#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
SAMD9L	219285	broad.mit.edu	37	7	92764069	92764069	+	Nonsense_Mutation	SNP	G	G	A	rs150070697	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:92764069G>A	ENST00000318238.4	-	5	2432	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	406					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAGTCTCGGTTTCCTATG	0.353																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1216-1218)Cga>Tga		sterile alpha motif domain containing 9-like		G	stop/ARG	0,4406		0,0,2203	149.0	151.0	150.0		1216	3.7	1.0	7	dbSNP_134	150	13,8585	9.8+/-36.6	0,13,4286	yes	stop-gained	SAMD9L	NM_152703.2		0,13,6489	AA,AG,GG		0.1512,0.0,0.1		406/1585	92764069	13,12991	2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92764069G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1216C>T	7.37:g.92764069G>A	ENSP00000326247:p.Arg406*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406*	p.R406*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2432	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		406					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.1216C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	47	13.469791	0.99744	0.0	0.001512	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.54	3.65	0.41850	.	0.520727	0.16175	N	0.226118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8305	10.9379	0.47255	0.0:0.0:0.4871:0.5129	.	.	.	.	X	406	.	ENSP00000326247:R406X	R	-	1	2	SAMD9L	92602005	0.000000	0.05858	0.996000	0.52242	0.978000	0.69477	0.355000	0.20163	1.109000	0.41680	0.460000	0.39030	CGA		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		13	174	0	0	0	1	0	13	174				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	102	1	0	0.00198382	1	0.00213077	6	102				
SYT13	57586	broad.mit.edu	37	11	45274253	45274253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:45274253C>T	ENST00000020926.3	-	4	676	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	189	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCACAGCCTCCGTCGTGGTTG	0.602											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(565-567)Gga>Aga		synaptotagmin XIII							71.0	67.0	69.0					11																	45274253		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274253C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.565G>A	11.37:g.45274253C>T	ENSP00000020926:p.Gly189Arg		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930		p.G189R	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			4	676	-			189			C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.565G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601689	0.46423	.	.	ENSG00000019505	ENST00000020926	T	0.11604	2.76	5.85	4.94	0.65067	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.345067	0.29522	N	0.011905	T	0.10895	0.0266	L	0.32530	0.975	0.20307	N	0.999918	D	0.56287	0.975	P	0.45310	0.476	T	0.12066	-1.0562	10	0.87932	D	0	.	9.5373	0.39231	0.0:0.8007:0.0:0.1993	.	189	Q7L8C5	SYT13_HUMAN	R	189	ENSP00000020926:G189R	ENSP00000020926:G189R	G	-	1	0	SYT13	45230829	0.035000	0.19736	0.261000	0.24466	0.185000	0.23345	1.001000	0.29783	1.475000	0.48197	0.561000	0.74099	GGA		0.602	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		4	79	0	0	0	1	0	4	79				
STEAP2	261729	broad.mit.edu	37	7	89856643	89856643	+	Missense_Mutation	SNP	A	A	G	rs138124501	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:89856643A>G	ENST00000287908.3	+	3	1244	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	284	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAACTTTATTACGGCACCAAG	0.408													A|||	7	0.00139776	0.0	0.0043	5008	,	,		18351	0.0		0.004	False		,,,				2504	0.0					ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(850-852)tAc>tGc		STEAP family member 2, metalloreductase		A	CYS/TYR,CYS/TYR,CYS/TYR	5,4401	9.9+/-24.2	0,5,2198	86.0	85.0	85.0		851,851,851	6.0	1.0	7	dbSNP_134	85	50,8550	31.2+/-83.2	1,48,4251	yes	missense,missense,missense	STEAP2	NM_001040665.1,NM_001040666.1,NM_152999.3	194,194,194	1,53,6449	GG,GA,AA		0.5814,0.1135,0.4229	probably-damaging,probably-damaging,probably-damaging	284/491,284/455,284/491	89856643	55,12951	2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856643A>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.851A>G	7.37:g.89856643A>G	ENSP00000287908:p.Tyr284Cys					STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C	p.Y284C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1244	+	all_hematologic(106;0.112)		284			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.851A>G	CCDS5615.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	A	16.98	3.271528	0.59649	0.001135	0.005814	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	6.04	6.04	0.98038	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	L	0.36672	1.1	0.50632	D	0.999882	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.973;0.99;0.962;0.962	D	0.90191	0.4250	9	.	.	.	-15.7275	16.5885	0.84745	1.0:0.0:0.0:0.0	.	284;284;284;284	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	C	284	ENSP00000287908:Y284C;ENSP00000378123:Y284C;ENSP00000378120:Y284C;ENSP00000378128:Y284C;ENSP00000378119:Y284C;ENSP00000384191:Y284C;ENSP00000378125:Y284C	.	Y	+	2	0	STEAP2	89694579	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	5.266000	0.65525	2.317000	0.78254	0.460000	0.39030	TAC		0.408	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		8	85	0	0	0	1	0	8	85				
FLNB	2317	broad.mit.edu	37	3	58062900	58062900	+	Silent	SNP	G	G	A	rs192491895	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr3:58062900G>A	ENST00000295956.4	+	2	585	c.420G>A	c.(418-420)acG>acA	p.T140T	FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000490882.1_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000357272.4_Silent_p.T140T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	140	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAAGCAGACGCCAAAGCAGA	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		20016	0.001		0.001	False		,,,				2504	0.0					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(418-420)acG>acA		filamin B, beta							89.0	86.0	87.0					3																	58062900		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58062900G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.420G>A	3.37:g.58062900G>A						FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000295956.4_Silent_p.T140T|FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000490882.1_Silent_p.T140T	p.T140T			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	2	585	+			140			Actin-binding.|CH 2.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.420G>A	CCDS2885.1																																																																																				0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	76	0	0	0	1	0	4	76				
COL5A3	50509	broad.mit.edu	37	19	10088375	10088375	+	Silent	SNP	G	G	T			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr19:10088375G>T	ENST00000264828.3	-	42	3106	c.3021C>A	c.(3019-3021)ggC>ggA	p.G1007G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1007	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACCAGGGGAGCCCTGAGAAC	0.572																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3019-3021)ggC>ggA		collagen, type V, alpha 3																																				SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088375G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3021C>A	19.37:g.10088375G>T							p.G1007G	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		42	3106	-			1007			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.3021C>A	CCDS12222.1																																																																																				0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	16	1	0	0.00909568	1	0.00909568	4	16				
FGF16	8823	broad.mit.edu	37	X	76711785	76711785	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:76711785A>T	ENST00000439435.1	+	2	122	c.122A>T	c.(121-123)aAt>aTt	p.N41I				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						TCACACGTGAATGTGTTTTCC	0.423																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(121-123)aAt>aTt		fibroblast growth factor 16							113.0	105.0	107.0					X																	76711785		1875	4100	5975	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711785A>T	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.122A>T	X.37:g.76711785A>T	ENSP00000399324:p.Asn41Ile						p.N41I			O43320	FGF16_HUMAN			2	122	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.122A>T		.	.	.	.	.	.	.	.	.	.	A	6.318	0.426809	0.11987	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.6	4.45	0.53987	.	.	.	.	.	T	0.42200	0.1192	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52793	-0.8528	3	.	.	.	.	6.3036	0.21127	0.7053:0.0:0.2947:0.0	.	.	.	.	I	41	.	.	N	+	2	0	FGF16	76598441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.982000	0.40638	1.866000	0.54105	0.486000	0.48141	AAT		0.423	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		4	70	0	0	0	1	0	4	70				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	77	0	0	0	1	0	4	77				
CASC5	57082	broad.mit.edu	37	15	40917081	40917081	+	Missense_Mutation	SNP	G	G	A	rs183316447	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr15:40917081G>A	ENST00000346991.5	+	11	5087	c.4697G>A	c.(4696-4698)gGa>gAa	p.G1566E	CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1566					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTCAATGCTGGAGAAGCACCA	0.343													G|||	3	0.000599042	0.0	0.0	5008	,	,		19278	0.0		0.003	False		,,,				2504	0.0					ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(4696-4698)gGa>gAa		cancer susceptibility candidate 5		G	GLU/GLY,GLU/GLY	0,3786		0,0,1893	56.0	54.0	55.0		4619,4697	0.5	0.0	15		55	1,8225		0,1,4112	yes	missense,missense	CASC5	NM_144508.3,NM_170589.3	98,98	0,1,6005	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	1540/2317,1566/2343	40917081	1,12011	1893	4113	6006	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917081G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4697G>A	15.37:g.40917081G>A	ENSP00000335463:p.Gly1566Glu					CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E	p.G1566E			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5087	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1566					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.4697G>A	CCDS42023.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	0.007	-2.013532	0.00422	0.0	1.22E-4	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.04083	3.71;3.71	5.63	0.471	0.16752	.	1.432560	0.04218	N	0.332929	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39396	-0.9616	10	0.02654	T	1	.	8.2757	0.31871	0.2938:0.1328:0.5734:0.0	.	1540;1566;1540	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	E	1566;1540;1540	ENSP00000335463:G1566E;ENSP00000382576:G1540E	ENSP00000260369:G1540E	G	+	2	0	CASC5	38704373	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.197000	0.09518	-0.094000	0.12374	-0.813000	0.03139	GGA		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		4	38	0	0	0	1	0	4	38				
OR4A5	81318	broad.mit.edu	37	11	51411634	51411634	+	Missense_Mutation	SNP	T	T	C	rs143887524	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:51411634T>C	ENST00000319760.6	-	1	814	c.762A>G	c.(760-762)atA>atG	p.I254M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCTAACATATATGAAAATAC	0.388													.|||	3	0.000599042	0.0023	0.0	5008	,	,		19789	0.0		0.0	False		,,,				2504	0.0					ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(760-762)atA>atG		olfactory receptor, family 4, subfamily A, member 5		T	MET/ILE	24,4378		0,24,2177	52.0	51.0	52.0		762	-1.4	0.2	11	dbSNP_134	52	2,8590		0,2,4294	yes	missense	OR4A5	NM_001005272.3	10	0,26,6471	CC,CT,TT		0.0233,0.5452,0.2001	benign	254/316	51411634	26,12968	2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411634T>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.762A>G	11.37:g.51411634T>C	ENSP00000367664:p.Ile254Met						p.I254M	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	814	-		all_lung(304;0.236)	254					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.762A>G	CCDS31497.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	0.001	-3.667797	0.00006	0.005452	2.33E-4	ENSG00000221840	ENST00000319760	T	0.00044	8.83	2.2	-1.42	0.08913	GPCR, rhodopsin-like superfamily (1);	0.227417	0.30602	N	0.009278	T	0.00039	0.0001	N	0.11341	0.13	0.09310	N	1	B	0.06786	0.001	B	0.17722	0.019	T	0.39078	-0.9631	10	0.08179	T	0.78	.	0.2953	0.00264	0.2052:0.3055:0.2026:0.2867	.	254	Q8NH83	OR4A5_HUMAN	M	254	ENSP00000367664:I254M	ENSP00000367664:I254M	I	-	3	3	OR4A5	51268210	0.000000	0.05858	0.224000	0.23877	0.022000	0.10575	-3.316000	0.00515	-0.280000	0.09154	-1.288000	0.01363	ATA		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		4	80	0	0	0	1	0	4	80				
SRPX2	27286	broad.mit.edu	37	X	99917332	99917332	+	Missense_Mutation	SNP	G	G	A	rs200483534		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:99917332G>A	ENST00000373004.3	+	4	751	c.323G>A	c.(322-324)aGc>aAc	p.S108N		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	108	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCCTGCCAAGCCGTCGTTGG	0.557																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(322-324)aGc>aAc		sushi-repeat containing protein, X-linked 2							149.0	120.0	130.0					X																	99917332		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917332G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.323G>A	X.37:g.99917332G>A	ENSP00000362095:p.Ser108Asn						p.S108N	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			4	751	+			108			Sushi 1.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.323G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	0.123	-1.123695	0.01770	.	.	ENSG00000102359	ENST00000373004	T	0.61859	0.07	5.07	0.862	0.19056	Complement control module (2);Sushi/SCR/CCP (3);	0.327802	0.42172	N	0.000760	T	0.31796	0.0808	N	0.11341	0.13	0.31689	N	0.642076	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	9	.	.	.	-6.3726	9.3354	0.38047	0.5273:0.0:0.4727:0.0	.	108	O60687	SRPX2_HUMAN	N	108	ENSP00000362095:S108N	.	S	+	2	0	SRPX2	99803988	0.984000	0.35163	0.972000	0.41901	0.505000	0.33919	0.204000	0.17335	-0.210000	0.10140	-0.305000	0.09177	AGC		0.557	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		6	91	0	0	0	1	0	6	91				
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			5	4						5	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	7						6	7	---	---	---	---
