213:V321M;ENSP00000370209:V321M;ENSP00000405754:V227M	ENSP00000370209:V321M	V	+	1	0	CLCN4	10136202	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	9.664000	0.98607	2.431000	0.82371	0.586000	0.80456	GTG		0.542	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			37	60	0	0	0	0.086207	0	37	60				
TCN1	6947	broad.mit.edu	37	11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T	rs371448135		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	380	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1138-1140)cGc>cAc		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	102.0	103.0	102.0		1139	0.6	0.0	11		102	0,8590		0,0,4295	no	missense	TCN1	NM_001062.3	29	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	380/434	59620777	1,12991	2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620777C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1139G>A	11.37:g.59620777C>T	ENSP00000257264:p.Arg380His						p.R380H	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1243	-		all_epithelial(135;0.198)	380					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1139G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712534	0.30322	2.27E-4	0.0	ENSG00000134827	ENST00000257264	T	0.29655	1.56	4.75	0.563	0.17296	.	0.918437	0.09038	N	0.857726	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.22386	0.039	T	0.26292	-1.0107	10	0.30854	T	0.27	-18.5463	5.4242	0.16417	0.0:0.5068:0.3095:0.1837	.	380	P20061	TCO1_HUMAN	H	380	ENSP00000257264:R380H	ENSP00000257264:R380H	R	-	2	0	TCN1	59377353	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.141000	0.03207	0.086000	0.17137	0.650000	0.86243	CGC		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		22	100	0	0	0	0.055883	0	22	100				
ITPK1	3705	broad.mit.edu	37	14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	257	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(769-771)cCg>cGg		inositol-tetrakisphosphate 1-kinase							76.0	68.0	70.0					14																	93412807		2203	4299	6502	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412807G>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.770C>G	14.37:g.93412807G>C	ENSP00000267615:p.Pro257Arg					ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R	p.P257R			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	943	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	257			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.770C>G	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.862492	0.51482	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.07800	3.16	5.25	4.37	0.52481	ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48317	-0.9046	10	0.72032	D	0.01	-5.5281	15.4116	0.74929	0.0:0.0:0.8596:0.1404	.	257;257	Q13572;Q13572-2	ITPK1_HUMAN;.	R	257;287;257;138;257;257	ENSP00000346272:P257R	ENSP00000267615:P257R	P	-	2	0	ITPK1	92482560	1.000000	0.71417	0.776000	0.31678	0.001000	0.01503	6.735000	0.74806	1.231000	0.43661	-0.217000	0.12591	CCG		0.627	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		10	46	0	0	0	0.069234	0	10	46				
DGCR8	54487	broad.mit.edu	37	22	20082238	20082238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr22:20082238C>T	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	570	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTCATAGCCCGAGCTACACT	0.542																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1708-1710)Cga>Tga		DGCR8 microprocessor complex subunit							115.0	116.0	115.0					22																	20082238		2203	4300	6503	SO:0001587	stop_gained	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20082238C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1708C>T	22.37:g.20082238C>T	ENSP00000263209:p.Arg570*					DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	p.R570*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			9	2137	+	Colorectal(54;0.0993)		570			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	c.1708C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	45	11.818267	0.99606	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9057	19.686	0.95979	0.0:1.0:0.0:0.0	.	.	.	.	X	570;537;537	.	ENSP00000263209:R570X	R	+	1	2	DGCR8	18462238	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.482000	0.81143	2.755000	0.94549	0.591000	0.81541	CGA		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			17	89	0	0	0	0.043863	0	17	89				
MLLT3	4300	broad.mit.edu	37	9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	116					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(346-348)cAc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	145.0	145.0					9																	20448194		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20448194T>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.347A>G	9.37:g.20448194T>C	ENSP00000369695:p.His116Arg					MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	p.H116R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	4	633	-			116					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.347A>G	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612752	0.87258	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.58101	1.795	0.80722	D	1	B;D;D	0.71674	0.23;0.983;0.998	B;P;D	0.65573	0.118;0.884;0.936	T	0.75892	-0.3157	9	0.51188	T	0.08	-10.2068	15.5261	0.75910	0.0:0.0:0.0:1.0	.	116;113;116	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	R	116;113;155	.	ENSP00000369695:H116R	H	-	2	0	MLLT3	20438194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.235000	0.72332	2.067000	0.61834	0.459000	0.35465	CAC		0.438	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		25	109	0	0	0	0.099896	0	25	109				
PTPN3	5774	broad.mit.edu	37	9	112168897	112168897	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:112168897G>A	ENST00000374541.2	-	18	1741	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	PTPN3_ENST00000412145.1_Splice_Site_p.A415V|PTPN3_ENST00000262539.3_Splice_Site_p.A392V|PTPN3_ENST00000394827.3_Splice_Site_p.A14V|PTPN3_ENST00000446349.1_Splice_Site_p.A370V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGGTGTCCGCCTGGGTGGT	0.527																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e13-1		protein tyrosine phosphatase, non-receptor type 3							154.0	139.0	144.0					9																	112168897		2203	4300	6503	SO:0001630	splice_region_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112168897G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1636-1C>T	9.37:g.112168897G>A						PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice|PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice	p.A415_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			13	3797	-			546					A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.1242_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	37	6.038299	0.97226	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.75484	0.97;0.899;0.986	D	0.84339	0.0526	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	392;501;546	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	V	546;415;370;546;14;392	ENSP00000416654:A415V;ENSP00000395384:A370V;ENSP00000363667:A546V;ENSP00000378304:A14V;ENSP00000262539:A392V	ENSP00000262539:A392V	A	-	2	0	PTPN3	111208718	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	9.469000	0.97679	2.712000	0.92718	0.561000	0.74099	GCG		0.527	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Missense_Mutation	23	92	0	0	0	0.076483	0	23	92				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	43	0	0	0	0.004672	0	3	43				
RNF207	388591	broad.mit.edu	37	1	6270283	6270283	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:6270283C>G	ENST00000377939.4	+	9	928	c.801C>G	c.(799-801)agC>agG	p.S267R	RNF207_ENST00000377948.2_Splice_Site_p.S40R	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	267						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCCCCAGCCAATACGAAG	0.667																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.e9-1		ring finger protein 207							43.0	45.0	45.0					1																	6270283		2203	4300	6503	SO:0001630	splice_region_variant	388591					intracellular	zinc ion binding	g.chr1:6270283C>G	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.801-1C>G	1.37:g.6270283C>G						RNF207_ENST00000377948.2_Splice_Site_p.S40_splice	p.S267_splice	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	9	928	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	267					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Splice_Site	SNP	ENST00000377939.4	37	c.800_splice	CCDS59.2	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880600	0.17467	.	.	ENSG00000158286	ENST00000377948;ENST00000377939	T	0.17691	2.26	4.55	3.62	0.41486	.	0.000000	0.64402	U	0.000011	T	0.21590	0.0520	L	0.35723	1.085	0.41164	D	0.986114	D	0.60575	0.988	P	0.55222	0.771	T	0.01053	-1.1467	9	.	.	.	.	10.4839	0.44711	0.0:0.8427:0.0:0.1573	.	267	Q6ZRF8	RN207_HUMAN	R	40;267	ENSP00000367173:S267R	.	S	+	3	2	RNF207	6192870	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	0.991000	0.29654	2.072000	0.62099	0.655000	0.94253	AGC		0.667	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396	Missense_Mutation	16	44	0	0	0	0.038395	0	16	44				
QARS	5859	broad.mit.edu	37	3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(493-495)Atc>Gtc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						155.0	136.0	143.0					3																	49140801		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49140801T>C	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.493A>G	3.37:g.49140801T>C	ENSP00000307567:p.Ile165Val					QARS_ENST00000414533.1_Missense_Mutation_p.I154V|QARS_ENST00000420147.2_Missense_Mutation_p.I183V	p.I165V			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	830	-			165					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.493A>G	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120444	0.20877	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.20332	2.08;2.1	5.71	5.71	0.89125	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.217659	0.46145	D	0.000308	T	0.16085	0.0387	N	0.13043	0.29	0.43517	D	0.995783	B;B;B	0.31040	0.305;0.008;0.008	B;B;B	0.40659	0.336;0.015;0.015	T	0.02781	-1.1111	10	0.02654	T	1	-19.2258	16.0042	0.80349	0.0:0.0:0.0:1.0	.	183;154;165	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	V	165;154;183;207;165	ENSP00000307567:I165V;ENSP00000390015:I154V	ENSP00000307567:I165V	I	-	1	0	QARS	49115805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.872000	0.48467	2.171000	0.68590	0.528000	0.53228	ATC		0.507	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		14	84	0	0	0	0.043863	0	14	84				
NOP16	51491	broad.mit.edu	37	5	175815433	175815433	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.e1+1		NOP16 nucleolar protein							67.0	76.0	73.0					5																	175815433		2056	4198	6254	SO:0001630	splice_region_variant	51491					nucleolus		g.chr5:175815433C>G		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.107+1G>C	5.37:g.175815433C>G						NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site				Q9Y3C1	NOP16_HUMAN			1	543	-								B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Splice_Site	SNP	ENST00000389158.5	37		CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829530|3.829530	0.71258|0.71258	.|.	.|.	ENSG00000048162|ENSG00000175414	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000507413;ENST00000451293;ENST00000509257|ENST00000503175	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76572	.|0.4006	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79577	.|-0.1746	.|5	.|0.87932	.|D	.|0	.|.	16.7689|16.7689	0.85532|0.85532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|58	.|.	.|ENSP00000424831:H58Q	.|H	-|+	.|3	.|2	NOP16|ARL10	175748039|175748039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.182000|5.182000	0.65059|0.65059	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	.|CAC		0.642	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	Intron	20	88	0	0	0	0.062417	0	20	88				
MOAP1	64112	broad.mit.edu	37	14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	311					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(931-933)cTt>cGt		modulator of apoptosis 1							101.0	102.0	102.0					14																	93649656		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649656A>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.932T>G	14.37:g.93649656A>C	ENSP00000451594:p.Leu311Arg					MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R	p.L311R			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1416	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	311					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.932T>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117744	0.08881	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10005	2.92;2.92	3.36	2.21	0.28008	.	.	.	.	.	T	0.21718	0.0523	L	0.58810	1.83	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.14476	-1.0471	9	0.19147	T	0.46	-0.4678	5.4098	0.16342	0.8713:0.0:0.1287:0.0	.	311	Q96BY2	MOAP1_HUMAN	R	311	ENSP00000298894:L311R;ENSP00000451594:L311R	ENSP00000298894:L311R	L	-	2	0	MOAP1	92719409	0.001000	0.12720	0.002000	0.10522	0.235000	0.25334	0.965000	0.29319	0.679000	0.31345	0.529000	0.55759	CTT		0.517	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			16	97	0	0	0	0.038395	0	16	97				
COL12A1	1303	broad.mit.edu	37	6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1358	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4072-4074)Gtg>Atg		collagen, type XII, alpha 1							172.0	170.0	171.0					6																	75860932		1912	4132	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75860932C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4072G>A	6.37:g.75860932C>T	ENSP00000325146:p.Val1358Met					COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M	p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			21	4381	-			1358			VWFA 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4072G>A	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.802208|4.802208	0.90538|0.90538	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.6|5.6	5.6|5.6	0.85130|0.85130	.|von Willebrand factor, type A (3);	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.91257|0.91257	0.7244|0.7244	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|0.973;1.0	.|D;D	.|0.97110	.|0.937;1.0	D|D	0.92376|0.92376	0.5909|0.5909	5|10	.|0.87932	.|D	.|0	.|.	19.601|19.601	0.95561|0.95561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|194;1358	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	Y|M	99|1358;1358;194;1358;1358	.|ENSP00000325146:V1358M;ENSP00000305147:V194M;ENSP00000412864:V1358M;ENSP00000421216:V1358M	.|ENSP00000325146:V1358M	C|V	-|-	2|1	0|0	COL12A1|COL12A1	75917652|75917652	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.979000|0.979000	0.70002|0.70002	7.487000|7.487000	0.81328|0.81328	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		25	82	0	0	0	0.034045	0	25	82				
CMKLR1	1240	broad.mit.edu	37	12	108686570	108686570	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr12:108686570C>T	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGACCATTGCCCAGAATCCC	0.517																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(169-171)gGc>gAc		chemokine-like receptor 1							102.0	101.0	101.0					12																	108686570		2013	4178	6191	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686570C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.170G>A	12.37:g.108686570C>T	ENSP00000311733:p.Gly57Asp					CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	533	-			57					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.170G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.249076	0.80024	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.229220	0.44483	D	0.000452	T	0.81024	0.4737	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87240	0.2266	10	0.87932	D	0	.	16.8651	0.86027	0.0:1.0:0.0:0.0	.	57	Q99788	CML1_HUMAN	D	57;57;55;55;57;57;57	ENSP00000311733:G57D;ENSP00000401293:G57D;ENSP00000380803:G55D;ENSP00000447579:G55D;ENSP00000449716:G57D;ENSP00000448925:G57D;ENSP00000448362:G57D	ENSP00000311733:G57D	G	-	2	0	CMKLR1	107210700	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.779000	0.85648	2.328000	0.79073	0.472000	0.43445	GGC		0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			7	56	0	0	0	0.038147	0	7	56				
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	C	T	rs532609664		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L			O14709	ZN197_HUMAN	zinc finger protein 197	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1573-1575)ctC>ctT		zinc finger protein 197							69.0	77.0	74.0					3																	44684197		2202	4300	6502	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684197C>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1575C>T	3.37:g.44684197C>T						RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L	p.L525L			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	1742	+			525					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.1575C>T	CCDS2717.1																																																																																				0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		17	101	0	0	0	0.038395	0	17	101				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	44	0	0	0	0.004672	0	3	44				
GPAA1P2	106481722	broad.mit.edu	37	2	111144370	111144370	+	RNA	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr2:111144370T>C	ENST00000488671.1	-	0	1145				AC112229.4_ENST00000606848.1_RNA																							GGCAGCACCATAGTGGCGGCC	0.622																																						ENST00000606848.1																			0																																																			0							g.chr2:111144370T>C																													2.37:g.111144370T>C														0	1370	-									RNA	SNP	ENST00000488671.1	37																																																																																						0.622	RP13-1039J1.4-001	KNOWN	not_organism_supported|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000472131.1			2	6	0	0	0	0.014758	0	2	6				
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428																																						ENST00000315519.2																			1	Substitution - Missense(1)	p.R140Q(1)	endometrium(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(418-420)cGg>cAg		olfactory receptor, family 11, subfamily H, member 6		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	157.0	158.0		419	5.0	1.0	14	dbSNP_134	158	0,8600		0,0,4300	no	missense	OR11H6	NM_001004480.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/331	20692287	1,13005	2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692287G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.419G>A	14.37:g.20692287G>A	ENSP00000319071:p.Arg140Gln						p.R140Q	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	497	+	all_cancers(95;0.00108)		140					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.419G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403002	0.83230	2.27E-4	0.0	ENSG00000176219	ENST00000315519	T	0.76968	-1.06	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000275	T	0.81955	0.4932	M	0.90309	3.105	0.36994	D	0.894939	P	0.46656	0.882	B	0.40477	0.33	D	0.88855	0.3322	10	0.62326	D	0.03	.	15.7549	0.78015	0.0:0.0:1.0:0.0	.	140	Q8NGC7	O11H6_HUMAN	Q	140	ENSP00000319071:R140Q	ENSP00000319071:R140Q	R	+	2	0	OR11H6	19762127	0.966000	0.33281	1.000000	0.80357	0.901000	0.52897	5.505000	0.66981	2.570000	0.86706	0.442000	0.29010	CGG		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			6	83	0	0	0	0.029380	0	6	83				
RP1	6101	broad.mit.edu	37	8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1984					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5950-5952)gCc>gTc		retinitis pigmentosa 1 (autosomal dominant)							52.0	57.0	55.0					8																	55542393		2196	4295	6491	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542393C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5951C>T	8.37:g.55542393C>T	ENSP00000220676:p.Ala1984Val						p.A1984V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6099	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1984						Missense_Mutation	SNP	ENST00000220676.1	37	c.5951C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528338	0.04112	.	.	ENSG00000104237	ENST00000220676	T	0.20200	2.09	5.91	1.97	0.26223	.	0.596032	0.14953	N	0.288787	T	0.14830	0.0358	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.26744	-1.0094	10	0.33940	T	0.23	.	3.6531	0.08210	0.2861:0.4472:0.0:0.2667	.	1984	P56715	RP1_HUMAN	V	1984	ENSP00000220676:A1984V	ENSP00000220676:A1984V	A	+	2	0	RP1	55704946	0.002000	0.14202	0.005000	0.12908	0.163000	0.22366	0.446000	0.21694	0.072000	0.16694	-0.169000	0.13324	GCC		0.308	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	19	0	0	0	0.021553	0	6	19				
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	364					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433																																						ENST00000355045.2																			1	Substitution - Missense(1)	p.R364Q(1)	large_intestine(1)								c.(1090-1092)cGg>cAg		SPATA31 subfamily A, member 7							26.0	30.0	29.0					9																	65506469		939	2292	3231	SO:0001583	missense	26165							g.chr9:65506469C>T		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1091G>A	9.37:g.65506469C>T	ENSP00000347153:p.Arg364Gln						p.R364Q	NM_015667.2	NP_056482.2					4	1119	-								Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.1091G>A	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583656	0.13749	.	.	ENSG00000234734	ENST00000355045	T	0.04049	3.72	1.32	0.38	0.16222	.	0.559459	0.15054	N	0.283107	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.20767	0.031	T	0.48091	-0.9065	10	0.12103	T	0.63	0.0106	3.591	0.07989	0.0:0.7358:0.0:0.2642	.	364	Q8IWB4	F75A7_HUMAN	Q	364	ENSP00000347153:R364Q	ENSP00000347153:R364Q	R	-	2	0	FAM75A7	65246289	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.134000	0.10436	0.131000	0.18576	0.162000	0.16502	CGG		0.433	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667		68	272	0	0	0	0.048971	0	68	272				
UFL1	23376	broad.mit.edu	37	6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:96988523A>G	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CGAAGAAGGAAAGCAACAGGT	0.328																																						ENST00000369278.4																			0											c.(1270-1272)aAa>aGa		UFM1-specific ligase 1							65.0	65.0	65.0					6																	96988523		2203	4295	6498	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96988523A>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1271A>G	6.37:g.96988523A>G	ENSP00000358283:p.Lys424Arg						p.K424R	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			11	1337	+			424					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1271A>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612442	0.66672	.	.	ENSG00000014123	ENST00000369278	T	0.55234	0.53	6.16	5.01	0.66863	.	0.040056	0.85682	N	0.000000	T	0.41534	0.1163	M	0.83603	2.65	0.58432	D	0.999997	P	0.48503	0.911	B	0.41466	0.358	T	0.44544	-0.9321	10	0.30078	T	0.28	-18.8363	11.5485	0.50706	0.931:0.0:0.069:0.0	.	424	O94874	UFL1_HUMAN	R	424	ENSP00000358283:K424R	ENSP00000358283:K424R	K	+	2	0	KIAA0776	97095244	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.008000	0.70739	1.160000	0.42584	0.528000	0.53228	AAA		0.328	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		3	13	0	0	0	0.009096	0	3	13				
CLCN4	1183	broad.mit.edu	37	X	10176202	10176202	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M|CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(961-963)Gtg>Atg		chloride channel, voltage-sensitive 4							148.0	140.0	143.0					X																	10176202		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176202G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.961G>A	X.37:g.10176202G>A	ENSP00000370213:p.Val321Met					CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M|CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M	p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1352	+			321					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.961G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.616067	0.87359	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.95069	-3.6;-3.3;-3.6	5.69	5.69	0.88448	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.98465	1.0598	10	0.87932	D	0	-44.4361	18.981	0.92755	0.0:0.0:1.0:0.0	.	321	P51793	CLCN4_HUMAN	M	321;321;227	ENSP00000370213:V321M;ENSP00000370209:V321M;ENSP00000405754:V227M	ENSP00000370209:V321M	V	+	1	0	CLCN4	10136202	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	9.664000	0.98607	2.431000	0.82371	0.586000	0.80456	GTG		0.542	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			37	60	0	0	0	0.086207	0	37	60				
TCN1	6947	broad.mit.edu	37	11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T	rs371448135		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	380	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1138-1140)cGc>cAc		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	102.0	103.0	102.0		1139	0.6	0.0	11		102	0,8590		0,0,4295	no	missense	TCN1	NM_001062.3	29	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	380/434	59620777	1,12991	2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620777C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1139G>A	11.37:g.59620777C>T	ENSP00000257264:p.Arg380His						p.R380H	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1243	-		all_epithelial(135;0.198)	380					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1139G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712534	0.30322	2.27E-4	0.0	ENSG00000134827	ENST00000257264	T	0.29655	1.56	4.75	0.563	0.17296	.	0.918437	0.09038	N	0.857726	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.22386	0.039	T	0.26292	-1.0107	10	0.30854	T	0.27	-18.5463	5.4242	0.16417	0.0:0.5068:0.3095:0.1837	.	380	P20061	TCO1_HUMAN	H	380	ENSP00000257264:R380H	ENSP00000257264:R380H	R	-	2	0	TCN1	59377353	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.141000	0.03207	0.086000	0.17137	0.650000	0.86243	CGC		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		22	100	0	0	0	0.055883	0	22	100				
ITPK1	3705	broad.mit.edu	37	14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	257	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(769-771)cCg>cGg		inositol-tetrakisphosphate 1-kinase							76.0	68.0	70.0					14																	93412807		2203	4299	6502	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412807G>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.770C>G	14.37:g.93412807G>C	ENSP00000267615:p.Pro257Arg					ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000556954.1_5'UTR	p.P257R			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	943	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	257			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.770C>G	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.862492	0.51482	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.07800	3.16	5.25	4.37	0.52481	ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48317	-0.9046	10	0.72032	D	0.01	-5.5281	15.4116	0.74929	0.0:0.0:0.8596:0.1404	.	257;257	Q13572;Q13572-2	ITPK1_HUMAN;.	R	257;287;257;138;257;257	ENSP00000346272:P257R	ENSP00000267615:P257R	P	-	2	0	ITPK1	92482560	1.000000	0.71417	0.776000	0.31678	0.001000	0.01503	6.735000	0.74806	1.231000	0.43661	-0.217000	0.12591	CCG		0.627	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		10	46	0	0	0	0.069234	0	10	46				
DGCR8	54487	broad.mit.edu	37	22	20082238	20082238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr22:20082238C>T	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	570	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTCATAGCCCGAGCTACACT	0.542																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1708-1710)Cga>Tga		DGCR8 microprocessor complex subunit							115.0	116.0	115.0					22																	20082238		2203	4300	6503	SO:0001587	stop_gained	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20082238C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1708C>T	22.37:g.20082238C>T	ENSP00000263209:p.Arg570*					DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	p.R570*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			9	2137	+	Colorectal(54;0.0993)		570			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	c.1708C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	45	11.818267	0.99606	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9057	19.686	0.95979	0.0:1.0:0.0:0.0	.	.	.	.	X	570;537;537	.	ENSP00000263209:R570X	R	+	1	2	DGCR8	18462238	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.482000	0.81143	2.755000	0.94549	0.591000	0.81541	CGA		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			17	89	0	0	0	0.043863	0	17	89				
MLLT3	4300	broad.mit.edu	37	9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	116					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(346-348)cAc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	145.0	145.0					9																	20448194		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20448194T>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.347A>G	9.37:g.20448194T>C	ENSP00000369695:p.His116Arg					MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron	p.H116R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	4	633	-			116					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.347A>G	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612752	0.87258	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.58101	1.795	0.80722	D	1	B;D;D	0.71674	0.23;0.983;0.998	B;P;D	0.65573	0.118;0.884;0.936	T	0.75892	-0.3157	9	0.51188	T	0.08	-10.2068	15.5261	0.75910	0.0:0.0:0.0:1.0	.	116;113;116	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	R	116;113;155	.	ENSP00000369695:H116R	H	-	2	0	MLLT3	20438194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.235000	0.72332	2.067000	0.61834	0.459000	0.35465	CAC		0.438	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		25	109	0	0	0	0.099896	0	25	109				
PTPN3	5774	broad.mit.edu	37	9	112168897	112168897	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:112168897G>A	ENST00000374541.2	-	18	1741	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	PTPN3_ENST00000412145.1_Splice_Site_p.A415V|PTPN3_ENST00000262539.3_Splice_Site_p.A392V|PTPN3_ENST00000394827.3_Splice_Site_p.A14V|PTPN3_ENST00000446349.1_Splice_Site_p.A370V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGGTGTCCGCCTGGGTGGT	0.527																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e13-1		protein tyrosine phosphatase, non-receptor type 3							154.0	139.0	144.0					9																	112168897		2203	4300	6503	SO:0001630	splice_region_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112168897G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1636-1C>T	9.37:g.112168897G>A						PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice|PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice	p.A415_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			13	3797	-			546					A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.1242_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	37	6.038299	0.97226	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.75484	0.97;0.899;0.986	D	0.84339	0.0526	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	392;501;546	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	V	546;415;370;546;14;392	ENSP00000416654:A415V;ENSP00000395384:A370V;ENSP00000363667:A546V;ENSP00000378304:A14V;ENSP00000262539:A392V	ENSP00000262539:A392V	A	-	2	0	PTPN3	111208718	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	9.469000	0.97679	2.712000	0.92718	0.561000	0.74099	GCG		0.527	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Missense_Mutation	23	92	0	0	0	0.076483	0	23	92				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	43	0	0	0	0.004672	0	3	43				
QARS	5859	broad.mit.edu	37	3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(493-495)Atc>Gtc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						155.0	136.0	143.0					3																	49140801		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49140801T>C	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.493A>G	3.37:g.49140801T>C	ENSP00000307567:p.Ile165Val					QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V	p.I165V			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	830	-			165					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.493A>G	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120444	0.20877	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.20332	2.08;2.1	5.71	5.71	0.89125	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.217659	0.46145	D	0.000308	T	0.16085	0.0387	N	0.13043	0.29	0.43517	D	0.995783	B;B;B	0.31040	0.305;0.008;0.008	B;B;B	0.40659	0.336;0.015;0.015	T	0.02781	-1.1111	10	0.02654	T	1	-19.2258	16.0042	0.80349	0.0:0.0:0.0:1.0	.	183;154;165	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	V	165;154;183;207;165	ENSP00000307567:I165V;ENSP00000390015:I154V	ENSP00000307567:I165V	I	-	1	0	QARS	49115805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.872000	0.48467	2.171000	0.68590	0.528000	0.53228	ATC		0.507	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		14	84	0	0	0	0.043863	0	14	84				
NOP16	51491	broad.mit.edu	37	5	175815433	175815433	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.e1+1		NOP16 nucleolar protein							67.0	76.0	73.0					5																	175815433		2056	4198	6254	SO:0001630	splice_region_variant	51491					nucleolus		g.chr5:175815433C>G		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.107+1G>C	5.37:g.175815433C>G						NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site				Q9Y3C1	NOP16_HUMAN			1	543	-								B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Splice_Site	SNP	ENST00000389158.5	37		CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829530|3.829530	0.71258|0.71258	.|.	.|.	ENSG00000048162|ENSG00000175414	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000507413;ENST00000451293;ENST00000509257|ENST00000503175	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76572	.|0.4006	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79577	.|-0.1746	.|5	.|0.87932	.|D	.|0	.|.	16.7689|16.7689	0.85532|0.85532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|58	.|.	.|ENSP00000424831:H58Q	.|H	-|+	.|3	.|2	NOP16|ARL10	175748039|175748039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.182000|5.182000	0.65059|0.65059	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	.|CAC		0.642	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	Intron	20	88	0	0	0	0.062417	0	20	88				
MOAP1	64112	broad.mit.edu	37	14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	311					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(931-933)cTt>cGt		modulator of apoptosis 1							101.0	102.0	102.0					14																	93649656		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649656A>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.932T>G	14.37:g.93649656A>C	ENSP00000451594:p.Leu311Arg					MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R	p.L311R			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1416	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	311					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.932T>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117744	0.08881	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10005	2.92;2.92	3.36	2.21	0.28008	.	.	.	.	.	T	0.21718	0.0523	L	0.58810	1.83	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.14476	-1.0471	9	0.19147	T	0.46	-0.4678	5.4098	0.16342	0.8713:0.0:0.1287:0.0	.	311	Q96BY2	MOAP1_HUMAN	R	311	ENSP00000298894:L311R;ENSP00000451594:L311R	ENSP00000298894:L311R	L	-	2	0	MOAP1	92719409	0.001000	0.12720	0.002000	0.10522	0.235000	0.25334	0.965000	0.29319	0.679000	0.31345	0.529000	0.55759	CTT		0.517	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			16	97	0	0	0	0.038395	0	16	97				
COL12A1	1303	broad.mit.edu	37	6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1358	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4072-4074)Gtg>Atg		collagen, type XII, alpha 1							172.0	170.0	171.0					6																	75860932		1912	4132	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75860932C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4072G>A	6.37:g.75860932C>T	ENSP00000325146:p.Val1358Met					COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			21	4381	-			1358			VWFA 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4072G>A	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.802208|4.802208	0.90538|0.90538	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.6|5.6	5.6|5.6	0.85130|0.85130	.|von Willebrand factor, type A (3);	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.91257|0.91257	0.7244|0.7244	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|0.973;1.0	.|D;D	.|0.97110	.|0.937;1.0	D|D	0.92376|0.92376	0.5909|0.5909	5|10	.|0.87932	.|D	.|0	.|.	19.601|19.601	0.95561|0.95561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|194;1358	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	Y|M	99|1358;1358;194;1358;1358	.|ENSP00000325146:V1358M;ENSP00000305147:V194M;ENSP00000412864:V1358M;ENSP00000421216:V1358M	.|ENSP00000325146:V1358M	C|V	-|-	2|1	0|0	COL12A1|COL12A1	75917652|75917652	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.979000|0.979000	0.70002|0.70002	7.487000|7.487000	0.81328|0.81328	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		25	82	0	0	0	0.034045	0	25	82				
CMKLR1	1240	broad.mit.edu	37	12	108686570	108686570	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr12:108686570C>T	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGACCATTGCCCAGAATCCC	0.517																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(169-171)gGc>gAc		chemokine-like receptor 1							102.0	101.0	101.0					12																	108686570		2013	4178	6191	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686570C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.170G>A	12.37:g.108686570C>T	ENSP00000311733:p.Gly57Asp					CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	533	-			57					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.170G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.249076	0.80024	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.229220	0.44483	D	0.000452	T	0.81024	0.4737	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87240	0.2266	10	0.87932	D	0	.	16.8651	0.86027	0.0:1.0:0.0:0.0	.	57	Q99788	CML1_HUMAN	D	57;57;55;55;57;57;57	ENSP00000311733:G57D;ENSP00000401293:G57D;ENSP00000380803:G55D;ENSP00000447579:G55D;ENSP00000449716:G57D;ENSP00000448925:G57D;ENSP00000448362:G57D	ENSP00000311733:G57D	G	-	2	0	CMKLR1	107210700	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.779000	0.85648	2.328000	0.79073	0.472000	0.43445	GGC		0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			7	56	0	0	0	0.038147	0	7	56				
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	C	T	rs532609664		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L			O14709	ZN197_HUMAN	zinc finger protein 197	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1573-1575)ctC>ctT		zinc finger protein 197							69.0	77.0	74.0					3																	44684197		2202	4300	6502	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684197C>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1575C>T	3.37:g.44684197C>T						ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L|RP11-944L7.4_ENST00000457331.1_RNA	p.L525L			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	1742	+			525					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.1575C>T	CCDS2717.1																																																																																				0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		17	101	0	0	0	0.038395	0	17	101				
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428																																						ENST00000315519.2																			1	Substitution - Missense(1)	p.R140Q(1)	endometrium(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(418-420)cGg>cAg		olfactory receptor, family 11, subfamily H, member 6		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	157.0	158.0		419	5.0	1.0	14	dbSNP_134	158	0,8600		0,0,4300	no	missense	OR11H6	NM_001004480.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/331	20692287	1,13005	2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692287G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.419G>A	14.37:g.20692287G>A	ENSP00000319071:p.Arg140Gln						p.R140Q	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	497	+	all_cancers(95;0.00108)		140					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.419G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403002	0.83230	2.27E-4	0.0	ENSG00000176219	ENST00000315519	T	0.76968	-1.06	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000275	T	0.81955	0.4932	M	0.90309	3.105	0.36994	D	0.894939	P	0.46656	0.882	B	0.40477	0.33	D	0.88855	0.3322	10	0.62326	D	0.03	.	15.7549	0.78015	0.0:0.0:1.0:0.0	.	140	Q8NGC7	O11H6_HUMAN	Q	140	ENSP00000319071:R140Q	ENSP00000319071:R140Q	R	+	2	0	OR11H6	19762127	0.966000	0.33281	1.000000	0.80357	0.901000	0.52897	5.505000	0.66981	2.570000	0.86706	0.442000	0.29010	CGG		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			6	83	0	0	0	0.029380	0	6	83				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	26	0	0	0	0.009096	0	4	26				
BACE2	25825	broad.mit.edu	37	21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr21:42615330T>A	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000347667.5_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(775-777)Tat>Aat		beta-site APP-cleaving enzyme 2							100.0	106.0	104.0					21																	42615330		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42615330T>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.775T>A	21.37:g.42615330T>A	ENSP00000332979:p.Tyr259Asn					BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			5	1238	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	259					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.775T>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032154	0.75504	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.61859	0.07;0.07;0.07	5.7	5.7	0.88788	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.065002	0.64402	D	0.000005	T	0.76176	0.3951	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.988;0.998;0.999	P;D;D	0.74023	0.76;0.965;0.982	T	0.79645	-0.1717	10	0.87932	D	0	.	15.1455	0.72647	0.0:0.0:0.0:1.0	.	259;259;259	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	N	259;259;259;164	ENSP00000332979:Y259N;ENSP00000327528:Y259N;ENSP00000333854:Y259N	ENSP00000333854:Y259N	Y	+	1	0	BACE2	41537200	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.545000	0.60698	2.170000	0.68504	0.482000	0.46254	TAT		0.388	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			8	39	0	0	0	0.047766	0	8	39				
RP1	6101	broad.mit.edu	37	8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1984					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5950-5952)gCc>gTc		retinitis pigmentosa 1 (autosomal dominant)							52.0	57.0	55.0					8																	55542393		2196	4295	6491	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542393C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5951C>T	8.37:g.55542393C>T	ENSP00000220676:p.Ala1984Val						p.A1984V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6099	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1984						Missense_Mutation	SNP	ENST00000220676.1	37	c.5951C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528338	0.04112	.	.	ENSG00000104237	ENST00000220676	T	0.20200	2.09	5.91	1.97	0.26223	.	0.596032	0.14953	N	0.288787	T	0.14830	0.0358	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.26744	-1.0094	10	0.33940	T	0.23	.	3.6531	0.08210	0.2861:0.4472:0.0:0.2667	.	1984	P56715	RP1_HUMAN	V	1984	ENSP00000220676:A1984V	ENSP00000220676:A1984V	A	+	2	0	RP1	55704946	0.002000	0.14202	0.005000	0.12908	0.163000	0.22366	0.446000	0.21694	0.072000	0.16694	-0.169000	0.13324	GCC		0.308	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	19	0	0	0	0.021553	0	6	19				
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	364					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433																																						ENST00000355045.2																			1	Substitution - Missense(1)	p.R364Q(1)	large_intestine(1)								c.(1090-1092)cGg>cAg		SPATA31 subfamily A, member 7							26.0	30.0	29.0					9																	65506469		939	2292	3231	SO:0001583	missense	26165							g.chr9:65506469C>T		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1091G>A	9.37:g.65506469C>T	ENSP00000347153:p.Arg364Gln						p.R364Q	NM_015667.2	NP_056482.2					4	1119	-								Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.1091G>A	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583656	0.13749	.	.	ENSG00000234734	ENST00000355045	T	0.04049	3.72	1.32	0.38	0.16222	.	0.559459	0.15054	N	0.283107	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.20767	0.031	T	0.48091	-0.9065	10	0.12103	T	0.63	0.0106	3.591	0.07989	0.0:0.7358:0.0:0.2642	.	364	Q8IWB4	F75A7_HUMAN	Q	364	ENSP00000347153:R364Q	ENSP00000347153:R364Q	R	-	2	0	FAM75A7	65246289	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.134000	0.10436	0.131000	0.18576	0.162000	0.16502	CGG		0.433	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667		68	272	0	0	0	0.048971	0	68	272				
UFL1	23376	broad.mit.edu	37	6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:96988523A>G	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CGAAGAAGGAAAGCAACAGGT	0.328																																						ENST00000369278.4																			0											c.(1270-1272)aAa>aGa		UFM1-specific ligase 1							65.0	65.0	65.0					6																	96988523		2203	4295	6498	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96988523A>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1271A>G	6.37:g.96988523A>G	ENSP00000358283:p.Lys424Arg						p.K424R	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			11	1337	+			424					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1271A>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612442	0.66672	.	.	ENSG00000014123	ENST00000369278	T	0.55234	0.53	6.16	5.01	0.66863	.	0.040056	0.85682	N	0.000000	T	0.41534	0.1163	M	0.83603	2.65	0.58432	D	0.999997	P	0.48503	0.911	B	0.41466	0.358	T	0.44544	-0.9321	10	0.30078	T	0.28	-18.8363	11.5485	0.50706	0.931:0.0:0.069:0.0	.	424	O94874	UFL1_HUMAN	R	424	ENSP00000358283:K424R	ENSP00000358283:K424R	K	+	2	0	KIAA0776	97095244	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.008000	0.70739	1.160000	0.42584	0.528000	0.53228	AAA		0.328	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		3	13	0	0	0	0.009096	0	3	13				
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		4	7						4	7	---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC	rs370190435|rs536582109	byFrequency	TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		4	2						4	2	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
