#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
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																729171							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	51	0	0	0	1	0	3	51				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	54	0	0	0	1	0	3	54				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	29	0	0	0	1	0	5	29				
MST1L	11223	broad.mit.edu	37	1	17083685	17083685	+	RNA	SNP	C	C	A	rs3197973	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:17083685C>A	ENST00000455405.2	-	0	903							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTGTACTTACAAGTTTTGTC	0.403																																						ENST00000455405.2																			0																																																			11223							g.chr1:17083685C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083685C>A														0	903	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.403	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	21	1	0	0.00198382	1	0.00198382	4	21				
NASP	4678	broad.mit.edu	37	1	46073584	46073584	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:46073584T>G	ENST00000350030.3	+	6	1088	c.1001T>G	c.(1000-1002)gTa>gGa	p.V334G	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V270G|NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	334	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAACAACTGGTAGGTCAAGAA	0.542																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1000-1002)gTa>gGa		nuclear autoantigenic sperm protein (histone-binding)							68.0	69.0	69.0					1																	46073584		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073584T>G	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1001T>G	1.37:g.46073584T>G	ENSP00000255120:p.Val334Gly					NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V270G	p.V334G	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1088	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		334			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1001T>G	CCDS524.1	.	.	.	.	.	.	.	.	.	.	T	1.507	-0.550605	0.03996	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94793	-3.52;-3.52;-3.52	5.13	-0.43	0.12299	.	0.799548	0.11019	N	0.608546	D	0.87346	0.6154	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.003	T	0.73972	-0.3814	9	.	.	.	0.1712	7.1263	0.25473	0.0:0.0821:0.436:0.4819	.	270;334;234;334;336	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	G	270;336;234;334;297	ENSP00000438871:V270G;ENSP00000384529:V336G;ENSP00000255120:V334G	.	V	+	2	0	NASP	45846171	0.930000	0.31532	0.058000	0.19502	0.116000	0.19942	0.134000	0.15932	0.100000	0.17581	0.455000	0.32223	GTA		0.542	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		3	41	0	0	0	1	0	3	41				
ZC3H6	376940	broad.mit.edu	37	2	113089358	113089358	+	Missense_Mutation	SNP	G	G	A	rs199593500		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr2:113089358G>A	ENST00000409871.1	+	12	3264	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	955							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGACTCACACGGTTCAGGAGC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20616	0.0		0.001	False		,,,				2504	0.0					ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2863-2865)Ggt>Agt		zinc finger CCCH-type containing 6							82.0	76.0	78.0					2																	113089358		1850	4095	5945	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089358G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2863G>A	2.37:g.113089358G>A	ENSP00000386764:p.Gly955Ser					ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S	p.G955S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3264	+			955					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2863G>A	CCDS46393.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.059	-1.229732	0.01518	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.12255	2.7;2.7	5.27	1.58	0.23477	.	0.306550	0.41194	N	0.000931	T	0.03178	0.0093	N	0.00633	-1.31	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.45279	-0.9272	10	0.11485	T	0.65	-5.1045	9.0975	0.36647	0.6408:0.0:0.3592:0.0	.	955	P61129	ZC3H6_HUMAN	S	955	ENSP00000386764:G955S;ENSP00000340298:G955S	ENSP00000340298:G955S	G	+	1	0	ZC3H6	112805829	0.996000	0.38824	0.932000	0.37286	0.921000	0.55340	1.347000	0.33975	0.108000	0.17862	-0.383000	0.06682	GGT		0.393	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		3	25	0	0	0	1	0	3	25				
SSTR3	6753	broad.mit.edu	37	22	37602845	37602845	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr22:37602845C>T	ENST00000328544.3	-	2	1531	c.998G>A	c.(997-999)cGc>cAc	p.R333H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	333					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R333H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCGCACACGGCGGGAGGGCCG	0.667																																						ENST00000328544.3																			1	Substitution - Missense(1)	p.R333H(1)	NS(1)	NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(997-999)cGc>cAc		somatostatin receptor 3							32.0	38.0	36.0					22																	37602845		2203	4297	6500	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602845C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.998G>A	22.37:g.37602845C>T	ENSP00000330138:p.Arg333His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H	p.R333H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1531	-			333					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.998G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109578	0.56398	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38401	1.14;1.14	5.29	5.29	0.74685	.	0.476428	0.22757	N	0.056007	T	0.53190	0.1781	M	0.66939	2.045	0.22620	N	0.998924	D	0.89917	1.0	D	0.67382	0.951	T	0.48234	-0.9053	10	0.15066	T	0.55	.	13.8588	0.63548	0.1527:0.8473:0.0:0.0	.	333	P32745	SSR3_HUMAN	H	333	ENSP00000330138:R333H;ENSP00000384904:R333H	ENSP00000330138:R333H	R	-	2	0	SSTR3	35932791	1.000000	0.71417	0.932000	0.37286	0.743000	0.42351	5.910000	0.69931	2.460000	0.83146	0.563000	0.77884	CGC		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			5	43	0	0	0	1	0	5	43				
PTCH2	8643	broad.mit.edu	37	1	45288335	45288335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:45288335G>A	ENST00000372192.3	-	22	3494	c.3364C>T	c.(3364-3366)Cag>Tag	p.Q1122*	PTCH2_ENST00000447098.2_Nonsense_Mutation_p.Q1122*|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1122					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTGTACATCTGTATCACCTGT	0.622									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3364-3366)Cag>Tag		patched 2							81.0	90.0	87.0					1																	45288335		2203	4300	6503	SO:0001587	stop_gained	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288335G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3364C>T	1.37:g.45288335G>A	ENSP00000361266:p.Gln1122*					PTCH2_ENST00000372192.3_Nonsense_Mutation_p.Q1122*	p.Q1122*	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			22	3375	-	Acute lymphoblastic leukemia(166;0.155)		1122					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Nonsense_Mutation	SNP	ENST00000372192.3	37	c.3364C>T	CCDS516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	39|39	7.430215|7.430215	0.98279|0.98279	.|.	.|.	ENSG00000117425|ENSG00000117425	ENST00000447098;ENST00000372192|ENST00000438067	.|.	.|.	.|.	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.45126|.	D|.	0.000385|.	.|T	.|0.52108	.|0.1714	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61811	.|-0.6986	.|3	0.38643|.	T|.	0.18|.	-8.5294|-8.5294	9.5986|9.5986	0.39589|0.39589	0.0:0.0:0.7912:0.2088|0.0:0.0:0.7912:0.2088	.|.	.|.	.|.	.|.	X|I	1122|42	.|.	ENSP00000361266:Q1122X|.	Q|T	-|-	1|2	0|0	PTCH2|PTCH2	45060922|45060922	0.999000|0.999000	0.42202|0.42202	0.990000|0.990000	0.47175|0.47175	0.914000|0.914000	0.54420|0.54420	3.685000|3.685000	0.54678|0.54678	2.237000|2.237000	0.73441|0.73441	0.645000|0.645000	0.84053|0.84053	CAG|ACA		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		4	82	0	0	0	1	0	4	82				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	89	0	0	0	1	0	4	89				
AGBL2	79841	broad.mit.edu	37	11	47712201	47712201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:47712201C>T	ENST00000525123.1	-	10	1343	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	353						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCTCTCCTCCAGCCAATATT	0.453																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1057-1059)tGg>tAg		ATP/GTP binding protein-like 2							136.0	127.0	130.0					11																	47712201		2201	4298	6499	SO:0001587	stop_gained	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712201C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1058G>A	11.37:g.47712201C>T	ENSP00000435582:p.Trp353*					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*	p.W353*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1343	-			353					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Nonsense_Mutation	SNP	ENST00000525123.1	37	c.1058G>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	38	6.835127	0.97873	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2279	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	353;353;353;315;297	.	ENSP00000298861:W353X	W	-	2	0	AGBL2	47668777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.785000	0.95823	0.655000	0.94253	TGG		0.453	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		22	20	0	0	0	1	0	22	20				
SPTBN2	6712	broad.mit.edu	37	11	66475224	66475224	+	Silent	SNP	C	C	T	rs145249947	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:66475224C>T	ENST00000533211.1	-	13	1747	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	472					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACGATGTCCGTCTCAATGG	0.672													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.0					ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1414-1416)acG>acA		spectrin, beta, non-erythrocytic 2		C		44,4356	46.7+/-81.2	0,44,2156	60.0	55.0	56.0		1416	-8.9	0.9	11	dbSNP_134	56	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SPTBN2	NM_006946.2		0,45,6450	TT,TC,CC		0.0116,1.0,0.3464		472/2391	66475224	45,12945	2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66475224C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1416G>A	11.37:g.66475224C>T						SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T	p.T472T			O15020	SPTN2_HUMAN			13	1747	-			472					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1416G>A	CCDS8150.1																																																																																				0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	67	0	0	0	1	0	5	67				
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C	rs533581140	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453													A|||	87	0.0173722	0.0333	0.0115	5008	,	,		16636	0.0099		0.007	False		,,,				2504	0.0184					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89392753A>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392753A>C										Q9HBA9	FOH1B_HUMAN			0	576	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.453	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	27	0	0	0	1	0	3	27				
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		5	8						5	8	---	---	---	---
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61									estrogen-related receptor alpha pseudogene 2																		GATGGACTGAGGCGAGGGGTGGGACT	0.646																																						ENST00000427890.1																			0																																																			144832							g.chr13:21835723_21835728delGGCGAG	U85258		13q12.11	2011-03-15			ENSG00000235438	ENSG00000235438			24647	pseudogene	pseudogene						9344655, 3267207, 18065488	Standard	NG_007350		Approved	ESTRRA			OTTHUMG00000016534		13.37:g.21835723_21835728delGGCGAG														0	61	+									RNA	DEL	ENST00000427890.1	37																																																																																						0.646	ESRRAP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471193.1	NR_000033		2	4						2	4	---	---	---	---
PABPN1	8106	broad.mit.edu	37	14	23791016	23791016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr14:23791016delC	ENST00000216727.4	+	1	519	c.338delC	c.(337-339)gccfs	p.A113fs	PABPN1_ENST00000397276.2_Frame_Shift_Del_p.A113fs|PABPN1_ENST00000557702.1_5'Flank|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|PABPN1_ENST00000556821.1_5'UTR|BCL2L2-PABPN1_ENST00000557008.1_Intron|BCL2L2-PABPN1_ENST00000553781.1_Intron	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	113	Interacts with SKIP.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGACGGCGCCATTGAGGAC	0.771																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(337-339)gcfs		poly(A) binding protein, nuclear 1							5.0	6.0	6.0					14																	23791016		1951	3823	5774	SO:0001589	frameshift_variant	8106							g.chr14:23791016delC	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.338delC	14.37:g.23791016delC	ENSP00000216727:p.Ala113fs					BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.A113fs|BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000556821.1_5'UTR	p.A113fs						GBM - Glioblastoma multiforme(265;0.00643)	1	351	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Frame_Shift_Del	DEL	ENST00000216727.4	37	c.338delC	CCDS9592.1																																																																																				0.771	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		2	4						2	4	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	4	5						4	5	---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19042905	19042906	+	Frame_Shift_Del	DEL	GA	GA	-	rs80104014	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr19:19042905_19042906delGA	ENST00000539827.1	-	6	1221_1222	c.569_570delTC	c.(568-570)ttcfs	p.F190fs	HOMER3_ENST00000594794.1_Intron|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	190					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CCTGCAGTGCGAAAAACTCGGC	0.688																																						ENST00000539827.1																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(568-570)tfs		homer homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19042905_19042906delGA	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.569_570delTC	19.37:g.19042905_19042906delGA	ENSP00000439937:p.Phe190fs					HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs	p.F190fs			Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		6	1221_1222	-			190					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Frame_Shift_Del	DEL	ENST00000539827.1	37	c.569_570delTC	CCDS12391.1																																																																																				0.688	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			2	4						2	4	---	---	---	---
