#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
ATP2A2	488	broad.mit.edu	37	12	110783837	110783837	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:110783837C>T	ENST00000539276.2	+	19	2882	c.2773C>T	c.(2773-2775)Ccc>Tcc	p.P925S	ATP2A2_ENST00000395494.2_Missense_Mutation_p.P898S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	925					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAGGATGCCCCCCTGGGA	0.577																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2692-2694)Ccc>Tcc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							172.0	139.0	150.0					12																	110783837		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783837C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2773C>T	12.37:g.110783837C>T	ENSP00000440045:p.Pro925Ser					ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S	p.P898S			P16615	AT2A2_HUMAN			18	3255	+			925					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2692C>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.214102|4.214102	0.79352|0.79352	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.88046	.|-2.33;-2.33;-2.33	6.17|6.17	6.17|6.17	0.99709|0.99709	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91905|0.91905	0.7437|0.7437	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.39748	.|0.686;0.296;0.6	.|P;B;B	.|0.44811	.|0.461;0.097;0.375	D|D	0.91551|0.91551	0.5257|0.5257	5|10	.|0.59425	.|D	.|0.04	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|898;925;925	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	V|S	815|925;898;925	.|ENSP00000311186:P925S;ENSP00000378872:P898S;ENSP00000440045:P925S	.|ENSP00000311186:P925S	A|P	+|+	2|1	0|0	ATP2A2|ATP2A2	109268220|109268220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		4	191	0	0	0	0.150653	0	4	191				
OCRL	4952	broad.mit.edu	37	X	128709895	128709895	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709895T>C	ENST00000371113.4	+	17	1900	c.1735T>C	c.(1735-1737)Ttt>Ctt	p.F579L	OCRL_ENST00000357121.5_Missense_Mutation_p.F579L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	579	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAATGTGAAGTTTCGGCAACT	0.408																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1735-1737)Ttt>Ctt		oculocerebrorenal syndrome of Lowe							116.0	113.0	114.0					X																	128709895		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709895T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1735T>C	X.37:g.128709895T>C	ENSP00000360154:p.Phe579Leu					OCRL_ENST00000357121.5_Missense_Mutation_p.F579L	p.F579L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			17	1900	+			579					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1735T>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993817	0.93167	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95069	-3.6;-3.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.944	D	0.97606	1.0126	10	0.87932	D	0	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	579;579	Q01968-2;Q01968	.;OCRL_HUMAN	L	579	ENSP00000360154:F579L;ENSP00000349635:F579L	ENSP00000349635:F579L	F	+	1	0	OCRL	128537576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		85	129	0	0	0	0.870114	0	85	129				
EPHB1	2047	broad.mit.edu	37	3	134670486	134670486	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:134670486C>T	ENST00000398015.3	+	3	767	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	133	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCTGAGGCCCCCTACCTCAA	0.507																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(397-399)Ccc>Tcc		EPH receptor B1							117.0	117.0	117.0					3																	134670486		2002	4220	6222	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670486C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.397C>T	3.37:g.134670486C>T	ENSP00000381097:p.Pro133Ser					EPHB1_ENST00000488154.1_3'UTR	p.P133S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	767	+			133					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.397C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358433	0.82243	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.03386	3.95;3.95;3.95	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01118	-1.1446	10	0.36615	T	0.2	.	19.3701	0.94480	0.0:1.0:0.0:0.0	.	133;133	B5A969;P54762	.;EPHB1_HUMAN	S	111;133;111	ENSP00000417435:P111S;ENSP00000381097:P133S;ENSP00000418352:P111S	ENSP00000381097:P133S	P	+	1	0	EPHB1	136153176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.574000	0.86865	0.650000	0.86243	CCC		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		72	182	0	0	0	0.870114	0	72	182				
CLCC1	23155	broad.mit.edu	37	1	109492526	109492526	+	Silent	SNP	T	T	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:109492526T>C	ENST00000369971.2	-	3	276	c.147A>G	c.(145-147)tcA>tcG	p.S49S	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369976.1_Silent_p.S49S	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	49						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCTTTTCCCCTGAAATACCAT	0.294																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(145-147)tcA>tcG		chloride channel CLIC-like 1							56.0	57.0	57.0					1																	109492526		2203	4290	6493	SO:0001819	synonymous_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109492526T>C	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.147A>G	1.37:g.109492526T>C						CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S	p.S49S	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	3	276	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	49					O94861|Q8WYP8|Q8WYP9|Q9BU25	Silent	SNP	ENST00000369971.2	37	c.147A>G	CCDS41362.1																																																																																				0.294	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		4	89	0	0	0	0.150653	0	4	89				
ATP8B2	57198	broad.mit.edu	37	1	154318750	154318750	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:154318750A>G	ENST00000368489.3	+	25	2921	c.2921A>G	c.(2920-2922)gAg>gGg	p.E974G		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	960					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGCTGTATGAGCCGGGCCAG	0.572																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2920-2922)gAg>gGg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							92.0	89.0	90.0					1																	154318750		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154318750A>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2921A>G	1.37:g.154318750A>G	ENSP00000357475:p.Glu974Gly						p.E974G	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	2921	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		960					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2921A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426838	0.43020	.	.	ENSG00000143515	ENST00000368489	D	0.88431	-2.38	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	L	0.41415	1.275	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.72181	-0.4368	10	0.25106	T	0.35	.	12.4858	0.55872	1.0:0.0:0.0:0.0	.	974	P98198-3	.	G	974	ENSP00000357475:E974G	ENSP00000357475:E974G	E	+	2	0	ATP8B2	152585374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.062000	0.71155	1.794000	0.52575	0.459000	0.35465	GAG		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		3	172	0	0	0	0.150653	0	3	172				
SDK2	54549	broad.mit.edu	37	17	71375612	71375612	+	Silent	SNP	C	C	T	rs144878236	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr17:71375612C>T	ENST00000392650.3	-	35	4839	c.4839G>A	c.(4837-4839)ccG>ccA	p.P1613P	SDK2_ENST00000388726.3_Silent_p.P1594P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1613	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGACCTCCTGCGGGGGGCTGG	0.657													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		15210	0.001		0.0	False		,,,				2504	0.0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4837-4839)ccG>ccA		sidekick cell adhesion molecule 2		C		52,4354	51.6+/-87.1	0,52,2151	39.0	38.0	38.0		4839	-9.2	0.1	17	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	SDK2	NM_001144952.1		0,52,6450	TT,TC,CC		0.0,1.1802,0.3999		1613/2173	71375612	52,12952	2203	4299	6502	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71375612C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4839G>A	17.37:g.71375612C>T						SDK2_ENST00000388726.3_Silent_p.P1594P	p.P1613P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			35	4839	-			1613			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4839G>A	CCDS45769.1																																																																																				0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		17	28	0	0	0	0.575678	0	17	28				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	67	0	0	0	0.150653	0	4	67				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		2	21	0	0	0	0.115264	0	2	21				
SCYL3	57147	broad.mit.edu	37	1	169857896	169857896	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:169857896G>T	ENST00000367770.1	-	1	133	c.86C>A	c.(85-87)gCt>gAt	p.A29D	SCYL3_ENST00000367771.6_Missense_Mutation_p.A29D|SCYL3_ENST00000367772.4_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCAGTACAGCGGGATAAAC	0.418																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(85-87)gCt>gAt		SCY1-like 3 (S. cerevisiae)							190.0	176.0	181.0					1																	169857896		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169857896G>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.86C>A	1.37:g.169857896G>T	ENSP00000356744:p.Ala29Asp					SCYL3_ENST00000367771.5_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.A29D	p.A29D	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			2	283	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		29			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.86C>A	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126210	0.94429	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.30448	1.53;2.15;1.53;2.07	5.28	5.28	0.74379	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051561	0.85682	D	0.000000	T	0.51449	0.1675	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.75484	0.947;0.986	T	0.51100	-0.8748	9	.	.	.	-12.1116	18.8736	0.92325	0.0:0.0:1.0:0.0	.	29;29	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	D	29	ENSP00000356746:A29D;ENSP00000356745:A29D;ENSP00000356744:A29D;ENSP00000407993:A29D	.	A	-	2	0	SCYL3	168124520	1.000000	0.71417	0.116000	0.21606	0.985000	0.73830	9.130000	0.94437	2.623000	0.88846	0.655000	0.94253	GCT		0.418	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		4	112	1	0	0.000602214	0.184627	0.000699346	4	112				
KRTAP4-6	81871	broad.mit.edu	37	17	39296226	39296226	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr17:39296226G>A	ENST00000345847.4	-	1	513	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	172	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGACTGGACGCAGgcagcag	0.657																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(514-516)Cgt>Tgt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296226G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.514C>T	17.37:g.39296226G>A	ENSP00000328270:p.Arg172Cys						p.R172C	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	513	-			168					Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.514C>T	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	5.777	0.327688	0.10956	.	.	ENSG00000198090	ENST00000345847	T	0.01422	4.91	4.66	1.45	0.22620	.	.	.	.	.	T	0.05135	0.0137	M	0.87269	2.87	0.09310	N	1	.	.	.	.	.	.	T	0.13818	-1.0495	7	0.66056	D	0.02	.	5.9713	0.19353	0.0921:0.0:0.3994:0.5085	.	.	.	.	C	172	ENSP00000328270:R172C	ENSP00000328270:R172C	R	-	1	0	KRTAP4-6	36549752	0.002000	0.14202	0.059000	0.19551	0.089000	0.18198	0.438000	0.21559	0.167000	0.19631	-0.259000	0.10710	CGT		0.657	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	3	0	0	0	0.248553	0	5	3				
TNS1	7145	broad.mit.edu	37	2	218696243	218696243	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:218696243G>C	ENST00000171887.4	-	20	3385	c.2933C>G	c.(2932-2934)aCa>aGa	p.T978R	TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	978					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGACAGGGGTGTCTTGGCCAG	0.652																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2932-2934)aCa>aGa		tensin 1							37.0	36.0	36.0					2																	218696243		2203	4299	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218696243G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2933C>G	2.37:g.218696243G>C	ENSP00000171887:p.Thr978Arg					TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R	p.T978R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	20	3385	-		Renal(207;0.0483)|Lung NSC(271;0.213)	978					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2933C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330953	0.81690	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.93712	-3.12;1.66;-3.27;-3.19	5.02	5.02	0.67125	.	0.724631	0.11103	U	0.599381	D	0.95348	0.8490	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.961	D	0.94282	0.7521	10	0.72032	D	0.01	.	18.1161	0.89555	0.0:0.0:1.0:0.0	.	978;978;978	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	978;137;978;978	ENSP00000171887:T978R;ENSP00000394171:T137R;ENSP00000408724:T978R;ENSP00000406016:T978R	ENSP00000171887:T978R	T	-	2	0	TNS1	218404488	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.437000	0.90302	2.593000	0.87608	0.561000	0.74099	ACA		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	14	0	0	0	0.335167	0	8	14				
ABI3BP	25890	broad.mit.edu	37	3	100567712	100567712	+	Silent	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:100567712C>T	ENST00000284322.5	-	16	1492	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	ABI3BP_ENST00000471714.1_Silent_p.Q510Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q|ABI3BP_ENST00000383691.4_5'Flank	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	461	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGTAGTTTGCTGGGGAGCTG	0.398																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1528-1530)caG>caA		ABI family, member 3 (NESH) binding protein							140.0	137.0	138.0					3																	100567712		1816	4082	5898	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100567712C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1383G>A	3.37:g.100567712C>T						ABI3BP_ENST00000284322.5_Silent_p.Q461Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q	p.Q510Q			Q7Z7G0	TARSH_HUMAN			18	1639	-			461			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.1530G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543762	0.13312	.	.	ENSG00000154175	ENST00000533855	.	.	.	5.75	1.94	0.25998	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.21290	N	0.999736	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	0.6235	9.813	0.40835	0.0:0.6452:0.0:0.3548	.	.	.	.	N	139	.	.	S	-	2	0	ABI3BP	102050402	0.018000	0.18449	0.955000	0.39395	0.970000	0.65996	0.070000	0.14573	0.454000	0.26884	-0.145000	0.13849	AGC		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	75	0	0	0	0.150653	0	3	75				
SDHD	6392	broad.mit.edu	37	11	111959647	111959647	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr11:111959647C>T	ENST00000375549.3	+	3	361	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	SDHD_ENST00000528048.1_Intron|SDHD_ENST00000532699.1_Missense_Mutation_p.L76F|SDHD_ENST00000525291.1_Missense_Mutation_p.L37F|SDHD_ENST00000528182.1_Missense_Mutation_p.L76F|TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000526592.1_Missense_Mutation_p.L76F|SDHD_ENST00000528021.1_Missense_Mutation_p.L76F|TIMM8B_ENST00000504148.2_5'Flank|TIMM8B_ENST00000507614.1_5'Flank	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	76					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	CAGTGTTTTGCTCCTGGGTCT	0.498			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375549.3			yes	Rec		Familial paraganglioma	11	11q23	6392	"""Mis, N, F, S"""	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""			O		"""paraganglioma, pheochromocytoma"""			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(226-228)Ctc>Ttc		succinate dehydrogenase complex, subunit D, integral membrane protein	Succinic acid(DB00139)						78.0	77.0	77.0					11																	111959647		2201	4294	6495	SO:0001583	missense	6392	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	g.chr11:111959647C>T	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.226C>T	11.37:g.111959647C>T	ENSP00000364699:p.Leu76Phe					SDHD_ENST00000525291.1_Missense_Mutation_p.L37F|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.L76F|SDHD_ENST00000528021.1_Missense_Mutation_p.L76F|SDHD_ENST00000526592.1_Missense_Mutation_p.L76F|SDHD_ENST00000532699.1_Missense_Mutation_p.L76F	p.L76F	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	3	361	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	76					A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	c.226C>T	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005723	0.74932	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68	5.04	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.99190	0.9719	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.99671	1.0996	10	0.62326	D	0.03	-3.599	8.1814	0.31313	0.1675:0.7534:0.0:0.0792	.	76	O14521	DHSD_HUMAN	F	76;76;76;76;37	ENSP00000364699:L76F;ENSP00000435475:L76F;ENSP00000432465:L76F;ENSP00000432005:L76F;ENSP00000436669:L37F	ENSP00000436395:L76F	L	+	1	0	SDHD	111464857	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.812000	0.38952	1.074000	0.40909	0.585000	0.79938	CTC		0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002		5	89	0	0	0	0.184627	0	5	89				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	89	0	0	0	0.150653	0	3	89				
GLCE	26035	broad.mit.edu	37	15	69561376	69561376	+	Silent	SNP	G	G	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr15:69561376G>T	ENST00000261858.2	+	5	1875	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	GLCE_ENST00000559420.2_Silent_p.L485L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	549					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGCCATGCTGCCCTTGTATG	0.488																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1645-1647)ctG>ctT		glucuronic acid epimerase							167.0	148.0	155.0					15																	69561376		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561376G>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1647G>T	15.37:g.69561376G>T						GLCE_ENST00000559420.2_Silent_p.L485L	p.L549L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1875	+			549					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1647G>T	CCDS32277.1																																																																																				0.488	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		4	188	1	0	0.150653	0.150653	0.164349	4	188				
OR5L2	26338	broad.mit.edu	37	11	55594762	55594762	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr11:55594762T>A	ENST00000378397.1	+	1	68	c.68T>A	c.(67-69)tTg>tAg	p.L23*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTCCCTGAGTTGAGAGTCTGC	0.488										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(67-69)tTg>tAg		olfactory receptor, family 5, subfamily L, member 2							240.0	221.0	227.0					11																	55594762		2200	4293	6493	SO:0001587	stop_gained	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594762T>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.68T>A	11.37:g.55594762T>A	ENSP00000367650:p.Leu23*	HNSCC(27;0.073)					p.L23*	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	68	+		all_epithelial(135;0.208)	23					Q6IF66|Q96RB2	Nonsense_Mutation	SNP	ENST00000378397.1	37	c.68T>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.735098	0.48939	.	.	ENSG00000205030	ENST00000378397	.	.	.	5.31	4.15	0.48705	.	0.000000	0.38778	N	0.001564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4956	11.6298	0.51166	0.0:0.0:0.149:0.851	.	.	.	.	X	23	.	ENSP00000367650:L23X	L	+	2	0	OR5L2	55351338	0.011000	0.17503	0.002000	0.10522	0.004000	0.04260	1.916000	0.39986	0.951000	0.37770	0.509000	0.49947	TTG		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	368	0	0	0	0.248553	0	7	368				
RAB25	57111	broad.mit.edu	37	1	156038145	156038145	+	Silent	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:156038145G>A	ENST00000361084.5	+	3	565	c.324G>A	c.(322-324)aaG>aaA	p.K108K	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	108					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GATGGCTGAAGGAGCTCTATG	0.582																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(322-324)aaG>aaA		RAB25, member RAS oncogene family							106.0	109.0	108.0					1																	156038145		2155	4271	6426	SO:0001819	synonymous_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038145G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.324G>A	1.37:g.156038145G>A						RAB25_ENST00000487325.1_3'UTR	p.K108K	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	565	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		108					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Silent	SNP	ENST00000361084.5	37	c.324G>A	CCDS41413.1																																																																																				0.582	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			5	211	0	0	0	0.184627	0	5	211				
KLB	152831	broad.mit.edu	37	4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGGGGGGTGCGCAAGCTGCTG	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2608-2610)cGc>cAc		klotho beta							63.0	68.0	67.0					4																	39448955		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448955G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2609G>A	4.37:g.39448955G>A	ENSP00000257408:p.Arg870His						p.R870H	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2706	+			870			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2609G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912354	0.92178	.	.	ENSG00000134962	ENST00000257408	T	0.36699	1.24	5.23	4.39	0.52855	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119942	0.56097	D	0.000040	T	0.62146	0.2404	M	0.83312	2.635	0.43471	D	0.99568	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.979	T	0.68796	-0.5314	10	0.87932	D	0	-7.3766	14.0442	0.64695	0.0737:0.0:0.9263:0.0	.	861;870	B7ZL50;Q86Z14	.;KLOTB_HUMAN	H	870	ENSP00000257408:R870H	ENSP00000257408:R870H	R	+	2	0	KLB	39125350	1.000000	0.71417	0.010000	0.14722	0.261000	0.26267	6.650000	0.74368	1.200000	0.43188	0.313000	0.20887	CGC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		4	171	0	0	0	0.184627	0	4	171				
TPH2	121278	broad.mit.edu	37	12	72388217	72388217	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:72388217A>G	ENST00000333850.3	+	8	1082		c.e8-1			NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2						aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTTTTTTGTCAGAGACACATG	0.393																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.e8-1		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						140.0	136.0	137.0					12																	72388217		2203	4300	6503	SO:0001630	splice_region_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72388217A>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.942-1A>G	12.37:g.72388217A>G								NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			8	1082	+								A6NGA4|Q14CB0	Splice_Site	SNP	ENST00000333850.3	37		CCDS31859.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070149	0.55539	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPH2	70674484	1.000000	0.71417	0.969000	0.41365	0.364000	0.29643	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	.		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	Intron	82	101	0	0	0	0.870114	0	82	101				
TPST2	8459	broad.mit.edu	37	22	26937461	26937461	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr22:26937461G>A	ENST00000338754.4	-	3	406	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	TPST2_ENST00000398110.2_Missense_Mutation_p.R46W|TPST2_ENST00000403880.1_Missense_Mutation_p.R46W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	46					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGCTCAGGCCGCATGGCCCCC	0.701																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(136-138)Cgg>Tgg		tyrosylprotein sulfotransferase 2							45.0	39.0	41.0					22																	26937461		2185	4257	6442	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937461G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.136C>T	22.37:g.26937461G>A	ENSP00000339813:p.Arg46Trp					TPST2_ENST00000403880.1_Missense_Mutation_p.R46W|TPST2_ENST00000398110.2_Missense_Mutation_p.R46W	p.R46W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	406	-			46					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.136C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299440	0.23650	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000442495;ENST00000454778;ENST00000440953;ENST00000453117;ENST00000450022	.	.	.	4.95	1.41	0.22369	.	0.398194	0.20982	N	0.082188	T	0.38374	0.1038	N	0.24115	0.695	0.38148	D	0.938657	B	0.06786	0.001	B	0.01281	0.0	T	0.26744	-1.0094	9	0.66056	D	0.02	-23.8602	6.5609	0.22485	0.0907:0.0:0.3942:0.5151	.	46	O60704	TPST2_HUMAN	W	46	.	ENSP00000339813:R46W	R	-	1	2	TPST2	25267461	0.999000	0.42202	0.997000	0.53966	0.209000	0.24338	1.285000	0.33261	0.479000	0.27511	-0.192000	0.12808	CGG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		3	51	0	0	0	0.150653	0	3	51				
CACNA1B	774	broad.mit.edu	37	9	140809138	140809138	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr9:140809138G>A	ENST00000371372.1	+	5	800	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	219					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCATGAAGGCCATGGTTCC	0.557																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(655-657)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						119.0	117.0	118.0					9																	140809138		2114	4227	6341	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809138G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.655G>A	9.37:g.140809138G>A	ENSP00000360423:p.Ala219Thr					CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR	p.A219T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	800	+	all_cancers(76;0.166)		219					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.655G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119467	0.77323	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	4.34	4.34	0.51931	.	0.057086	0.64402	D	0.000001	D	0.99048	0.9674	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	.	17.0399	0.86486	0.0:0.0:1.0:0.0	.	219	B1AQK6	.	T	219	ENSP00000360423:A219T;ENSP00000277551:A219T;ENSP00000360414:A219T;ENSP00000360408:A219T;ENSP00000360406:A219T	ENSP00000277551:A219T	A	+	1	0	CACNA1B	139928959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.478000	0.97927	2.218000	0.71995	0.561000	0.74099	GCC		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		12	29	0	0	0	0.387290	0	12	29				
OR2A12	346525	broad.mit.edu	37	7	143793094	143793094	+	Silent	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr7:143793094G>A	ENST00000408949.2	+	1	954	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGGTGAAAGGGGCTCTAAAGA	0.453																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(892-894)ggG>ggA		olfactory receptor, family 2, subfamily A, member 12							175.0	169.0	171.0					7																	143793094		1873	4107	5980	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793094G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.894G>A	7.37:g.143793094G>A							p.G298G	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	954	+	Melanoma(164;0.0783)		298					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.894G>A	CCDS43670.1																																																																																				0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			5	383	0	0	0	0.184627	0	5	383				
OCRL	4952	broad.mit.edu	37	X	128709875	128709875	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709875T>A	ENST00000371113.4	+	17	1880	c.1715T>A	c.(1714-1716)tTt>tAt	p.F572Y	OCRL_ENST00000357121.5_Splice_Site_p.F572Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	572	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATTCCCCAGTTTGTGTTTGAA	0.393																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.e17-1		oculocerebrorenal syndrome of Lowe							103.0	102.0	102.0					X																	128709875		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709875T>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1714-1T>A	X.37:g.128709875T>A						OCRL_ENST00000357121.5_Splice_Site_p.F572_splice	p.F572_splice	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			17	1880	+			572					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.1713_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554801	0.86231	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94613	-3.47;-3.47	5.69	5.69	0.88448	.	0.144593	0.64402	D	0.000004	D	0.96962	0.9008	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.926	D	0.97431	1.0015	10	0.72032	D	0.01	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	572;572	Q01968-2;Q01968	.;OCRL_HUMAN	Y	572	ENSP00000360154:F572Y;ENSP00000349635:F572Y	ENSP00000349635:F572Y	F	+	2	0	OCRL	128537556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	81	111	0	0	0	0.870114	0	81	111				
UQCC2	84300	broad.mit.edu	37	6	33669185	33669185	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr6:33669185C>G	ENST00000607484.1	-	2	191	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	51					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCACAGGCCTCAGGCTCTGCA	0.473																																						ENST00000607484.1																			0											c.(151-153)Gag>Cag									137.0	132.0	134.0					6																	33669185		2203	4300	6503	SO:0001583	missense	0							g.chr6:33669185C>G		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.151G>C	6.37:g.33669185C>G	ENSP00000476140:p.Glu51Gln					MNF1_ENST00000374214.3_Intron	p.E51Q	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			2	191	-			51					B2R4I0	Missense_Mutation	SNP	ENST00000607484.1	37	c.151G>C	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941362	0.92526	.	.	ENSG00000137288	ENST00000374231	.	.	.	6.02	6.02	0.97574	.	0.106734	0.64402	D	0.000007	T	0.73202	0.3557	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.71842	-0.4470	9	0.51188	T	0.08	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	51	Q9BRT2	CF125_HUMAN	Q	51	.	ENSP00000363348:E51Q	E	-	1	0	C6orf125	33777163	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	5.038000	0.64177	2.865000	0.98341	0.655000	0.94253	GAG		0.473	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		6	143	0	0	0	0.217242	0	6	143				
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T	rs202209437		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(361-363)Cgt>Tgt		olfactory receptor, family 2, subfamily L, member 3							265.0	269.0	268.0					1																	248224344		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224344C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.361C>T	1.37:g.248224344C>T	ENSP00000353044:p.Arg121Cys					OR2L13_ENST00000366478.2_Intron	p.R121C	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	361	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.361C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	9.444	1.088746	0.20390	.	.	ENSG00000198128	ENST00000359959	T	0.77358	-1.09	1.91	0.938	0.19500	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.74711	0.3752	M	0.79614	2.46	0.41081	D	0.985523	B	0.22983	0.078	B	0.20184	0.028	T	0.69614	-0.5098	10	0.66056	D	0.02	.	7.9507	0.30012	0.0:0.8623:0.0:0.1377	.	121	Q8NG85	OR2L3_HUMAN	C	121	ENSP00000353044:R121C	ENSP00000353044:R121C	R	+	1	0	OR2L3	246290967	0.003000	0.15002	0.008000	0.14137	0.005000	0.04900	-0.032000	0.12266	0.121000	0.18284	-0.379000	0.06801	CGT		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		136	182	0	0	0	0.870114	0	136	182				
KANK2	25959	broad.mit.edu	37	19	11287390	11287390	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:11287390C>T	ENST00000586659.1	-	7	1938	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	KANK2_ENST00000432929.2_Missense_Mutation_p.A550T|KANK2_ENST00000355150.5_Missense_Mutation_p.A542T|KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGCTTCGGCCACACTCGGA	0.622																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1648-1650)Gcc>Acc		KN motif and ankyrin repeat domains 2							99.0	92.0	94.0					19																	11287390		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11287390C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1624G>A	19.37:g.11287390C>T	ENSP00000465650:p.Ala542Thr					KANK2_ENST00000355150.5_Missense_Mutation_p.A542T|KANK2_ENST00000586659.1_Missense_Mutation_p.A542T|KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T	p.A550T	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			7	2008	-			542					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1648G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635260	0.47049	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39056	1.1;1.13	5.29	0.431	0.16523	.	0.455939	0.21234	N	0.077937	T	0.31263	0.0791	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.041;0.073	B;B	0.24394	0.037;0.053	T	0.14531	-1.0469	10	0.18276	T	0.48	-11.2264	5.4094	0.16341	0.1256:0.4462:0.3477:0.0806	.	542;550	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	T	550;542	ENSP00000395650:A550T;ENSP00000347276:A542T	ENSP00000347276:A542T	A	-	1	0	KANK2	11148390	0.001000	0.12720	0.011000	0.14972	0.237000	0.25408	0.022000	0.13511	0.687000	0.31509	0.462000	0.41574	GCC		0.622	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		27	112	0	0	0	0.681144	0	27	112				
SEC62	7095	broad.mit.edu	37	3	169700673	169700673	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:169700673G>A	ENST00000337002.4	+	4	488	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	144					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						gaaaaaaaaagatggtgaaaa	0.289																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(430-432)Gat>Aat		SEC62 homolog (S. cerevisiae)							20.0	23.0	22.0					3																	169700673		2061	4208	6269	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700673G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.430G>A	3.37:g.169700673G>A	ENSP00000337688:p.Asp144Asn					SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	p.D144N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	488	+			144					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.430G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546577	0.65198	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	D;D	0.83163	-1.69;-1.69	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422619	0.28465	N	0.015260	T	0.76863	0.4047	L	0.46157	1.445	0.50813	D	0.999892	P	0.37914	0.611	B	0.35240	0.198	T	0.73646	-0.3917	10	0.15499	T	0.54	-6.1389	15.8813	0.79207	0.0:0.0:0.864:0.136	.	144	Q99442	SEC62_HUMAN	N	144	ENSP00000337688:D144N;ENSP00000420331:D144N	ENSP00000337688:D144N	D	+	1	0	SEC62	171183367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.700000	0.92200	0.585000	0.79938	GAT		0.289	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			3	48	0	0	0	0.115264	0	3	48				
NAV3	89795	broad.mit.edu	37	12	78515989	78515989	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:78515989C>T	ENST00000397909.2	+	16	4192	c.4019C>T	c.(4018-4020)aCa>aTa	p.T1340I	NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1340	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACTCTTTCACATCAGGTGGT	0.517										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4018-4020)aCa>aTa		neuron navigator 3							87.0	86.0	86.0					12																	78515989		2011	4188	6199	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515989C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4019C>T	12.37:g.78515989C>T	ENSP00000381007:p.Thr1340Ile	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I	p.T1340I			Q8IVL0	NAV3_HUMAN			16	4192	+			1340			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4019C>T		.	.	.	.	.	.	.	.	.	.	C	19.20	3.781644	0.70222	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.27557	1.66;1.66;1.66	5.96	5.96	0.96718	.	0.000000	0.41294	U	0.000917	T	0.41604	0.1166	L	0.36672	1.1	0.80722	D	1	D;D;B	0.57571	0.959;0.98;0.302	P;P;B	0.53035	0.716;0.696;0.146	T	0.11916	-1.0568	10	0.62326	D	0.03	-17.9749	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1340;1340;1340	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	1340	ENSP00000446132:T1340I;ENSP00000381007:T1340I;ENSP00000228327:T1340I	ENSP00000228327:T1340I	T	+	2	0	NAV3	77040120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.784000	0.68990	2.814000	0.96858	0.655000	0.94253	ACA		0.517	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	165	0	0	0	0.435327	0	13	165				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			2	4						2	4	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	AA	rs71401156|rs59472818	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:217475031_217475032insAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insAA																													2.37:g.217475040_217475041dupAA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	4						3	4	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102737277	102737283	+	RNA	DEL	TTTCCAT	TTTCCAT	-	rs28381683	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr11:102737277_102737283delTTTCCAT	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CCAATATTTCTTTCCATTGTCTTCACA	0.362														297	0.0593051	0.0045	0.0634	5008	,	,		22103	0.0367		0.1272	False		,,,				2504	0.0838					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102737277_102737283delTTTCCAT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737277_102737283delTTTCCAT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1007	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.362	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	6						4	6	---	---	---	---
LINC00639	283547	broad.mit.edu	37	14	39304293	39304296	+	lincRNA	DEL	CACA	CACA	-	rs5808014|rs370723884|rs3064863|rs552023434|rs59320730|rs368814507	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr14:39304293_39304296delCACA	ENST00000553932.1	-	0	3985									long intergenic non-protein coding RNA 639																		CGCCCTGCTCcacacacacacaca	0.475																																						ENST00000553932.1																			0																																																			0							g.chr14:39304293_39304296delCACA	AK125018, AK127318, BC035119		14q21.1	2012-10-12			ENSG00000259070	ENSG00000259070		"""Long non-coding RNAs"""	27502	non-coding RNA	RNA, long non-coding							Standard	NR_039982		Approved		uc001wun.3		OTTHUMG00000170746		14.37:g.39304301_39304304delCACA														0	3985	-									RNA	DEL	ENST00000553932.1	37																																																																																						0.475	LINC00639-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410191.1	NR_039982		3	3						3	3	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642																																						ENST00000566806.1																			0																																																			0							g.chr16:32095553delG																													16.37:g.32095553delG														0	499	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.642	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			2	4						2	4	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763868	72763869	+	RNA	INS	-	-	A	rs201460117	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr16:72763868_72763869insA	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAAA	0.436																																						ENST00000563328.2																			0																																																			0							g.chr16:72763868_72763869insA																													16.37:g.72763879_72763879dupA														0	164	+									RNA	INS	ENST00000563328.2	37																																																																																						0.436	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			6	5						6	5	---	---	---	---
JUNB	3726	broad.mit.edu	37	19	12903374	12903374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:12903374delG	ENST00000302754.4	+	1	1065	c.789delG	c.(787-789)atgfs	p.M263fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	263					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCATCAACATGGAAGACCAAG	0.706																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(787-789)atfs		jun B proto-oncogene							8.0	9.0	9.0					19																	12903374		2128	4213	6341	SO:0001589	frameshift_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903374delG	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.789delG	19.37:g.12903374delG	ENSP00000303315:p.Met263fs						p.M263fs	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1065	+			263					Q96GH3	Frame_Shift_Del	DEL	ENST00000302754.4	37	c.789delG	CCDS12280.1																																																																																				0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		2	4						2	4	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
