#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
COA1	55744	broad.mit.edu	37	7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	rs371645573		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:43687182C>T	ENST00000395879.1	-	2	1748	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	23					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.G23S(1)									TAGAACACACCGTGGAAAAGG	0.493																																						ENST00000395879.1																			1	Substitution - Missense(1)	p.G23S(1)	prostate(1)								c.(67-69)Ggt>Agt		cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)							73.0	76.0	75.0					7																	43687182		2203	4300	6503	SO:0001583	missense	55744							g.chr7:43687182C>T	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.67G>A	7.37:g.43687182C>T	ENSP00000379218:p.Gly23Ser					COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S	p.G23S							2	1748	-								A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	c.67G>A	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560970	0.03939	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.87	-6.87	0.01671	.	1.318910	0.04939	N	0.458307	T	0.13286	0.0322	N	0.04959	-0.14	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.28586	-1.0039	10	0.18276	T	0.48	-11.6053	11.481	0.50326	0.0957:0.5761:0.0:0.3281	.	23	Q9GZY4	CG044_HUMAN	S	23	ENSP00000379218:G23S;ENSP00000312100:G23S;ENSP00000379219:G23S;ENSP00000223336:G23S;ENSP00000405582:G23S;ENSP00000417046:G23S	ENSP00000223336:G23S	G	-	1	0	C7orf44	43653707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-2.495000	0.00514	-3.352000	0.00042	GGT		0.493	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		5	94	0	0	0	0.021553	0	5	94				
CNTNAP3B	728577	broad.mit.edu	37	9	43818062	43818062	+	Missense_Mutation	SNP	T	T	A	rs62554986	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:43818062T>A	ENST00000377564.3	+	7	1342	c.949T>A	c.(949-951)Tca>Aca	p.S317T	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S317T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	317	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.			LS -> PT (in Ref. 1; BAB14861/BAB70782). {ECO:0000305}.	cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S317T(1)		central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGGAATTCTGTCACCCGGAAG	0.338													N|||	3951	0.788938	0.6377	0.9049	5008	,	,		10970	0.8849		0.8648	False		,,,				2504	0.7342					ENST00000377564.3																			1	Substitution - Missense(1)	p.S317T(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(949-951)Tca>Aca		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43818062T>A	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.949T>A	9.37:g.43818062T>A	ENSP00000366787:p.Ser317Thr					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S317T	p.S317T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			7	1342	+			317	LS -> PT (in Ref. 1; BAB14861/BAB70782).		Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.949T>A	CCDS55312.1	1786|1786	0.8177655677655677|0.8177655677655677	309|309	0.6280487804878049|0.6280487804878049	326|326	0.9005524861878453|0.9005524861878453	514|514	0.8986013986013986|0.8986013986013986	637|637	0.8403693931398417|0.8403693931398417	A|A	0.291|0.291	-0.980010|-0.980010	0.02197|0.02197	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377561|ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	.|T;T	.|0.77620	.|-1.11;-1.11	2.68|2.68	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30995	.|-0.9959	.|6	.|0.19590	.|T	.|0.45	.|.	2.4885|2.4885	0.04604|0.04604	0.2064:0.0:0.3166:0.477|0.2064:0.0:0.3166:0.477	.|.	.|.	.|.	.|.	X|T	365|317	.|ENSP00000366787:S317T;ENSP00000276974:S317T	.|ENSP00000276974:S317T	C|S	+|+	3|1	2|0	CNTNAP3B|CNTNAP3B	43758058|43758058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.434000|0.434000	0.31775|0.31775	0.558000|0.558000	0.23469|0.23469	-0.046000|-0.046000	0.13446|0.13446	-1.746000|-1.746000	0.00682|0.00682	TGT|TCA		0.338	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	37	0	0	0	0.115264	0	3	37				
ABCB6	10058	broad.mit.edu	37	2	220081146	220081146	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:220081146A>G	ENST00000265316.3	-	4	1226	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.W304R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAACAGTCCAGGCCAGAGAG	0.547																																						ENST00000265316.3																			2	Substitution - Missense(2)	p.W304R(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(910-912)Tgg>Cgg		ATP-binding cassette, sub-family B (MDR/TAP), member 6							99.0	108.0	105.0					2																	220081146		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220081146A>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.910T>C	2.37:g.220081146A>G	ENSP00000265316:p.Trp304Arg					ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	p.W304R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1226	-		Renal(207;0.0474)	304			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.910T>C	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720077	0.30503	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94138	-3.36;-2.48	5.17	3.88	0.44766	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.602858	0.17818	N	0.160961	D	0.86657	0.5985	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.005;0.009	T	0.77819	-0.2446	10	0.25106	T	0.35	-3.4059	5.206	0.15291	0.6829:0.15:0.1671:0.0	.	258;304	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	R	304;258	ENSP00000265316:W304R;ENSP00000394333:W258R	ENSP00000265316:W304R	W	-	1	0	ABCB6	219789390	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.785000	0.26830	0.865000	0.35603	0.528000	0.53228	TGG		0.547	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		16	46	0	0	0	0.038395	0	16	46				
C1orf110	339512	broad.mit.edu	37	1	162824943	162824943	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:162824943C>T	ENST00000367910.1	-	4	641	c.521G>A	c.(520-522)gGc>gAc	p.G174D	C1orf110_ENST00000367912.2_Missense_Mutation_p.G173D|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	174								p.G174D(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACAGAGATGCCCTTGCTGGG	0.463																																						ENST00000367912.1																			1	Substitution - Missense(1)	p.G174D(1)	prostate(1)	endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(517-519)gGc>gAc		chromosome 1 open reading frame 110							283.0	270.0	274.0					1																	162824943		1950	4143	6093	SO:0001583	missense	339512							g.chr1:162824943C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.521G>A	1.37:g.162824943C>T	ENSP00000356886:p.Gly174Asp					C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D	p.G173D			Q86UF4	CA110_HUMAN			4	692	-			174					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.518G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939737	0.34189	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	3.98	-0.182	0.13287	.	0.960827	0.08589	N	0.923390	T	0.04861	0.0131	N	0.11560	0.145	0.24087	N	0.995921	B;B	0.15141	0.012;0.012	B;B	0.20577	0.03;0.03	T	0.40001	-0.9586	8	0.15499	T	0.54	-0.0542	2.6827	0.05099	0.209:0.4309:0.0:0.3602	.	173;174	Q86UF4-2;Q86UF4	.;CA110_HUMAN	D	173;169;174	.	ENSP00000356886:G174D	G	-	2	0	C1orf110	161091567	0.000000	0.05858	0.011000	0.14972	0.120000	0.20174	-0.623000	0.05546	0.076000	0.16826	0.655000	0.94253	GGC		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		59	306	0	0	0	0.139131	0	59	306				
PRRG1	5638	broad.mit.edu	37	X	37285150	37285150	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:37285150G>A	ENST00000542554.1	+	4	340	c.68G>A	c.(67-69)gGg>gAg	p.G23E	PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G23E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGCTAATGGGTTTTTTGAA	0.338																																						ENST00000542554.1																			1	Substitution - Missense(1)	p.G23E(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(67-69)gGg>gAg		proline rich Gla (G-carboxyglutamic acid) 1							55.0	54.0	54.0					X																	37285150		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37285150G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.68G>A	X.37:g.37285150G>A	ENSP00000444278:p.Gly23Glu					PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron	p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			4	340	+			23			Gla.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.68G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146931	0.21288	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.18	-1.55	0.08558	Gamma-carboxyglutamic acid-rich (GLA) domain (3);Coagulation factor, subgroup, Gla domain (1);	0.786408	0.12290	N	0.482135	D	0.98118	0.9379	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.15484	0.013	D	0.97628	1.0140	10	0.10111	T	0.7	-1.5605	1.4154	0.02300	0.1602:0.2463:0.3386:0.2549	.	23	O14668	TMG1_HUMAN	E	23	ENSP00000367894:G23E;ENSP00000418384:G23E;ENSP00000444278:G23E;ENSP00000443271:G23E;ENSP00000420353:G23E;ENSP00000390332:G23E;ENSP00000419999:G23E;ENSP00000417050:G23E	ENSP00000367894:G23E	G	+	2	0	RP5-972B16.2;PRRG1	37170071	0.000000	0.05858	0.002000	0.10522	0.774000	0.43823	-0.149000	0.10204	-0.483000	0.06772	-0.225000	0.12378	GGG		0.338	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		4	32	0	0	0	0.009096	0	4	32				
PCSK5	5125	broad.mit.edu	37	9	78790168	78790168	+	Intron	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:78790168G>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.E675K|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatggaatggaatgg	0.388																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2023-2025)Gaa>Aaa		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790168G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+123G>A	9.37:g.78790168G>A						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.E675K			Q92824	PCSK5_HUMAN			14	2535	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2023G>A	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.942|3.942	-0.014077|-0.014077	0.07681|0.07681	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.79940|.	-1.32|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33614|0.33614	0.0869|0.0869	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.34587|.	0.458|.	B|.	0.39152|.	0.292|.	T|T	0.30357|0.30357	-0.9981|-0.9981	7|4	0.52906|0.45353	T|T	0.07|0.12	.|.	4.6597|4.6597	0.12636|0.12636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	675|.	B1AMG5|.	.|.	K|E	675|673	ENSP00000365958:E675K|.	ENSP00000365958:E675K|ENSP00000379415:G673E	E|G	+|+	1|2	0|0	PCSK5|PCSK5	77979988|77979988	0.154000|0.154000	0.22792|0.22792	0.117000|0.117000	0.21633|0.21633	0.118000|0.118000	0.20060|0.20060	0.632000|0.632000	0.24583|0.24583	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	GAA|GGA		0.388	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	16	0	0	0	0.009096	0	3	16				
ANKFN1	162282	broad.mit.edu	37	17	54555011	54555011	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr17:54555011T>C	ENST00000318698.2	+	15	1980	c.1945T>C	c.(1945-1947)Tct>Cct	p.S649P	ANKFN1_ENST00000566473.2_Missense_Mutation_p.S649P	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	649										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAATAATATTTCTAGGTAAGT	0.418																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1945-1947)Tct>Cct		ankyrin-repeat and fibronectin type III domain containing 1							115.0	115.0	115.0					17																	54555011		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54555011T>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1945T>C	17.37:g.54555011T>C	ENSP00000321627:p.Ser649Pro					ANKFN1_ENST00000318698.2_Missense_Mutation_p.S649P	p.S649P			Q8N957	ANKF1_HUMAN			15	1945	+			649						Missense_Mutation	SNP	ENST00000318698.2	37	c.1945T>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782335	0.90282	.	.	ENSG00000153930	ENST00000318698	T	0.39592	1.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72323	-0.4328	10	0.87932	D	0	-9.5959	16.1982	0.82046	0.0:0.0:0.0:1.0	.	649	Q8N957	ANKF1_HUMAN	P	649	ENSP00000321627:S649P	ENSP00000321627:S649P	S	+	1	0	ANKFN1	51910010	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.226000	0.72624	0.533000	0.62120	TCT		0.418	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		3	104	0	0	0	0.009096	0	3	104				
LRRC57	255252	broad.mit.edu	37	15	42839684	42839684	+	Silent	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:42839684C>A	ENST00000323443.2	-	3	634	c.267G>T	c.(265-267)acG>acT	p.T89T	LRRC57_ENST00000397130.3_Silent_p.T89T|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Silent_p.T89T|HAUS2_ENST00000568846.2_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	89						extracellular vesicular exosome (GO:0070062)		p.T89T(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTAGGCTTAGCGTCTCTAGTT	0.438																																						ENST00000323443.2																			1	Substitution - coding silent(1)	p.T89T(1)	prostate(1)	breast(1)|kidney(1)|lung(5)|prostate(1)	8						c.(265-267)acG>acT		leucine rich repeat containing 57							90.0	86.0	87.0					15																	42839684		2203	4299	6502	SO:0001819	synonymous_variant	255252							g.chr15:42839684C>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.267G>T	15.37:g.42839684C>A						LRRC57_ENST00000563454.1_Silent_p.T89T|LRRC57_ENST00000397130.3_Silent_p.T89T	p.T89T			Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	3	634	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	89					Q7Z2Z6|Q8N1T6	Silent	SNP	ENST00000323443.2	37	c.267G>T	CCDS10089.1																																																																																				0.438	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		14	95	1	0	0.000219431	0.119110	0.000242529	14	95				
ZFYVE26	23503	broad.mit.edu	37	14	68220896	68220896	+	Silent	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220896C>A	ENST00000347230.4	-	38	7158	c.7020G>T	c.(7018-7020)gtG>gtT	p.V2340V	ZFYVE26_ENST00000557306.1_Silent_p.V186V|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2340					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V2340V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAACCTGGTCACTTCCATCT	0.522																																						ENST00000347230.4																			1	Substitution - coding silent(1)	p.V2340V(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7018-7020)gtG>gtT		zinc finger, FYVE domain containing 26							168.0	163.0	165.0					14																	68220896		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68220896C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7020G>T	14.37:g.68220896C>A						ZFYVE26_ENST00000557306.1_Silent_p.V186V	p.V2340V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	38	7158	-			2340					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.7020G>T	CCDS9788.1																																																																																				0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		26	187	1	0	2.79863e-10	0.099896	3.39065e-10	26	187				
GRM7	2917	broad.mit.edu	37	3	7721859	7721859	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr3:7721859C>T	ENST00000357716.4	+	9	2849	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W|GRM7_ENST00000486284.1_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	859					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R859W(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGTCCAGAAACGGAAGCGAAG	0.512																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.R859W(1)	prostate(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2575-2577)Cgg>Tgg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						98.0	82.0	87.0					3																	7721859		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721859C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2575C>T	3.37:g.7721859C>T	ENSP00000350348:p.Arg859Trp					GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W|GRM7_ENST00000357716.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W	p.R859W	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			9	2849	+			859					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2575C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315363	0.60524	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.90069	-2.57;-2.61;-2.6;-2.6;-2.61	5.17	3.09	0.35607	GPCR, family 3, C-terminal (1);	0.112900	0.64402	D	0.000020	D	0.92977	0.7765	M	0.71206	2.165	0.51767	D	0.999934	D;D;D;P	0.89917	1.0;1.0;1.0;0.615	D;D;D;B	0.80764	0.994;0.973;0.985;0.17	D	0.92647	0.6129	10	0.45353	T	0.12	.	13.7227	0.62737	0.3281:0.6719:0.0:0.0	.	859;614;859;859	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	W	859	ENSP00000350348:R859W;ENSP00000417536:R859W;ENSP00000373987:R859W;ENSP00000385664:R859W;ENSP00000384585:R859W	ENSP00000350348:R859W	R	+	1	2	GRM7	7696859	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.494000	0.22467	1.316000	0.45131	-0.203000	0.12734	CGG		0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	89	0	0	0	0.014758	0	4	89				
PRSS48	345062	broad.mit.edu	37	4	152201037	152201037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:152201037G>A	ENST00000455694.2	+	2	144	c.142G>A	c.(142-144)Gac>Aac	p.D48N	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D60N(1)|p.D48N(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCTACACTTTGACCACAACTT	0.542																																						ENST00000455694.2																			2	Substitution - Missense(2)	p.D60N(1)|p.D48N(1)	prostate(2)	kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(142-144)Gac>Aac		protease, serine, 48							135.0	127.0	130.0					4																	152201037		1994	4171	6165	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152201037G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.142G>A	4.37:g.152201037G>A	ENSP00000401328:p.Asp48Asn					PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	p.D48N	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			2	144	+			48			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.142G>A	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	g	1.793	-0.478971	0.04414	.	.	ENSG00000189099	ENST00000455694	D	0.88277	-2.36	5.2	-3.51	0.04696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.477710	0.04978	N	0.465072	T	0.69975	0.3171	N	0.04148	-0.265	0.19300	N	0.99998	B	0.06786	0.001	B	0.09377	0.004	T	0.57985	-0.7716	10	0.18710	T	0.47	.	1.4325	0.02336	0.1828:0.3475:0.1469:0.3228	.	48	Q7RTY5	PRS48_HUMAN	N	48	ENSP00000401328:D48N	ENSP00000401328:D48N	D	+	1	0	PRSS48	152420487	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.840000	0.04363	-0.652000	0.05408	-0.219000	0.12488	GAC		0.542	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		22	153	0	0	0	0.062417	0	22	153				
MORF4L2	9643	broad.mit.edu	37	X	102931652	102931652	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:102931652T>C	ENST00000441076.2	-	4	608	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	MORF4L2_ENST00000423833.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R102G	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	102					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCGGGCCCTTTTCTTCCGA	0.498																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(304-306)Agg>Ggg		mortality factor 4 like 2							67.0	74.0	72.0					X																	102931652		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931652T>C	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.304A>G	X.37:g.102931652T>C	ENSP00000391969:p.Arg102Gly					MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000441076.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R102G	p.R102G			Q15014	MO4L2_HUMAN			3	1529	-			102					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.304A>G	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063447	0.55432	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.75447	2.3	0.51767	D	0.999939	D	0.56035	0.974	P	0.60012	0.867	T	0.00899	-1.1522	10	0.45353	T	0.12	-15.8345	7.4528	0.27248	0.0:0.0:0.2176:0.7824	.	102	Q15014	MO4L2_HUMAN	G	102;102;102;102;84;102;102;102;102;102	ENSP00000353643:R102G;ENSP00000415476:R102G;ENSP00000394417:R102G;ENSP00000410532:R102G;ENSP00000391969:R102G;ENSP00000416120:R102G;ENSP00000413664:R102G;ENSP00000393283:R102G;ENSP00000400938:R102G	ENSP00000353643:R102G	R	-	1	2	MORF4L2	102818308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.265000	0.51561	2.011000	0.59026	0.486000	0.48141	AGG		0.498	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		3	99	0	0	0	0.115264	0	3	99				
OBSCN	84033	broad.mit.edu	37	1	228509861	228509861	+	Missense_Mutation	SNP	C	C	T	rs201233499		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:228509861C>T	ENST00000422127.1	+	55	15363	c.15319C>T	c.(15319-15321)Cct>Tct	p.P5107S	OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000570156.2_Missense_Mutation_p.P6064S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5107					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P5689S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAAGAGACTCCTGCCCCTGT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			1	Substitution - Missense(1)	p.P5689S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18190-18192)Cct>Tct		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	SER/PRO,SER/PRO	7,4123		0,7,2058	45.0	52.0	50.0		15319,15319	1.6	0.1	1		50	0,8434		0,0,4217	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	74,74	0,7,6275	TT,TC,CC		0.0,0.1695,0.0557	benign,benign	5107/7969,5107/6621	228509861	7,12557	2065	4217	6282	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509861C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15319C>T	1.37:g.228509861C>T	ENSP00000409493:p.Pro5107Ser					OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S	p.P6064S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	18264	+		Prostate(94;0.0405)	5107			Ig-like 52.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18190C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678766	0.14841	0.001695	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.63913	0.37;-0.02;-0.07;0.45	4.75	1.63	0.23807	.	0.688080	0.13952	N	0.351427	T	0.43612	0.1255	L	0.29908	0.895	0.09310	N	1	B;B	0.32753	0.264;0.383	B;B	0.28849	0.044;0.095	T	0.21999	-1.0229	10	0.36615	T	0.2	.	6.3444	0.21341	0.0:0.5653:0.2754:0.1593	.	5107;5107	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	5107;5107;2741;2226	ENSP00000284548:P5107S;ENSP00000409493:P5107S;ENSP00000355668:P2741S;ENSP00000355670:P2226S	ENSP00000284548:P5107S	P	+	1	0	OBSCN	226576484	0.003000	0.15002	0.079000	0.20413	0.003000	0.03518	0.971000	0.29396	0.438000	0.26450	-0.145000	0.13849	CCT		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	37	0	0	0	0.009096	0	4	37				
NBEA	26960	broad.mit.edu	37	13	35733542	35733542	+	Silent	SNP	G	G	A	rs182518188	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr13:35733542G>A	ENST00000400445.3	+	22	3768	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	NBEA_ENST00000540320.1_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1078					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTATCACCGGAGACTTTAG	0.403													G|||	3	0.000599042	0.0	0.0029	5008	,	,		8257	0.0		0.001	False		,,,				2504	0.0					ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3232-3234)ccG>ccA		neurobeachin		G		1,3749		0,1,1874	124.0	119.0	120.0		3234	-5.2	1.0	13		120	3,8211		0,3,4104	no	coding-synonymous	NBEA	NM_015678.4		0,4,5978	AA,AG,GG		0.0365,0.0267,0.0334		1078/2947	35733542	4,11960	1875	4107	5982	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733542G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3234G>A	13.37:g.35733542G>A						NBEA_ENST00000400445.3_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P	p.P1078P			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3768	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1078					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.3234G>A	CCDS45026.1																																																																																				0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	63	0	0	0	0.009096	0	3	63				
ABCA13	154664	broad.mit.edu	37	7	48443343	48443343	+	Silent	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:48443343C>A	ENST00000435803.1	+	39	11961	c.11937C>A	c.(11935-11937)ggC>ggA	p.G3979G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3979	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G3979G(2)|p.G3924G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGAGGCCTGAAGAGGA	0.527																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.G3979G(2)|p.G3924G(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11935-11937)ggC>ggA		ATP-binding cassette, sub-family A (ABC1), member 13							107.0	107.0	107.0					7																	48443343		1969	4151	6120	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443343C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11937C>A	7.37:g.48443343C>A							p.G3979G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			39	11961	+			3979			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11937C>A	CCDS47584.1																																																																																				0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	42	1	0	1.58986e-06	0.069234	1.85484e-06	10	42				
OR6K6	128371	broad.mit.edu	37	1	158725008	158725008	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:158725008C>A	ENST00000368144.2	+	1	499	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACTCACTTGGTATCAC	0.493																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(403-405)Ctt>Att		olfactory receptor, family 6, subfamily K, member 6							77.0	74.0	75.0					1																	158725008		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725008C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.403C>A	1.37:g.158725008C>A	ENSP00000357126:p.Leu135Ile						p.L135I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	499	+	all_hematologic(112;0.0378)		135					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.403C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410628	0.25465	.	.	ENSG00000180433	ENST00000368144	T	0.03496	3.91	5.48	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	N	0.002307	T	0.02688	0.0081	M	0.80422	2.495	0.09310	N	1	P	0.39964	0.697	B	0.38500	0.275	T	0.26643	-1.0097	10	0.66056	D	0.02	-13.2547	8.9857	0.35992	0.0:0.7695:0.0:0.2305	.	135	Q8NGW6	OR6K6_HUMAN	I	135	ENSP00000357126:L135I	ENSP00000357126:L135I	L	+	1	0	OR6K6	156991632	0.000000	0.05858	0.128000	0.21923	0.771000	0.43674	-0.376000	0.07465	0.856000	0.35383	0.655000	0.94253	CTT		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		4	85	1	0	3.41278e-10	0.033300	4.0567e-10	4	85				
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CHERP_ENST00000546361.2_Silent_p.Q336Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					ENST00000546361.2																			2	Substitution - coding silent(2)	p.Q336Q(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1006-1008)caA>caG		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	p.Q336Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1159	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	50	0	0	0	0.115264	0	3	50				
KRTAP9-3	83900	broad.mit.edu	37	17	39388891	39388891	+	Silent	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr17:39388891C>T	ENST00000411528.2	+	1	177	c.138C>T	c.(136-138)tgC>tgT	p.C46C		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	46	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)		p.C46C(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCAGCCTTGCTGCCACCCAA	0.622																																						ENST00000411528.2																			1	Substitution - coding silent(1)	p.C46C(1)	prostate(1)	breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(136-138)tgC>tgT		keratin associated protein 9-3							61.0	64.0	63.0					17																	39388891		2099	4296	6395	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39388891C>T	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.138C>T	17.37:g.39388891C>T							p.C46C	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	177	+		Breast(137;0.000496)	46			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.138C>T	CCDS11385.1																																																																																				0.622	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			14	93	0	0	0	0.105934	0	14	93				
CYP1A1	1543	broad.mit.edu	37	15	75013056	75013056	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:75013056G>A	ENST00000379727.3	-	7	1511	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.A438V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CTTGTCGATAGCACCATCAGG	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			1	Substitution - Missense(1)	p.A438V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1312-1314)gCt>gTt		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						145.0	141.0	142.0					15																	75013056		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013056G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1313C>T	15.37:g.75013056G>A	ENSP00000369050:p.Ala438Val					CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V	p.A438V			P04798	CP1A1_HUMAN			7	1511	-			438					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1313C>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702819	0.15172	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.79554	-1.28;-1.28;-1.28	5.46	1.22	0.21188	.	0.311240	0.38605	N	0.001630	T	0.63768	0.2539	N	0.16743	0.435	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.55623	-0.8112	10	0.72032	D	0.01	.	7.7811	0.29066	0.1438:0.2444:0.6118:0.0	.	409;438	E7EMT5;P04798	.;CP1A1_HUMAN	V	438;438;409;410	ENSP00000369050:A438V;ENSP00000378488:A438V;ENSP00000378489:A409V	ENSP00000268062:A410V	A	-	2	0	CYP1A1	72800109	0.940000	0.31905	0.002000	0.10522	0.002000	0.02628	1.682000	0.37628	-0.020000	0.14032	-1.266000	0.01441	GCT		0.522	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		36	157	0	0	0	0.098360	0	36	157				
AP3B2	8120	broad.mit.edu	37	15	83349301	83349301	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:83349301C>G	ENST00000261722.3	-	8	1185	c.978G>C	c.(976-978)caG>caC	p.Q326H	AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	326					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q326H(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGTAGAGCTGCGCCACCG	0.706																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.Q326H(2)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(976-978)caG>caC		adaptor-related protein complex 3, beta 2 subunit							4.0	5.0	5.0					15																	83349301		1677	3712	5389	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349301C>G	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.978G>C	15.37:g.83349301C>G	ENSP00000261722:p.Gln326His					AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H	p.Q326H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	1185	-			326					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.978G>C	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464110	0.84425	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.27256	1.68;1.68;1.68	4.76	4.76	0.60689	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.104988	0.64402	D	0.000002	T	0.53642	0.1809	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.81914	0.995;0.993;0.976	T	0.60219	-0.7306	10	0.72032	D	0.01	-19.6242	8.1815	0.31313	0.0:0.7811:0.0:0.2189	.	294;326;326	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	326;294;326	ENSP00000261722:Q326H;ENSP00000438721:Q294H;ENSP00000440984:Q326H	ENSP00000261722:Q326H	Q	-	3	2	AP3B2	81146355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.239000	0.32719	2.472000	0.83506	0.561000	0.74099	CAG		0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	15	0	0	0	0.115264	0	3	15				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	59	0	0	0	0.115264	0	3	59				
FAM69B	138311	broad.mit.edu	37	9	139617909	139617909	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:139617909C>T	ENST00000371692.4	+	5	1075	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.R240C|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	327						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R327C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCGTGCGCCGCTTCCTGCA	0.667																																						ENST00000371691.1																			1	Substitution - Missense(1)	p.R327C(1)	prostate(1)	NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(718-720)Cgc>Tgc		family with sequence similarity 69, member B							19.0	19.0	19.0					9																	139617909		2200	4296	6496	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617909C>T		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.979C>T	9.37:g.139617909C>T	ENSP00000360757:p.Arg327Cys					FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C|SNHG7_ENST00000414282.1_RNA	p.R240C			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1817	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	327					Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.718C>T	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682754	0.88542	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.48522	0.81;0.82	5.29	2.25	0.28309	.	0.335739	0.33253	N	0.005109	T	0.52964	0.1767	L	0.59436	1.845	0.40621	D	0.981769	D	0.76494	0.999	P	0.57679	0.825	T	0.55373	-0.8151	10	0.59425	D	0.04	-46.6412	6.976	0.24674	0.2552:0.4197:0.325:0.0	.	327	Q5VUD6	FA69B_HUMAN	C	327;240	ENSP00000360757:R327C;ENSP00000360756:R240C	ENSP00000360756:R240C	R	+	1	0	FAM69B	138737730	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	3.514000	0.53422	1.199000	0.43173	0.561000	0.74099	CGC		0.667	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		5	31	0	0	0	0.014758	0	5	31				
SGK223	157285	broad.mit.edu	37	8	8238940	8238940	+	Silent	SNP	G	G	C	rs370861925		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr8:8238940G>C	ENST00000520004.1	-	2	582	c.318C>G	c.(316-318)gcC>gcG	p.A106A	SGK223_ENST00000330777.4_Silent_p.A106A			Q86YV5	SG223_HUMAN		106							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.A106A(5)									GCGAGACTTCGGCACTCAGGT	0.562																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			5	Substitution - coding silent(5)	p.A106A(5)	prostate(3)|kidney(2)								c.(316-318)gcC>gcG									83.0	81.0	82.0					8																	8238940		1996	4161	6157	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8238940G>C																												ENST00000520004.1:c.318C>G	8.37:g.8238940G>C						SGK223_ENST00000330777.4_Silent_p.A106A	p.A106A			Q86YV5	SG223_HUMAN			2	582	-			106					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.318C>G	CCDS43706.1																																																																																				0.562	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			14	75	0	0	0	0.119110	0	14	75				
HDAC8	55869	broad.mit.edu	37	X	71708813	71708813	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:71708813T>C	ENST00000373573.3	-	7	1048	c.707A>G	c.(706-708)cAa>cGa	p.Q236R	HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000439122.2_Missense_Mutation_p.Q236R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R|HDAC8_ENST00000478743.1_5'Flank|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	236	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTTTTCATCTTGTATGCCATC	0.438																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(706-708)cAa>cGa		histone deacetylase 8	Vorinostat(DB02546)						192.0	139.0	157.0					X																	71708813		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71708813T>C	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.707A>G	X.37:g.71708813T>C	ENSP00000362674:p.Gln236Arg					HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R|HDAC8_ENST00000373573.3_Missense_Mutation_p.Q236R|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R	p.Q236R	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			7	993	-	Renal(35;0.156)		236			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.707A>G	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108318	0.37242	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373559;ENST00000373561	T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.99	3.82	0.43975	Histone deacetylase domain (2);	0.224620	0.46758	N	0.000268	T	0.47637	0.1456	N	0.04746	-0.17	0.39116	D	0.961568	B;B;B;B;B	0.12013	0.005;0.001;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.002;0.001	T	0.44892	-0.9298	10	0.87932	D	0	-5.6535	8.1804	0.31307	0.0:0.0995:0.0:0.9005	.	145;145;145;236;236	B4DH31;B4DKN0;A6NGJ7;B4DV22;Q9BY41	.;.;.;.;HDAC8_HUMAN	R	236;145;41;145;210;236;236;119;236	ENSP00000362674:Q236R;ENSP00000362691:Q145R;ENSP00000388459:Q41R;ENSP00000362669:Q145R;ENSP00000396424:Q210R;ENSP00000362672:Q236R;ENSP00000414486:Q236R;ENSP00000362660:Q119R;ENSP00000362662:Q236R	ENSP00000362660:Q119R	Q	-	2	0	HDAC8	71625538	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.477000	0.35431	0.788000	0.33755	0.486000	0.48141	CAA		0.438	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		3	68	0	0	0	0.115264	0	3	68				
FAM166A	401565	broad.mit.edu	37	9	140140297	140140297	+	Missense_Mutation	SNP	C	C	T	rs571101141		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:140140297C>T	ENST00000344774.4	-	2	119	c.65G>A	c.(64-66)gGc>gAc	p.G22D	FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	22						nucleus (GO:0005634)		p.G22D(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGAAAGAAGCCGGCATAGCT	0.632																																						ENST00000344774.4																			1	Substitution - Missense(1)	p.G22D(1)	prostate(1)	kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(64-66)gGc>gAc		family with sequence similarity 166, member A							26.0	27.0	26.0					9																	140140297		2202	4298	6500	SO:0001583	missense	401565							g.chr9:140140297C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.65G>A	9.37:g.140140297C>T	ENSP00000344729:p.Gly22Asp					FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			2	119	-			22					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.65G>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370412	0.61624	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.75154	-0.91;-0.91;-0.91	5.1	4.19	0.49359	.	0.000000	0.64402	D	0.000001	D	0.84243	0.5429	M	0.85197	2.74	0.80722	D	1	D	0.55385	0.971	P	0.59546	0.859	D	0.86637	0.1889	10	0.87932	D	0	-32.3692	11.7137	0.51639	0.0:0.9126:0.0:0.0874	.	22	Q6J272	F166A_HUMAN	D	22	ENSP00000344729:G22D;ENSP00000373584:G22D;ENSP00000420741:G22D	ENSP00000344729:G22D	G	-	2	0	FAM166A	139260118	1.000000	0.71417	0.996000	0.52242	0.455000	0.32408	3.214000	0.51161	2.362000	0.80069	0.462000	0.41574	GGC		0.632	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		3	43	0	0	0	0.115264	0	3	43				
KLC2	64837	broad.mit.edu	37	11	66026227	66026227	+	Silent	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:66026227G>T	ENST00000417856.1	+	2	405	c.162G>T	c.(160-162)tcG>tcT	p.S54S	KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_Silent_p.S54S|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.S54S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCTGGCTCGCAGGAGCGCT	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000417856.1																			1	Substitution - coding silent(1)	p.S54S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(160-162)tcG>tcT		kinesin light chain 2							32.0	35.0	34.0					11																	66026227		2198	4294	6492	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66026227G>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.162G>T	11.37:g.66026227G>T			OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S	p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN			2	405	+			54					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.162G>T	CCDS8130.1																																																																																				0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		5	61	1	0	0.00198382	0.029380	0.00211831	5	61				
GPR115	221393	broad.mit.edu	37	6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	rs146828294		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:47682279C>T	ENST00000283303.2	+	6	1556	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	433					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTGTGACGGAGATATCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		22187	0.001		0.0	False		,,,				2504	0.0				GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1297-1299)aCg>aTg		G protein-coupled receptor 115		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	204.0	180.0	188.0		1298	5.4	0.3	6	dbSNP_134	188	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	433/696	47682279	1,13005	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682279C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1298C>T	6.37:g.47682279C>T	ENSP00000283303:p.Thr433Met					GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M	p.T433M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1556	+			433					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1298C>T	CCDS4922.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.58	2.280783	0.40294	2.27E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.44083	0.93;0.93;0.93	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.83953	2.67	0.37310	D	0.909073	D	0.89917	1.0	D	0.91635	0.999	T	0.69273	-0.5188	10	0.72032	D	0.01	-13.8722	18.6292	0.91354	0.0:1.0:0.0:0.0	.	433	Q8IZF3	GP115_HUMAN	M	490;433;433	ENSP00000360264:T490M;ENSP00000328319:T433M;ENSP00000283303:T433M	ENSP00000283303:T433M	T	+	2	0	GPR115	47790238	0.985000	0.35326	0.275000	0.24674	0.107000	0.19398	2.720000	0.47252	2.721000	0.93114	0.655000	0.94253	ACG		0.478	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		6	186	0	0	0	0.038147	0	6	186				
SPRR2F	6705	broad.mit.edu	37	1	153085079	153085079	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:153085079G>A	ENST00000468739.1	-	2	191	c.131C>T	c.(130-132)tCc>tTc	p.S44F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	44	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.S44F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGACTGTGGACA	0.617																																						ENST00000468739.1																			1	Substitution - Missense(1)	p.S44F(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(130-132)tCc>tTc		small proline-rich protein 2F							239.0	211.0	220.0					1																	153085079		2203	4300	6503	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085079G>A	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.131C>T	1.37:g.153085079G>A	ENSP00000418193:p.Ser44Phe					SPRR2B_ENST00000368752.4_Intron	p.S44F	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	191	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		44			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.		Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.131C>T	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039898	0.02013	.	.	ENSG00000244094	ENST00000468739	T	0.30981	1.51	3.44	0.369	0.16151	.	0.496849	0.15130	N	0.278880	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.31833	-0.9929	9	0.87932	D	0	.	2.9584	0.05884	0.2454:0.0:0.541:0.2136	.	44	Q96RM1	SPR2F_HUMAN	F	44	ENSP00000418193:S44F	ENSP00000418193:S44F	S	-	2	0	SPRR2F	151351703	0.541000	0.26417	0.000000	0.03702	0.024000	0.10985	0.405000	0.21015	-0.118000	0.11851	0.306000	0.20318	TCC		0.617	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			54	313	0	0	0	0.139131	0	54	313				
IFNA13	3447	broad.mit.edu	37	9	21367472	21367472	+	Missense_Mutation	SNP	T	T	C	rs373918648		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:21367472T>C	ENST00000449498.1	-	1	603	c.538A>G	c.(538-540)Aca>Gca	p.T180A		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	179					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.T180A(1)|p.T179A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TGCAAGTTTGTTGATAAAGAG	0.408																																						ENST00000449498.1																			2	Substitution - Missense(2)	p.T180A(1)|p.T179A(1)	prostate(2)	breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9						c.(538-540)Aca>Gca		interferon, alpha 13							141.0	135.0	137.0					9																	21367472		2203	4300	6503	SO:0001583	missense	3447				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21367472T>C		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.538A>G	9.37:g.21367472T>C	ENSP00000394494:p.Thr180Ala						p.T180A	NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	603	-			179					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	c.538A>G	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	T	7.514	0.655222	0.14580	.	.	ENSG00000233816	ENST00000449498	T	0.03386	3.95	2.46	-3.13	0.05266	.	1.261530	0.05343	N	0.530527	T	0.04724	0.0128	L	0.50847	1.595	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44314	-0.9336	10	0.35671	T	0.21	.	8.2879	0.31939	0.0:0.5606:0.0:0.4394	.	180	E9PB07	.	A	180	ENSP00000394494:T180A	ENSP00000394494:T180A	T	-	1	0	IFNA13	21357472	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.277000	0.08502	-0.796000	0.04456	0.260000	0.18958	ACA		0.408	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		30	155	0	0	0	0.117977	0	30	155				
RASAL2	9462	broad.mit.edu	37	1	178269157	178269157	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:178269157A>G	ENST00000367649.3	+	3	713	c.361A>G	c.(361-363)Aca>Gca	p.T121A	RASAL2_ENST00000448150.3_Missense_Mutation_p.T103A|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.T121A(1)|p.T103A(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAGCAGCAGACAGATTCCAC	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448150.3																			2	Substitution - Missense(2)	p.T121A(1)|p.T103A(1)	prostate(2)	biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(307-309)Aca>Gca		RAS protein activator like 2							74.0	79.0	77.0					1																	178269157		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178269157A>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.361A>G	1.37:g.178269157A>G	ENSP00000356621:p.Thr121Ala		OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A	p.T103A	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			3	1125	+			0			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	37	c.307A>G	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	A	9.256	1.042012	0.19748	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.31247	1.5;1.5	5.37	-7.87	0.01183	.	0.662263	0.14327	N	0.326628	T	0.10937	0.0267	N	0.17082	0.46	0.24157	N	0.995673	B	0.02656	0.0	B	0.01281	0.0	T	0.14643	-1.0465	10	0.20519	T	0.43	.	3.5413	0.07812	0.3208:0.204:0.3758:0.0993	.	121	F8W755	.	A	103;121	ENSP00000407768:T103A;ENSP00000356621:T121A	ENSP00000356621:T121A	T	+	1	0	RASAL2	176535780	0.035000	0.19736	0.124000	0.21820	0.562000	0.35680	-0.365000	0.07573	-1.797000	0.01252	-1.219000	0.01604	ACA		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		10	66	0	0	0	0.080935	0	10	66				
GLDN	342035	broad.mit.edu	37	15	51676022	51676022	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51676022G>A	ENST00000335449.6	+	4	530	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_ENST00000396399.2_Silent_p.L34L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	158	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L158L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433																																						ENST00000335449.6																			1	Substitution - coding silent(1)	p.L158L(1)	prostate(1)	central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(472-474)ttG>ttA		gliomedin							40.0	43.0	42.0					15																	51676022		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51676022G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.474G>A	15.37:g.51676022G>A						GLDN_ENST00000396399.2_Silent_p.L34L	p.L158L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	4	530	+			158			Collagen-like 1.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.474G>A	CCDS10140.2																																																																																				0.433	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		9	44	0	0	0	0.080935	0	9	44				
GPR98	84059	broad.mit.edu	37	5	90106488	90106488	+	Silent	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:90106488C>T	ENST00000405460.2	+	74	15507	c.15411C>T	c.(15409-15411)ttC>ttT	p.F5137F	GPR98_ENST00000425867.2_Silent_p.F798F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5137					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F5137F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTCCCCGAGACAA	0.443																																						ENST00000405460.2																			1	Substitution - coding silent(1)	p.F5137F(1)	prostate(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15409-15411)ttC>ttT		G protein-coupled receptor 98							173.0	171.0	172.0					5																	90106488		1957	4154	6111	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106488C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15411C>T	5.37:g.90106488C>T						GPR98_ENST00000425867.2_Silent_p.F798F	p.F5137F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15507	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5137					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15411C>T	CCDS47246.1																																																																																				0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		48	300	0	0	0	0.139131	0	48	300				
DMXL2	23312	broad.mit.edu	37	15	51795002	51795002	+	Splice_Site	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51795002C>T	ENST00000251076.5	-	17	3280		c.e17+1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTGACCTTACCTGCTGAAGG	0.393																																						ENST00000251076.5																			1	Unknown(1)	p.?(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e17+1		Dmx-like 2							92.0	89.0	90.0					15																	51795002		2195	4293	6488	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51795002C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2992+1G>A	15.37:g.51795002C>T						DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Intron		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3280	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590882	0.86851	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9502	0.92638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49582294	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.234000	0.78134	2.459000	0.83118	0.644000	0.83932	.		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	12	74	0	0	0	0.105934	0	12	74				
NRP2	8828	broad.mit.edu	37	2	206562286	206562286	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:206562286G>A	ENST00000357785.5	+	2	123	c.92G>A	c.(91-93)cGt>cAt	p.R31H	NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000360409.3_Missense_Mutation_p.R31H|NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R31H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCGGAGGTCGTTTGAATTCC	0.517																																						ENST00000360409.3																			2	Substitution - Missense(2)	p.R31H(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(91-93)cGt>cAt		neuropilin 2							306.0	292.0	296.0					2																	206562286		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562286G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.92G>A	2.37:g.206562286G>A	ENSP00000350432:p.Arg31His					NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H	p.R31H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			2	883	+			31			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.92G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407480	0.25378	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.37	3.58	0.41010	CUB (5);	0.396529	0.31268	N	0.007945	T	0.20577	0.0495	N	0.03050	-0.425	0.37990	D	0.933888	B;B;D;B;B;B	0.76494	0.022;0.04;0.999;0.265;0.265;0.05	B;B;D;B;B;B	0.76071	0.007;0.007;0.987;0.022;0.022;0.004	T	0.31779	-0.9931	10	0.40728	T	0.16	-8.3327	11.8798	0.52568	0.142:0.0:0.858:0.0	.	31;31;31;31;31;31	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	H	31	ENSP00000353582:R31H;ENSP00000439658:R31H;ENSP00000439261:R31H;ENSP00000347238:R31H;ENSP00000404279:R31H;ENSP00000387519:R31H;ENSP00000349632:R31H;ENSP00000350432:R31H;ENSP00000407626:R31H;ENSP00000272849:R31H	ENSP00000272849:R31H	R	+	2	0	NRP2	206270531	0.120000	0.22244	0.888000	0.34837	0.882000	0.50991	2.630000	0.46494	0.640000	0.30582	-0.136000	0.14681	CGT		0.517	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			24	462	0	0	0	0.116897	0	24	462				
MID1IP1	58526	broad.mit.edu	37	X	38664272	38664272	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:38664272G>A	ENST00000336949.6	+	2	1018	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M|MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	25					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.V25M(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CATTGGCGCCGTGAACAACAT	0.607																																						ENST00000336949.6																			1	Substitution - Missense(1)	p.V25M(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(73-75)Gtg>Atg		MID1 interacting protein 1							109.0	73.0	85.0					X																	38664272		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664272G>A		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.73G>A	X.37:g.38664272G>A	ENSP00000338706:p.Val25Met					MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M|MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M	p.V25M	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	1018	+			25					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.73G>A	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493088	0.64186	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.157146	0.40818	N	0.001008	T	0.78426	0.4281	M	0.80616	2.505	0.47737	D	0.999502	D	0.89917	1.0	D	0.77004	0.989	T	0.81660	-0.0832	9	0.87932	D	0	-7.7472	12.4551	0.55700	0.0:0.0:0.8322:0.1678	.	25	Q9NPA3	M1IP1_HUMAN	M	25	.	ENSP00000338706:V25M	V	+	1	0	MID1IP1	38549216	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.054000	0.93866	2.116000	0.64780	0.529000	0.55759	GTG		0.607	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			3	29	0	0	0	0.115264	0	3	29				
INHBA	3624	broad.mit.edu	37	7	41739857	41739857	+	Missense_Mutation	SNP	G	G	A	rs373520349		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:41739857G>A	ENST00000242208.4	-	2	362	c.116C>T	c.(115-117)gCg>gTg	p.A39V	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	39					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.A39V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCGGCCAGCGCACAGGACGG	0.577										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.A39V(1)	prostate(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(115-117)gCg>gTg		inhibin, beta A							145.0	163.0	157.0					7																	41739857		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739857G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.116C>T	7.37:g.41739857G>A	ENSP00000242208:p.Ala39Val	TSP Lung(11;0.080)				INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V	p.A39V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	362	-			39					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.116C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046126	0.93740	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.79247	-1.25;-1.25	5.36	5.36	0.76844	.	3.538020	0.01120	N	0.005762	D	0.88636	0.6490	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.74006	-0.3803	10	0.33141	T	0.24	-19.2049	19.0952	0.93248	0.0:0.0:1.0:0.0	.	39	P08476	INHBA_HUMAN	V	39	ENSP00000242208:A39V;ENSP00000397197:A39V	ENSP00000242208:A39V	A	-	2	0	INHBA	41706382	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.623000	0.54224	2.507000	0.84556	0.563000	0.77884	GCG		0.577	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			57	374	0	0	0	0.139131	0	57	374				
NCKAP5L	57701	broad.mit.edu	37	12	50186731	50186731	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:50186731C>T	ENST00000335999.6	-	11	3580	c.3379G>A	c.(3379-3381)Ggg>Agg	p.G1127R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1123	Pro-rich.							p.G1127R(1)|p.G718R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGAAGGTCCCAATGCCACTG	0.652																																						ENST00000335999.6																			2	Substitution - Missense(2)	p.G1127R(1)|p.G718R(1)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(3379-3381)Ggg>Agg		NCK-associated protein 5-like							12.0	13.0	13.0					12																	50186731		1936	4036	5972	SO:0001583	missense	57701							g.chr12:50186731C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3379G>A	12.37:g.50186731C>T	ENSP00000337998:p.Gly1127Arg						p.G1127R	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			11	3580	-			1123			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.3379G>A	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.373726|4.373726	0.82573|0.82573	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.75154|.	-0.91|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.000000|.	0.42964|.	D|.	0.000629|.	T|.	0.63367|.	0.2505|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;0.998|.	T|.	0.61763|.	-0.6996|.	10|.	0.87932|.	D|.	0|.	-20.4616|-20.4616	13.6342|13.6342	0.62213|0.62213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1101;1123;1123|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	R|X	1127;1101|841	ENSP00000337998:G1127R|.	ENSP00000337998:G1127R|.	G|W	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48472998|48472998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.543000|6.543000	0.73874|0.73874	2.280000|2.280000	0.76307|0.76307	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		6	19	0	0	0	0.038147	0	6	19				
PPT2	9374	broad.mit.edu	37	6	32122416	32122416	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:32122416G>A	ENST00000324816.6	+	2	613	c.45G>A	c.(43-45)ctG>ctA	p.L15L	PPT2_ENST00000437001.2_5'UTR|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2_ENST00000395523.1_Silent_p.L15L|PRRT1_ENST00000211413.5_5'Flank|PPT2-EGFL8_ENST00000422437.1_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	15					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.L21L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CGTGGGTCCTGCTTCTGTTGC	0.672																																						ENST00000422437.1																			1	Substitution - coding silent(1)	p.L21L(1)	prostate(1)								c.(43-45)ctG>ctA									79.0	98.0	91.0					6																	32122416		1507	2706	4213	SO:0001819	synonymous_variant	0							g.chr6:32122416G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.45G>A	6.37:g.32122416G>A						PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000324816.6_Silent_p.L15L	p.L15L							2	236	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	c.45G>A	CCDS4742.1																																																																																				0.672	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		32	152	0	0	0	0.144211	0	32	152				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	23	1	0	3.59834e-05	0.021553	4.04813e-05	4	23				
STK19	8859	broad.mit.edu	37	6	31940215	31940215	+	Silent	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:31940215C>T	ENST00000375333.2	+	2	410	c.357C>T	c.(355-357)atC>atT	p.I119I	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'Flank|STK19_ENST00000463823.1_3'UTR|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_Silent_p.I119I|DXO_ENST00000375349.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	119					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I119I(1)		skin(5)|upper_aerodigestive_tract(2)	7						ATCACCTGATCCCGGAGACCT	0.597																																						ENST00000375331.2																			1	Substitution - coding silent(1)	p.I119I(1)	prostate(1)	skin(5)|upper_aerodigestive_tract(2)	7						c.(355-357)atC>atT		serine/threonine kinase 19							64.0	74.0	70.0					6																	31940215		1511	2709	4220	SO:0001819	synonymous_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940215C>T	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.357C>T	6.37:g.31940215C>T						STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I	p.I119I	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	523	+			119					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP	ENST00000375333.2	37	c.357C>T	CCDS4733.1																																																																																				0.597	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			15	119	0	0	0	0.043863	0	15	119				
ZFYVE26	23503	broad.mit.edu	37	14	68220894	68220894	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220894G>T	ENST00000347230.4	-	38	7160	c.7022C>A	c.(7021-7023)aCc>aAc	p.T2341N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2341					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.T2341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAAGAACCTGGTCACTTCCAT	0.527																																						ENST00000347230.4																			1	Substitution - Missense(1)	p.T2341N(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7021-7023)aCc>aAc		zinc finger, FYVE domain containing 26							170.0	164.0	166.0					14																	68220894		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68220894G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7022C>A	14.37:g.68220894G>T	ENSP00000251119:p.Thr2341Asn					ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	p.T2341N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	38	7160	-			2341					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.7022C>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183193	0.94885	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.50548	1.52;0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68773	-0.5320	10	0.56958	D	0.05	-22.4496	20.0787	0.97763	0.0:0.0:1.0:0.0	.	187;2341	Q96H43;Q68DK2	.;ZFY26_HUMAN	N	2341;2320;187	ENSP00000251119:T2341N;ENSP00000452142:T187N	ENSP00000251119:T2341N	T	-	2	0	ZFYVE26	67290647	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.572000	0.98179	2.757000	0.94681	0.462000	0.41574	ACC		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		27	188	1	0	1.77063e-15	0.108266	2.18725e-15	27	188				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		5	86	0	0	0	0.029380	0	5	86				
MAGEA12	4111	broad.mit.edu	37	X	151900633	151900633	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:151900633G>A	ENST00000357916.4	-	2	323	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.A56A|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.A56A|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	56								p.A56A(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGACTCGGCAGCAGGCA	0.612																																						ENST00000393900.3																			1	Substitution - coding silent(1)	p.A56A(1)	prostate(1)	breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(166-168)gcC>gcT		melanoma antigen family A, 12							76.0	77.0	77.0					X																	151900633		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900633G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.168C>T	X.37:g.151900633G>A						MAGEA12_ENST00000357916.4_Silent_p.A56A|MAGEA12_ENST00000393869.3_Silent_p.A56A|CSAG4_ENST00000361201.4_RNA	p.A56A	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	521	-	Acute lymphoblastic leukemia(192;6.56e-05)		56					Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.168C>T	CCDS14710.1																																																																																				0.612	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		24	59	0	0	0	0.076483	0	24	59				
RELL2	285613	broad.mit.edu	37	5	141017909	141017909	+	Silent	SNP	C	C	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:141017909C>G	ENST00000297164.3	+	1	1317	c.117C>G	c.(115-117)ctC>ctG	p.L39L	RELL2_ENST00000521367.1_Intron|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000518856.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.L39L	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	39					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L39L(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGCTCAAGAAGAAGG	0.597																																						ENST00000297164.3																			1	Substitution - coding silent(1)	p.L39L(1)	prostate(1)	large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(115-117)ctC>ctG		RELT-like 2							139.0	130.0	133.0					5																	141017909		2203	4300	6503	SO:0001819	synonymous_variant	285613					integral to membrane|plasma membrane		g.chr5:141017909C>G	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.117C>G	5.37:g.141017909C>G						RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000444782.1_Silent_p.L39L	p.L39L	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1317	+			39					D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	ENST00000297164.3	37	c.117C>G	CCDS4265.1																																																																																				0.597	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		6	158	0	0	0	0.021553	0	6	158				
TRHDE	29953	broad.mit.edu	37	12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413																																						ENST00000261180.4																			3	Substitution - Missense(3)	p.T318M(3)	large_intestine(1)|lung(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(952-954)aCg>aTg		thyrotropin-releasing hormone degrading enzyme							157.0	147.0	151.0					12																	72680634		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680634C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.953C>T	12.37:g.72680634C>T	ENSP00000261180:p.Thr318Met						p.T318M	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			2	1049	+			318					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.953C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753464	0.69648	.	.	ENSG00000072657	ENST00000261180	T	0.05025	3.51	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.49256	1.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00002	-1.2612	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	318	Q9UKU6	TRHDE_HUMAN	M	318	ENSP00000261180:T318M	ENSP00000261180:T318M	T	+	2	0	TRHDE	70966901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	ACG		0.413	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	157	0	0	0	0.021553	0	6	157				
ABCA4	24	broad.mit.edu	37	1	94506837	94506837	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:94506837G>A	ENST00000370225.3	-	23	3536	c.3450C>T	c.(3448-3450)tgC>tgT	p.C1150C		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1150	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.C1150C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTGCCAAAGCAGTTCTTCA	0.562																																						ENST00000370225.3																			1	Substitution - coding silent(1)	p.C1150C(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3448-3450)tgC>tgT		ATP-binding cassette, sub-family A (ABC1), member 4							122.0	112.0	115.0					1																	94506837		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506837G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3450C>T	1.37:g.94506837G>A							p.C1150C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3536	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1150			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3450C>T	CCDS747.1																																																																																				0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	75	0	0	0	0.049695	0	19	75				
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	97						7	97	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195412724	195412725	+	lincRNA	DEL	TT	TT	-			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr3:195412724_195412725delTT	ENST00000445430.1	+	0	3921_3922									long intergenic non-protein coding RNA 969																		TTGACAAAACTTTGAACGAGGC	0.401																																						ENST00000445430.1																			0																																																			0							g.chr3:195412724_195412725delTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412724_195412725delTT														0	3921_3922	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.401	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	10						6	10	---	---	---	---
SOWAHB	345079	broad.mit.edu	37	4	77818628	77818629	+	In_Frame_Ins	INS	-	-	CGC	rs546249358	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:77818628_77818629insCGC	ENST00000334306.2	-	1	373_374	c.374_375insGCG	c.(373-375)cgc>cgGCGc	p.125_125R>RR		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	125	Poly-Arg.																GCTCCTTCTCGCGCCGCCGCCG	0.792														52	0.0103834	0.0363	0.0043	5008	,	,		8648	0.0		0.001	False		,,,				2504	0.0					ENST00000334306.2																			0											c.(373-375)cga>cGCGga		sosondowah ankyrin repeat domain family member B																																				SO:0001652	inframe_insertion	345079							g.chr4:77818628_77818629insCGC		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.375_377dupGCG	4.37:g.77818635_77818637dupCGC	ENSP00000334879:p.Arg125dup						p.125_126insG	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	373_374	-			125			Poly-Arg.		B2RP29	In_Frame_Ins	INS	ENST00000334306.2	37	c.374_375insGCG	CCDS34017.1																																																																																				0.792	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		3	3						3	3	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273415	65273415	+	lincRNA	DEL	T	T	-			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:65273415delT	ENST00000534336.1	+	0	8183					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTGCTAAGACTTTTTCAGGTG	0.448																																						ENST00000534336.1																			0																				98.0	94.0	95.0					11																	65273415		874	1988	2862			0							g.chr11:65273415delT	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273415delT								NR_002819.2						0	8183	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.448	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		18	127						18	127	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26864155	26864156	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:26864155_26864156insT	ENST00000381340.3	-	9	1317_1318	c.901_902insA	c.(901-903)agcfs	p.S301fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	301	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTGAACAAGCTGTTCCACTGT	0.416																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(901-903)cttfs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26864155_26864156insT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.902dupA	12.37:g.26864156_26864156dupT	ENSP00000370744:p.Ser301fs						p.L301fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			9	1317_1318	-	Colorectal(261;0.0847)		301			MIR 4.		O94773	Frame_Shift_Ins	INS	ENST00000381340.3	37	c.901_902insA	CCDS41764.1																																																																																				0.416	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	74						7	74	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-	rs374461730		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383																																						ENST00000548261.1																			0																																																			0							g.chr14:20138377delA																													14.37:g.20138377delA														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.383	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	3						4	3	---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11782231	11782236	+	In_Frame_Del	DEL	GGCAGA	GGCAGA	-			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr16:11782231_11782236delGGCAGA	ENST00000356957.3	-	10	2154_2159	c.2047_2052delTCTGCC	c.(2047-2052)tctgccdel	p.SA683del	TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	683	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACGGGAACTGGGCAGAGCCACTTCCA	0.398																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2047-2052)del		thioredoxin domain containing 11																																				SO:0001651	inframe_deletion	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11782231_11782236delGGCAGA	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2047_2052delTCTGCC	16.37:g.11782231_11782236delGGCAGA	ENSP00000349439:p.Ser683_Ala684del					TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR	p.SA683del			Q6PKC3	TXD11_HUMAN			10	2154_2159	-			683			Thioredoxin 2.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	In_Frame_Del	DEL	ENST00000356957.3	37	c.2047_2052delTCTGCC																																																																																					0.398	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		13	91						13	91	---	---	---	---
