#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
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		6	15	0	0	0	0.479597	0	6	15				
RPAP3	79657	broad.mit.edu	37	12	48091473	48091473	+	Silent	SNP	G	G	A	rs150350108		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:48091473G>A	ENST00000005386.3	-	4	439	c.324C>T	c.(322-324)gaC>gaT	p.D108D	RPAP3_ENST00000432584.3_De_novo_Start_OutOfFrame|RPAP3_ENST00000380650.4_Silent_p.D108D	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	108										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GGGTACTATCGTCTTTGTCAA	0.353																																						ENST00000432584.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16								RNA polymerase II associated protein 3							104.0	104.0	104.0					12																	48091473		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48091473G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.324C>T	12.37:g.48091473G>A						RPAP3_ENST00000380650.4_Silent_p.D108D|RPAP3_ENST00000005386.3_Silent_p.D108D		NM_001146076.1	NP_001139548.1	Q9H6T3	RPAP3_HUMAN			0	245	-	Lung SC(27;0.192)							B4DRW9|Q6PHR5	Translation_Start_Site	SNP	ENST00000005386.3	37		CCDS8753.1																																																																																				0.353	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	99	0	0	0	0.335167	0	8	99				
GAD2	2572	broad.mit.edu	37	10	26506815	26506815	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr10:26506815A>G	ENST00000376261.3	+	3	684	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	GAD2_ENST00000376248.1_5'Flank|GAD2_ENST00000259271.3_Missense_Mutation_p.S61G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	61					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAGCGGCGGGAGCCAAccccc	0.706																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(181-183)Agc>Ggc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						8.0	12.0	11.0					10																	26506815		2119	4154	6273	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506815A>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.181A>G	10.37:g.26506815A>G	ENSP00000365437:p.Ser61Gly					GAD2_ENST00000259271.3_Missense_Mutation_p.S61G	p.S61G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			3	684	+			61					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.181A>G	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878868	0.33162	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.48201	0.82;0.82;0.82	5.94	5.94	0.96194	.	0.580111	0.20388	N	0.093306	T	0.40322	0.1112	L	0.34521	1.04	0.80722	D	1	B;B	0.19200	0.034;0.018	B;B	0.24394	0.053;0.013	T	0.17440	-1.0369	10	0.22706	T	0.39	-6.4725	16.0713	0.80936	1.0:0.0:0.0:0.0	.	61;61	Q4G154;Q05329	.;DCE2_HUMAN	G	61	ENSP00000365437:S61G;ENSP00000259271:S61G;ENSP00000390434:S61G	ENSP00000259271:S61G	S	+	1	0	GAD2	26546821	0.829000	0.29322	0.748000	0.31131	0.026000	0.11368	2.469000	0.45110	2.279000	0.76181	0.459000	0.35465	AGC		0.706	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	4	0	0	0	0.557998	0	5	4				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	143	0	0	0	0.217242	0	6	143				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	56	0	0	0	0.248553	0	7	56				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	17	1	0	0.00198382	0.248553	0.0022318	5	17				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	27	0	0	0	0.150653	0	3	27				
YWHAG	7532	broad.mit.edu	37	7	75959220	75959220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:75959220C>A	ENST00000307630.3	-	2	640	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	140					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTTTCTCTCCGGTGGCCACT	0.562																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(418-420)Gga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							137.0	137.0	137.0					7																	75959220		2203	4300	6503	SO:0001587	stop_gained	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959220C>A	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.418G>T	7.37:g.75959220C>A	ENSP00000306330:p.Gly140*						p.G140*	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	640	-			140					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Nonsense_Mutation	SNP	ENST00000307630.3	37	c.418G>T	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	C	37	6.109776	0.97291	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2853	0.90112	0.0:1.0:0.0:0.0	.	.	.	.	X	140;118;100	.	ENSP00000306330:G140X	G	-	1	0	YWHAG	75797156	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.793000	0.96121	0.650000	0.86243	GGA		0.562	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		7	143	1	0	2.0095e-06	0.248553	2.35898e-06	7	143				
C19orf44	84167	broad.mit.edu	37	19	16614022	16614022	+	Silent	SNP	C	C	T	rs138964724	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr19:16614022C>T	ENST00000221671.3	+	3	1062	c.906C>T	c.(904-906)caC>caT	p.H302H	C19orf44_ENST00000594035.1_Silent_p.H302H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	302										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACAGAGTCACGTTTCCAGTG	0.547													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.0					ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(904-906)caC>caT		chromosome 19 open reading frame 44		C		14,4392	22.3+/-47.3	0,14,2189	111.0	103.0	106.0		906	-1.5	0.0	19	dbSNP_134	106	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous	C19orf44	NM_032207.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		302/658	16614022	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16614022C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.906C>T	19.37:g.16614022C>T						CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.H302H	p.H302H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	1062	+			302					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.906C>T	CCDS12345.1																																																																																				0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		6	90	0	0	0	0.217242	0	6	90				
CDPF1	150383	broad.mit.edu	37	22	46643010	46643010	+	Silent	SNP	G	G	A			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr22:46643010G>A	ENST00000314567.3	-	3	645	c.222C>T	c.(220-222)ggC>ggT	p.G74G	CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Silent_p.G74G|CDPF1_ENST00000404583.1_Intron	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	74																	TACCCACCGGGCCCACACACA	0.617																																						ENST00000314567.3																			0											c.(220-222)ggC>ggT		cysteine-rich, DPF motif domain containing 1							66.0	57.0	60.0					22																	46643010		2203	4300	6503	SO:0001819	synonymous_variant	150383							g.chr22:46643010G>A		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.222C>T	22.37:g.46643010G>A						CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Silent_p.G74G|CDPF1_ENST00000404583.1_Intron	p.G74G	NM_207327.4	NP_997210.3					3	645	-								A6NCA1|A9IU12|A9IU16|Q3ZCR8	Silent	SNP	ENST00000314567.3	37	c.222C>T	CCDS33670.1																																																																																				0.617	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		3	21	0	0	0	0.115264	0	3	21				
ITPR2	3709	broad.mit.edu	37	12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A	rs372121234	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:26572040G>A	ENST00000381340.3	-	50	7468	c.7052C>T	c.(7051-7053)gCg>gTg	p.A2351V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2351					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGGACATACGCCACGTGATA	0.448													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18574	0.0		0.0	False		,,,				2504	0.0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7051-7053)gCg>gTg		inositol 1,4,5-trisphosphate receptor, type 2		G	VAL/ALA	1,4061		0,1,2030	89.0	97.0	95.0		7052	4.3	0.5	12		95	1,8375		0,1,4187	no	missense	ITPR2	NM_002223.2	64	0,2,6217	AA,AG,GG		0.0119,0.0246,0.0161	benign	2351/2702	26572040	2,12436	2031	4188	6219	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572040G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7052C>T	12.37:g.26572040G>A	ENSP00000370744:p.Ala2351Val					RP11-513G19.1_ENST00000535324.1_RNA	p.A2351V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			50	7468	-	Colorectal(261;0.0847)		2351					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7052C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	3.998	-0.003084	0.07773	2.46E-4	1.19E-4	ENSG00000123104	ENST00000381340	D	0.98178	-4.77	5.22	4.31	0.51392	Ion transport (1);	0.265675	0.37530	N	0.002051	D	0.94066	0.8098	L	0.31664	0.95	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.82135	-0.0607	10	0.10377	T	0.69	.	9.0202	0.36195	0.2156:0.0:0.7844:0.0	.	2351	Q14571	ITPR2_HUMAN	V	2351	ENSP00000370744:A2351V	ENSP00000370744:A2351V	A	-	2	0	ITPR2	26463307	0.001000	0.12720	0.524000	0.27887	0.944000	0.59088	1.196000	0.32198	2.716000	0.92895	0.655000	0.94253	GCG		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	59	0	0	0	0.150653	0	4	59				
AP3M1	26985	broad.mit.edu	37	10	75883629	75883629	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr10:75883629T>C	ENST00000355264.4	-	9	1507	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Missense_Mutation_p.Y399C	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	399	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AAATGGCTTATATTTCTCCCC	0.363																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(1195-1197)tAt>tGt		adaptor-related protein complex 3, mu 1 subunit							206.0	188.0	194.0					10																	75883629		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75883629T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1196A>G	10.37:g.75883629T>C	ENSP00000347408:p.Tyr399Cys					AP3M1_ENST00000372745.1_Missense_Mutation_p.Y399C	p.Y399C	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			9	1507	-	Prostate(51;0.0112)		399			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.1196A>G	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.823571	0.71143	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.23552	1.9;1.9	5.8	4.63	0.57726	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.70124	-0.4958	10	0.87932	D	0	-7.5238	12.3787	0.55295	0.1257:0.0:0.0:0.8742	.	345;399	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	C	399	ENSP00000347408:Y399C;ENSP00000361831:Y399C	ENSP00000347408:Y399C	Y	-	2	0	AP3M1	75553635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.915000	0.69973	2.216000	0.71823	0.533000	0.62120	TAT		0.363	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			9	189	0	0	0	0.335167	0	9	189				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	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)																																																0							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	55	0	0	0	0.150653	0	4	55				
RPL12P38	645688	broad.mit.edu	37	17	58512596	58512596	+	RNA	SNP	G	G	A			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr17:58512596G>A	ENST00000588627.1	-	0	761									ribosomal protein L12 pseudogene 38																		TTTTCTGCAGGGCTATTCCCT	0.483																																						ENST00000588627.1																			0																																																			0							g.chr17:58512596G>A			17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512596G>A														0	761	-									RNA	SNP	ENST00000588627.1	37																																																																																						0.483	RPL12P38-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000449464.1	NG_010298		3	55	0	0	0	0.115264	0	3	55				
TMEM161B	153396	broad.mit.edu	37	5	87493539	87493539	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr5:87493539T>C	ENST00000296595.6	-	11	1257	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	TMEM161B_ENST00000514135.1_Missense_Mutation_p.Y378C|TMEM161B_ENST00000512429.1_Missense_Mutation_p.Y367C|TMEM161B_ENST00000511218.1_Missense_Mutation_p.Y169C|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000515293.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	378						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGGCGCCACATACTGCAGTGC	0.423																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1132-1134)tAt>tGt		transmembrane protein 161B							135.0	135.0	135.0					5																	87493539		2203	4300	6503	SO:0001583	missense	153396					integral to membrane		g.chr5:87493539T>C	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1133A>G	5.37:g.87493539T>C	ENSP00000296595:p.Tyr378Cys					TMEM161B_ENST00000512429.1_Missense_Mutation_p.Y367C|TMEM161B_ENST00000511218.1_Missense_Mutation_p.Y169C|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000514135.1_Missense_Mutation_p.Y378C	p.Y378C	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	11	1257	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	378					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1133A>G	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774543	0.90108	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000511218;ENST00000512429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82579	-0.0387	9	0.87932	D	0	-39.462	16.3839	0.83495	0.0:0.0:0.0:1.0	.	169;378	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	C	378;378;169;367	.	ENSP00000296595:Y378C	Y	-	2	0	TMEM161B	87529295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	TAT		0.423	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		4	85	0	0	0	0.184627	0	4	85				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	3						4	3	---	---	---	---
MPZ	4359	broad.mit.edu	37	1	161279666	161279666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr1:161279666delG	ENST00000533357.1	-	1	96	c.30delC	c.(28-30)cccfs	p.P10fs	MPZ_ENST00000491222.2_5'Flank|MPZ_ENST00000360451.6_Frame_Shift_Del_p.P20fs|MPZ_ENST00000336559.4_Frame_Shift_Del_p.P10fs|MPZ_ENST00000526189.1_5'Flank	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	10					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGATAGGGCTGGGGCTGGATG	0.617																																						ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(28-30)ccfs		myelin protein zero							16.0	17.0	17.0					1																	161279666		2199	4293	6492	SO:0001589	frameshift_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161279666delG	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.30delC	1.37:g.161279666delG	ENSP00000432943:p.Pro10fs					MPZ_ENST00000336559.4_Frame_Shift_Del_p.P10fs|MPZ_ENST00000360451.6_Frame_Shift_Del_p.P20fs	p.P10fs	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	96	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	10					Q16072|Q5VTH4|Q92677|Q9BR67	Frame_Shift_Del	DEL	ENST00000533357.1	37	c.30delC	CCDS1229.2																																																																																				0.617	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		2	4						2	4	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	6						3	6	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129811873	129811875	+	lincRNA	DEL	AAA	AAA	-	rs561529908|rs71158104	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr3:129811873_129811875delAAA	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							agtctgtcagaaaaaaaaaaaaa	0.384														2938	0.586661	0.4939	0.647	5008	,	,		14569	0.4583		0.7565	False		,,,				2504	0.6268					ENST00000514010.1																			0																																																			0							g.chr3:129811873_129811875delAAA																													3.37:g.129811882_129811884delAAA						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	DEL	ENST00000514010.1	37																																																																																						0.384	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			4	7						4	7	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC	rs564094826	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(502-504)ggc>GGCggc	p.168_168G>GG	SOX4_ENST00000543472.1_In_Frame_Ins_p.168_168G>GG	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	168					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738														127	0.0253594	0.0923	0.0043	5008	,	,		7118	0.0		0.002	False		,,,				2504	0.0					ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(499-504)gggcgg>ggGGCgcgg		SRY (sex determining region Y)-box 4																																				SO:0001652	inframe_insertion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595266_21595267insGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.514_516dupGGC	6.37:g.21595273_21595275dupGGC	ENSP00000244745:p.Gly173dup					SOX4_ENST00000543472.1_In_Frame_Ins_p.167_168GR>GAR	p.167_168GR>GAR	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1295_1296	+	Ovarian(93;0.163)		167						In_Frame_Ins	INS	ENST00000244745.1	37	c.501_502insGGC	CCDS4547.1																																																																																				0.738	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		3	5						3	5	---	---	---	---
FKBP9P1	360132	broad.mit.edu	37	7	55750689	55750690	+	RNA	INS	-	-	T	rs201762383		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:55750689_55750690insT	ENST00000455909.1	-	0	699				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GTTTTGTTTTGTTTTTTTCTCT	0.465																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like																																						360132							g.chr7:55750689_55750690insT																													7.37:g.55750696_55750696dupT								NR_027340.1|NR_027342.1						0	699	-								B2R7H1	RNA	INS	ENST00000455909.1	37																																																																																						0.465	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			4	5						4	5	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	205						7	205	---	---	---	---
