#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
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G	rs551614044	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	196						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597													a|||	234	0.0467252	0.0726	0.0504	5008	,	,		18042	0.0179		0.0298	False		,,,				2504	0.0562					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(586-588)cgT>cgC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296152A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.588T>C	17.37:g.39296152A>G							p.R196R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	587	-			192					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.588T>C	CCDS54125.1																																																																																				0.597	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	28	0	0	0	1	0	4	28				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	70	0	0	0	1	0	7	70				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			8	96	0	0	0	1	0	8	96				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		8	100	0	0	0	1	0	8	100				
PCDHB11	56125	broad.mit.edu	37	5	140580279	140580279	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr5:140580279C>T	ENST00000354757.3	+	1	932	c.932C>T	c.(931-933)aCg>aTg	p.T311M	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTTTGAAACGATTGAGTCA	0.363																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(931-933)aCg>aTg									64.0	69.0	67.0					5																	140580279		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580279C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.932C>T	5.37:g.140580279C>T	ENSP00000346802:p.Thr311Met					PCDHB11_ENST00000536699.1_5'UTR	p.T311M	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	932	+			311			Cadherin 3.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.932C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	5.346	0.249198	0.10130	.	.	ENSG00000197479	ENST00000354757;ENST00000536825	T	0.01838	4.61	2.7	-0.671	0.11381	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	L	0.47078	1.49	0.09310	N	0.999999	B	0.32862	0.387	B	0.38500	0.275	T	0.42548	-0.9445	9	0.52906	T	0.07	.	4.3208	0.11016	0.557:0.2257:0.0:0.2173	.	311	Q9Y5F2	PCDBB_HUMAN	M	311;1	ENSP00000346802:T311M	ENSP00000346802:T311M	T	+	2	0	PCDHB11	140560463	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.731000	0.00805	-0.354000	0.08212	0.467000	0.42956	ACG		0.363	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		75	118	0	0	0	1	0	75	118				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		13	148	0	0	0	1	0	13	148				
LOC150776	150776	broad.mit.edu	37	2	132277686	132277686	+	RNA	SNP	C	C	T	rs9287520	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr2:132277686C>T	ENST00000438378.2	+	0	2325					NR_026922.1																						GGACAGATGGCGGCTCTGTGT	0.647													c|||	1676	0.334665	0.1346	0.4265	5008	,	,		16879	0.6806		0.2197	False		,,,				2504	0.3016					ENST00000438378.2																			0																																																			0							g.chr2:132277686C>T																													2.37:g.132277686C>T								NR_026922.1						0	2325	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.647	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			4	42	0	0	0	1	0	4	42				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	113	0	0	0	1	0	11	113				
CUL2	8453	broad.mit.edu	37	10	35320510	35320510	+	Missense_Mutation	SNP	G	G	A	rs190367917		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr10:35320510G>A	ENST00000374748.1	-	14	1521	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	CUL2_ENST00000374742.1_Missense_Mutation_p.A403V|CUL2_ENST00000602371.1_Missense_Mutation_p.A346V|CUL2_ENST00000537177.1_Missense_Mutation_p.A422V|CUL2_ENST00000374749.3_Missense_Mutation_p.A403V|CUL2_ENST00000374746.1_Missense_Mutation_p.A403V|CUL2_ENST00000374751.3_Missense_Mutation_p.A403V			Q13617	CUL2_HUMAN	cullin 2	403					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATCCCTTTCGCTGACTTCTT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.0					ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1207-1209)gCg>gTg		cullin 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	173.0	144.0	154.0		1208,1265,1247,1208	5.9	1.0	10		154	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CUL2	NM_001198777.1,NM_001198778.1,NM_001198779.1,NM_003591.3	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	403/746,422/765,416/759,403/746	35320510	1,13005	2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35320510G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1208C>T	10.37:g.35320510G>A	ENSP00000363880:p.Ala403Val					CUL2_ENST00000537177.1_Missense_Mutation_p.A422V|CUL2_ENST00000374751.3_Missense_Mutation_p.A403V|CUL2_ENST00000374742.1_Missense_Mutation_p.A403V|CUL2_ENST00000374749.3_Missense_Mutation_p.A403V|CUL2_ENST00000374746.1_Missense_Mutation_p.A403V|CUL2_ENST00000602371.1_Missense_Mutation_p.A346V	p.A403V			Q13617	CUL2_HUMAN			14	1521	-			403					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1208C>T	CCDS7179.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.9	4.872645	0.91587	0.0	1.16E-4	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.87	5.87	0.94306	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	N	0.25992	0.78	0.80722	D	1	P;P;P	0.39831	0.637;0.64;0.69	B;B;B	0.37650	0.138;0.165;0.255	T	0.65965	-0.6040	10	0.38643	T	0.18	-17.2024	20.2009	0.98259	0.0:0.0:1.0:0.0	.	403;422;403	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	403;403;403;403;346;403;422	ENSP00000363883:A403V;ENSP00000363880:A403V;ENSP00000363878:A403V;ENSP00000363881:A403V;ENSP00000363874:A403V;ENSP00000444856:A422V	ENSP00000363874:A403V	A	-	2	0	CUL2	35360516	1.000000	0.71417	0.974000	0.42286	0.730000	0.41778	9.864000	0.99589	2.767000	0.95098	0.591000	0.81541	GCG		0.398	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		58	87	0	0	0	1	0	58	87				
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr					IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		4	75	0	0	0	1	0	4	75				
MEN1	4221	broad.mit.edu	37	11	64572151	64572151	+	Silent	SNP	C	C	T			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr11:64572151C>T	ENST00000337652.1	-	10	2006	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MEN1_ENST00000377316.2_Silent_p.K441K|MEN1_ENST00000443283.1_Silent_p.K501K|MEN1_ENST00000394376.1_Silent_p.K501K|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Silent_p.K501K|MEN1_ENST00000315422.4_Silent_p.K496K|MEN1_ENST00000377313.1_Silent_p.K501K|MEN1_ENST00000377321.1_Silent_p.K461K|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.K496K|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000312049.6_Silent_p.K496K	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	501					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGCTGGCTTCTTGGGCGGCG	0.756			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1501-1503)aaG>aaA		multiple endocrine neoplasia I							6.0	7.0	7.0					11																	64572151		2063	4079	6142	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572151C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1503G>A	11.37:g.64572151C>T						MEN1_ENST00000443283.1_Silent_p.K501K|MEN1_ENST00000377313.1_Silent_p.K501K|MEN1_ENST00000377326.3_Silent_p.K496K|MEN1_ENST00000315422.4_Silent_p.K496K|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Silent_p.K461K|MEN1_ENST00000394374.2_Silent_p.K501K|MEN1_ENST00000377316.2_Silent_p.K441K|MEN1_ENST00000312049.6_Silent_p.K496K|MEN1_ENST00000394376.1_Silent_p.K501K	p.K501K	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	2006	-			501					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1503G>A	CCDS8083.1																																																																																				0.756	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			4	39	0	0	0	1	0	4	39				
TNFRSF1A	7132	broad.mit.edu	37	12	6438738	6438738	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr12:6438738G>A	ENST00000162749.2	-	10	1407	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R327C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	370	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCCTTCCAGCGCAACGGGGGC	0.706																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1108-1110)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 1A							16.0	17.0	17.0					12																	6438738		2201	4296	6497	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438738G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1108C>T	12.37:g.6438738G>A	ENSP00000162749:p.Arg370Cys					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R327C	p.R370C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1407	-			370			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1108C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799479	0.90538	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85629	-2.01;-2.01	4.88	4.88	0.63580	Death (3);DEATH-like (2);	0.358613	0.29737	N	0.011333	D	0.90393	0.6993	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91348	0.5102	10	0.87932	D	0	-40.5466	15.8802	0.79197	0.0:0.0:1.0:0.0	.	327;370	F5H061;P19438	.;TNR1A_HUMAN	C	370;327	ENSP00000162749:R370C;ENSP00000438343:R327C	ENSP00000162749:R370C	R	-	1	0	TNFRSF1A	6308999	1.000000	0.71417	0.943000	0.38184	0.956000	0.61745	5.989000	0.70587	2.406000	0.81754	0.561000	0.74099	CGC		0.706	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		3	37	0	0	0	1	0	3	37				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	114	0	0	0	1	0	6	114				
H3F3AP4	440926	broad.mit.edu	37	2	175585095	175585095	+	RNA	DEL	T	T	-	rs112662182	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr2:175585095delT	ENST00000442996.1	+	0	217																											AAAAAAAAAATTTCTCTTCTT	0.373																																						ENST00000442996.1																			0																																																			0							g.chr2:175585095delT																													2.37:g.175585095delT														0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.373	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	7						4	7	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	168						9	168	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		6	10						6	10	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-	rs548021046	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	5						3	5	---	---	---	---
PGM5P2	595135	broad.mit.edu	37	9	69127140	69127140	+	RNA	DEL	A	A	-	rs200327551|rs374684229	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr9:69127140delA	ENST00000591037.1	-	0	430					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		TAAACCATCCAAAAAAAAAAA	0.403													|||unknown(HR)	1282	0.25599	0.3495	0.2709	5008	,	,		15108	0.2222		0.2634	False		,,,				2504	0.1462					ENST00000591037.1																			0																																																			0							g.chr9:69127140delA	BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69127140delA								NR_002836.2						0	430	-									RNA	DEL	ENST00000591037.1	37																																																																																						0.403	PGM5P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460890.1	NR_002836		8	87						8	87	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs375739374|rs542749146		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396																																						ENST00000548261.1																			0																																																			0							g.chr14:20138373_20138374insAAG																													14.37:g.20138374_20138376dupAAG														0	391	+									RNA	INS	ENST00000548261.1	37																																																																																						0.396	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	20						7	20	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						ENST00000261609.7																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.G279V(1)|p.G279fs*25(1)	autonomic_ganglia(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(835-837)gafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs						p.G279fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	944	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	156						7	156	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1318-1323)gcc>g		TRIO and F-actin binding protein				8,3622		3,2,1810						-5.6	0.0			78	10,7846		3,4,3921	no	coding	TRIOBP	NM_001039141.2		6,6,5731	A1A1,A1R,RR		0.1273,0.2204,0.1567				18,11468				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119882_38119884delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1319_1321delCCT	22.37:g.38119885_38119887delCCT	ENSP00000384312:p.Ser442del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS440del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1574_1576	+	Melanoma(58;0.0574)		440					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1319_1321delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			9	250						9	250	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	12						6	12	---	---	---	---
