#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
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	3	1	0	1.23904e-05	1	1.45145e-05	2	3				
MLLT1	4298	broad.mit.edu	37	19	6230647	6230647	+	Silent	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:6230647G>A	ENST00000252674.7	-	4	517	c.354C>T	c.(352-354)cgC>cgT	p.R118R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	118					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCTTCTCGCAGCGCAGGTGGT	0.632			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(352-354)cgC>cgT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							158.0	157.0	157.0					19																	6230647		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230647G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.354C>T	19.37:g.6230647G>A							p.R118R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			4	517	-			118					Q14768	Silent	SNP	ENST00000252674.7	37	c.354C>T	CCDS12160.1																																																																																				0.632	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	97	0	0	0	1	0	3	97				
SERPINB4	6318	broad.mit.edu	37	18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	rs267605228		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61309020C>T	ENST00000341074.5	-	4	440	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	109					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G109*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTCTTTTCTCCGAAGAGCTTG	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20596	0.0		0.0	False		,,,				2504	0.0					ENST00000341074.5																			1	Substitution - Nonsense(1)	p.G109*(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(325-327)Gga>Aga		serpin peptidase inhibitor, clade B (ovalbumin), member 4							237.0	219.0	225.0					18																	61309020		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61309020C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.325G>A	18.37:g.61309020C>T	ENSP00000343445:p.Gly109Arg					SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	p.G109R	NM_002974.2	NP_002965.1					4	440	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.325G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220669	0.58560	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84873	-1.91;-1.91	3.76	1.93	0.25924	Serpin domain (3);	1.026050	0.07803	N	0.956916	D	0.91925	0.7443	M	0.92169	3.28	0.30751	N	0.745066	D;D	0.61080	0.975;0.989	P;P	0.55508	0.541;0.777	D	0.83714	0.0189	10	0.72032	D	0.01	.	8.7289	0.34487	0.0:0.8059:0.0:0.1941	.	109;109	P48594;Q9BYF7	SPB4_HUMAN;.	R	109	ENSP00000343445:G109R;ENSP00000348795:G109R	ENSP00000343445:G109R	G	-	1	0	SERPINB4	59460000	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	0.399000	0.20916	0.373000	0.24621	0.603000	0.83216	GGA		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		74	116	0	0	0	1	0	74	116				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	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	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	16	0	0	0	1	0	3	16				
LYZL2	119180	broad.mit.edu	37	10	30915131	30915131	+	Silent	SNP	G	G	A	rs374503421		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr10:30915131G>A	ENST00000375318.2	-	3	395	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	67					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CGATGCTGCCGTCATCCAGGA	0.587																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(337-339)gaC>gaT		lysozyme-like 2		G		0,4406		0,0,2203	157.0	118.0	131.0		339	-4.5	0.0	10		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYZL2	NM_183058.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/195	30915131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915131G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.339C>T	10.37:g.30915131G>A							p.D113D	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	395	-		Prostate(175;0.151)	67					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.339C>T	CCDS7167.2																																																																																				0.587	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		24	53	0	0	0	1	0	24	53				
ZNF8	7554	broad.mit.edu	37	19	58806382	58806382	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:58806382G>A	ENST00000196548.5	+	4	1339	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	ZNF8_ENST00000608843.1_Missense_Mutation_p.G403E|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	403					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AACCACTGCGGGAAGGGCTTC	0.602																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(1207-1209)gGg>gAg		zinc finger protein 8							61.0	58.0	59.0					19																	58806382		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806382G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1208G>A	19.37:g.58806382G>A	ENSP00000196548:p.Gly403Glu					AC010642.1_ENST00000591325.1_3'UTR	p.G403E	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1339	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	403					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1208G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992736	0.74703	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.07114	3.22	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000133	T	0.15305	0.0369	L	0.37850	1.14	0.42390	D	0.992524	D	0.76494	0.999	P	0.60068	0.868	T	0.00254	-1.1874	10	0.59425	D	0.04	-17.7075	10.7866	0.46409	0.0888:0.0:0.9112:0.0	.	403	P17098	ZNF8_HUMAN	E	403;118	ENSP00000196548:G403E	ENSP00000196548:G403E	G	+	2	0	ZNF8	63498194	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.919000	0.56439	2.671000	0.90904	0.644000	0.83932	GGG		0.602	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		3	129	0	0	0	1	0	3	129				
RAD51	5888	broad.mit.edu	37	15	41022057	41022057	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr15:41022057G>A	ENST00000267868.3	+	9	1049	c.781G>A	c.(781-783)Gta>Ata	p.V261I	RAD51_ENST00000530766.1_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.V164I|RAD51_ENST00000532743.1_Missense_Mutation_p.V262I|RAD51_ENST00000382643.3_Missense_Mutation_p.V262I|RAD51_ENST00000423169.2_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	261					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		TCAGTTTGGTGTAGCAGTGGT	0.443								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(781-783)Gta>Ata	Homologous recombination	RAD51 recombinase							138.0	120.0	126.0					15																	41022057		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41022057G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.781G>A	15.37:g.41022057G>A	ENSP00000267868:p.Val261Ile					RAD51_ENST00000423169.2_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.V164I|RAD51_ENST00000532743.1_Missense_Mutation_p.V262I|RAD51_ENST00000382643.3_Missense_Mutation_p.V262I|RAD51_ENST00000530766.1_Intron	p.V261I	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	9	1049	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	261					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.781G>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194289	0.58017	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.40476	1.03;1.03;1.03	5.03	5.03	0.67393	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.125331	0.53938	D	0.000053	T	0.34106	0.0886	N	0.16743	0.435	0.80722	D	1	B;B	0.18863	0.031;0.031	B;B	0.33960	0.173;0.075	T	0.10965	-1.0607	10	0.18710	T	0.47	-16.3744	18.5504	0.91062	0.0:0.0:1.0:0.0	.	262;261	Q6ZNA8;Q06609	.;RAD51_HUMAN	I	164;261;262;262	ENSP00000267868:V261I;ENSP00000433924:V262I;ENSP00000372088:V262I	ENSP00000267868:V261I	V	+	1	0	RAD51	38809349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.605000	0.88082	0.563000	0.77884	GTA		0.443	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		3	93	0	0	0	1	0	3	93				
POTEC	388468	broad.mit.edu	37	18	14543133	14543133	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:14543133C>A	ENST00000358970.5	-	1	12	c.13G>T	c.(13-15)Gtt>Ttt	p.V5F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	5										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTGAACAAACCTCAGTCACC	0.552																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(13-15)Gtt>Ttt		POTE ankyrin domain family, member C							106.0	89.0	94.0					18																	14543133		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543133C>A	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.13G>T	18.37:g.14543133C>A	ENSP00000351856:p.Val5Phe					POTEC_ENST00000389891.4_5'UTR	p.V5F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	12	-			5						Missense_Mutation	SNP	ENST00000358970.5	37	c.13G>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648459	0.29336	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.34667	1.35	1.02	-0.15	0.13416	.	.	.	.	.	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	1	P	0.52170	0.951	P	0.46825	0.528	T	0.15809	-1.0424	9	0.87932	D	0	.	4.5872	0.12287	0.0:0.5859:0.4141:0.0	.	5	B2RU33	POTEC_HUMAN	F	5	ENSP00000351856:V5F	ENSP00000351856:V5F	V	-	1	0	POTEC	14533133	0.009000	0.17119	0.002000	0.10522	0.014000	0.08584	0.732000	0.26072	-0.073000	0.12842	0.197000	0.17608	GTT		0.552	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		31	52	1	0	1.465e-08	1	1.76662e-08	31	52				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.Q394Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	50	0	0	0	1	0	3	50				
LOC101927209	101927209	broad.mit.edu	37	1	142713931	142713931	+	lincRNA	SNP	T	T	A	rs75994571		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr1:142713931T>A	ENST00000610091.1	-	0	1727																											AAATAACATATCATGATTACC	0.303																																						ENST00000369381.2																			0																																																			0							g.chr1:142713931T>A																													1.37:g.142713931T>A														0	674	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.303	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	22	0	0	0	1	0	6	22				
CCNT1	904	broad.mit.edu	37	12	49087277	49087277	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr12:49087277T>C	ENST00000261900.3	-	9	1942	c.1720A>G	c.(1720-1722)Agg>Ggg	p.R574G		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	574	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GAGGGTCCCCTTTTACGAGTA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1720-1722)Agg>Ggg		cyclin T1							79.0	82.0	81.0					12																	49087277		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087277T>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1720A>G	12.37:g.49087277T>C	ENSP00000261900:p.Arg574Gly						p.R574G	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1942	-			574			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1720A>G	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731737	0.48939	.	.	ENSG00000129315	ENST00000261900	T	0.27890	1.64	4.96	3.72	0.42706	.	0.048574	0.85682	D	0.000000	T	0.35595	0.0937	N	0.17082	0.46	0.49687	D	0.999815	D	0.76494	0.999	D	0.78314	0.991	T	0.23691	-1.0181	10	0.72032	D	0.01	-12.1937	10.0406	0.42155	0.0:0.0:0.2965:0.7035	.	574	O60563	CCNT1_HUMAN	G	574	ENSP00000261900:R574G	ENSP00000261900:R574G	R	-	1	2	CCNT1	47373544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.832000	0.39151	1.996000	0.58369	0.459000	0.35465	AGG		0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		3	141	0	0	0	1	0	3	141				
ATF5	22809	broad.mit.edu	37	19	50435928	50435928	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50435928T>C	ENST00000423777.2	+	3	805	c.428T>C	c.(427-429)cTg>cCg	p.L143P	NUP62_ENST00000422090.2_5'Flank|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.L143P|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000352066.3_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	143	Interaction with PTP4A1. {ECO:0000250}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCCTCCCCCTGTCCCTCCCC	0.657																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(427-429)cTg>cCg		activating transcription factor 5							6.0	6.0	6.0					19																	50435928		2123	4096	6219	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50435928T>C	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.428T>C	19.37:g.50435928T>C	ENSP00000396954:p.Leu143Pro					ATF5_ENST00000595125.1_Missense_Mutation_p.L143P|CTC-326K19.6_ENST00000451973.1_Intron	p.L143P	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	805	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	143			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.428T>C	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431446	0.12045	.	.	ENSG00000169136	ENST00000423777	T	0.25250	1.81	3.87	-0.808	0.10868	.	0.418950	0.18784	U	0.131255	T	0.12475	0.0303	L	0.29908	0.895	0.20764	N	0.999859	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	10	0.30078	T	0.28	-0.2222	0.8661	0.01204	0.1632:0.2959:0.1675:0.3734	.	143	Q9Y2D1	ATF5_HUMAN	P	143	ENSP00000396954:L143P	ENSP00000396954:L143P	L	+	2	0	ATF5	55127740	0.389000	0.25205	0.000000	0.03702	0.003000	0.03518	2.290000	0.43531	-0.507000	0.06549	0.368000	0.22195	CTG		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			6	20	0	0	0	1	0	6	20				
POLQ	10721	broad.mit.edu	37	3	121179063	121179063	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:121179063G>A	ENST00000264233.5	-	25	7114	c.6986C>T	c.(6985-6987)gCt>gTt	p.A2329V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2329					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGTAGTCAGCAGCCAGTAT	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6985-6987)gCt>gTt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							75.0	71.0	72.0					3																	121179063		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121179063G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6986C>T	3.37:g.121179063G>A	ENSP00000264233:p.Ala2329Val						p.A2329V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	25	7114	-			2329					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6986C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532622	0.85812	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97209	-4.29	5.6	5.6	0.85130	DNA-directed DNA polymerase, family A, palm domain (2);	0.111909	0.64402	D	0.000011	D	0.97980	0.9335	M	0.63843	1.955	0.42902	D	0.994235	D;D	0.71674	0.996;0.998	P;D	0.68039	0.873;0.955	D	0.98083	1.0405	10	0.45353	T	0.12	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	2329;1501	O75417;O75417-2	DPOLQ_HUMAN;.	V	1952;2329;2465	ENSP00000264233:A2329V	ENSP00000264233:A2329V	A	-	2	0	POLQ	122661753	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.217000	0.77982	2.630000	0.89119	0.591000	0.81541	GCT		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		3	67	0	0	0	1	0	3	67				
BCL2L12	83596	broad.mit.edu	37	19	50170383	50170383	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50170383C>G	ENST00000246785.3	+	3	725	c.467C>G	c.(466-468)tCt>tGt	p.S156C	IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000600911.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	156					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CGGCCTTGCTCTCTGCCCATC	0.567																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(466-468)tCt>tGt		BCL2-like 12 (proline rich)							111.0	123.0	119.0					19																	50170383		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50170383C>G	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.467C>G	19.37:g.50170383C>G	ENSP00000246785:p.Ser156Cys					BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C	p.S156C	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	3	725	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	156					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.467C>G	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347528	0.61183	.	.	ENSG00000126453	ENST00000246785;ENST00000441864	T;T	0.50813	0.73;0.73	3.53	2.49	0.30216	.	0.436858	0.17115	N	0.186458	T	0.38825	0.1055	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.53450	0.726;0.726	T	0.11842	-1.0571	10	0.35671	T	0.21	-11.9185	6.1719	0.20422	0.0:0.8573:0.0:0.1427	.	155;156	Q3SY13;Q9HB09	.;B2L12_HUMAN	C	156;155	ENSP00000246785:S156C;ENSP00000393803:S155C	ENSP00000246785:S156C	S	+	2	0	BCL2L12	54862195	0.985000	0.35326	0.991000	0.47740	0.942000	0.58702	0.842000	0.27627	1.041000	0.40125	0.561000	0.74099	TCT		0.567	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		20	343	0	0	0	1	0	20	343				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	31	0	0	0	1	0	3	31				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	57	0	0	0	1	0	4	57				
CLIC6	54102	broad.mit.edu	37	21	36088676	36088676	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr21:36088676A>G	ENST00000360731.3	+	7	2011	c.2011A>G	c.(2011-2013)Aga>Gga	p.R671G	CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	671	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGGCATCTGGAGATACTTGAA	0.363																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2011-2013)Aga>Gga		chloride intracellular channel 6							144.0	136.0	139.0					21																	36088676		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088676A>G	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2011A>G	21.37:g.36088676A>G	ENSP00000353959:p.Arg671Gly					CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G	p.R671G			Q96NY7	CLIC6_HUMAN			7	2011	+			671			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2011A>G		.	.	.	.	.	.	.	.	.	.	A	18.47	3.630301	0.67015	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	4.68	0.58851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.88241	2.94	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97089	0.9789	10	0.87932	D	0	-3.7579	13.2783	0.60200	0.8677:0.1323:0.0:0.0	.	671;653	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	G	671;653	ENSP00000353959:R671G;ENSP00000290332:R653G	ENSP00000290332:R653G	R	+	1	2	CLIC6	35010546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.403000	0.66338	1.021000	0.39600	0.460000	0.39030	AGA		0.363	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			6	93	0	0	0	1	0	6	93				
PIAS2	9063	broad.mit.edu	37	18	44470887	44470887	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:44470887G>A	ENST00000585916.1	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	52					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AATCTGAACCGCAGGGCTGCA	0.448																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(154-156)gCg>gTg		protein inhibitor of activated STAT, 2							66.0	68.0	67.0					18																	44470887		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470887G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.155C>T	18.37:g.44470887G>A	ENSP00000465676:p.Ala52Val					PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V|PIAS2_ENST00000545673.1_Intron	p.A52V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	154	-			52					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.155C>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606423	0.46527	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.34275	1.37	6.06	5.19	0.71726	DNA-binding SAP (1);	0.110818	0.64402	N	0.000012	T	0.29976	0.0750	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25169	0.119;0.008;0.029;0.007	B;B;B;B	0.23018	0.043;0.008;0.029;0.013	T	0.04565	-1.0942	10	0.25106	T	0.35	-4.3726	15.1526	0.72713	0.0671:0.0:0.9329:0.0	.	56;52;52;52	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	52;52;48;52	ENSP00000317163:A52V	ENSP00000262161:A52V	A	-	2	0	PIAS2	42724885	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.550000	0.73905	1.578000	0.49821	0.650000	0.86243	GCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		3	53	0	0	0	1	0	3	53				
SERPINB4	6318	broad.mit.edu	37	18	61310686	61310686	+	Silent	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61310686G>A	ENST00000341074.5	-	2	241	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SERPINB4_ENST00000356424.6_Silent_p.L42L	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	42					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGCTCCTAAGAGGACCATCC	0.433																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(124-126)ctC>ctT		serpin peptidase inhibitor, clade B (ovalbumin), member 4							240.0	209.0	220.0					18																	61310686		2203	4300	6503	SO:0001819	synonymous_variant	6318							g.chr18:61310686G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.126C>T	18.37:g.61310686G>A						SERPINB4_ENST00000356424.6_Silent_p.L42L	p.L42L	NM_002974.2	NP_002965.1					2	241	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.126C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	2.169	-0.390398	0.04932	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.83	-2.98	0.05513	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	1.4697	0.02413	0.3835:0.2499:0.2466:0.12	.	.	.	.	F	44	.	.	S	-	2	0	SERPINB4	59461666	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.891000	0.00709	-0.745000	0.04772	-0.442000	0.05670	TCT		0.433	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		3	149	0	0	0	1	0	3	149				
ESPN	83715	broad.mit.edu	37	1	6500762	6500762	+	Missense_Mutation	SNP	G	G	A	rs200602012		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr1:6500762G>A	ENST00000377828.1	+	4	920	c.752G>A	c.(751-753)gGc>gAc	p.G251D	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	251					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCGAGCCGCGGCCACACCAAG	0.726																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(751-753)gGc>gAc		espin							5.0	6.0	5.0					1																	6500762		1942	3927	5869	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6500762G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.752G>A	1.37:g.6500762G>A	ENSP00000367059:p.Gly251Asp						p.G251D	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	4	920	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	251					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.752G>A	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650081	0.87958	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.72394	-0.65;0.89	3.84	3.84	0.44239	Ankyrin repeat-containing domain (5);	0.233607	0.34959	N	0.003544	T	0.81772	0.4893	M	0.80982	2.52	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.83857	0.0266	10	0.54805	T	0.06	-5.9744	12.6418	0.56714	0.0:0.0:1.0:0.0	.	251	B1AK53	ESPN_HUMAN	D	251;36	ENSP00000367059:G251D;ENSP00000401793:G36D	ENSP00000367059:G251D	G	+	2	0	ESPN	6423349	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.972000	0.93424	1.989000	0.58080	0.430000	0.28490	GGC		0.726	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		3	6	0	0	0	1	0	3	6				
GPR83	10888	broad.mit.edu	37	11	94129622	94129622	+	Silent	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr11:94129622G>A	ENST00000243673.2	-	2	627	c.456C>T	c.(454-456)taC>taT	p.Y152Y	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	152					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGTGAGCAGTACTGGGCAA	0.552																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(454-456)taC>taT		G protein-coupled receptor 83							169.0	123.0	138.0					11																	94129622		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94129622G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.456C>T	11.37:g.94129622G>A						GPR83_ENST00000539203.2_Intron	p.Y152Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			2	627	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	152					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.456C>T	CCDS8297.1																																																																																				0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		3	117	0	0	0	1	0	3	117				
IGHG1	3500	broad.mit.edu	37	14	106204137	106204137	+	RNA	SNP	T	T	C	rs587721044	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr14:106204137T>C	ENST00000390548.2	-	0	1161							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TAGTCGGGGATGATGGTCTGC	0.657													.|||	2	0.000399361	0.0015	0.0	5008	,	,		10387	0.0		0.0	False		,,,				2504	0.0					ENST00000390548.2																			0																				84.0	88.0	87.0					14																	106204137		858	1989	2847			0							g.chr14:106204137T>C	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106204137T>C														0	1161	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.657	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		3	135	0	0	0	1	0	3	135				
IGHG3	3502	broad.mit.edu	37	14	106236827	106236827	+	RNA	SNP	G	G	T	rs370664311		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr14:106236827G>T	ENST00000390551.2	-	0	380							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTGGGCACCGTGGGCACGGG	0.637																																						ENST00000390551.2																			0															G		5,3919		0,5,1957	129.0	154.0	146.0			0.1	0.1	14		146	0,8286		0,0,4143	no	intergenic				0,5,6100	TT,TG,GG		0.0,0.1274,0.041			106236827	5,12205	1962	4143	6105			0							g.chr14:106236827G>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236827G>T														0	380	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	195	1	0	0.000602214	1	0.000667319	4	195				
SPHKAP	80309	broad.mit.edu	37	2	228882979	228882979	+	Missense_Mutation	SNP	G	G	A	rs145565567		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr2:228882979G>A	ENST00000392056.3	-	7	2637	c.2591C>T	c.(2590-2592)aCg>aTg	p.T864M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T864M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	864						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T864M(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCTGACCGTTGGGGACCT	0.483																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.T864M(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2590-2592)aCg>aTg		SPHK1 interactor, AKAP domain containing		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	621.0	590.0	601.0		2591,2591	2.5	0.0	2	dbSNP_134	601	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	864/1701,864/1672	228882979	3,13003	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882979G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2591C>T	2.37:g.228882979G>A	ENSP00000375909:p.Thr864Met					SPHKAP_ENST00000344657.5_Missense_Mutation_p.T864M	p.T864M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2637	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	864					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2591C>T	CCDS46537.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	1.091	-0.664030	0.03428	2.27E-4	2.33E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12465	2.68;2.68	6.17	2.45	0.29901	.	1.670430	0.02349	N	0.075676	T	0.14056	0.0340	M	0.63428	1.95	0.09310	N	1	P;P	0.35226	0.491;0.481	B;B	0.23419	0.036;0.046	T	0.24512	-1.0158	10	0.42905	T	0.14	.	3.007	0.06032	0.1967:0.1209:0.5573:0.1251	.	864;864	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	864	ENSP00000375909:T864M;ENSP00000339886:T864M	ENSP00000339886:T864M	T	-	2	0	SPHKAP	228591223	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.133000	0.15912	0.187000	0.20147	0.655000	0.94253	ACG		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	157	0	0	0	1	0	4	157				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	28	0	0	0	1	0	4	28				
TBC1D14	57533	broad.mit.edu	37	4	7032081	7032081	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr4:7032081C>T	ENST00000409757.4	+	14	2168	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|RP11-367J11.2_ENST00000500031.1_RNA|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	682					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAAAGACAGCCGGGAAATGGA	0.577																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(2044-2046)Cgg>Tgg		TBC1 domain family, member 14							95.0	85.0	88.0					4																	7032081		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7032081C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.2044C>T	4.37:g.7032081C>T	ENSP00000386921:p.Arg682Trp					TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W	p.R682W	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			14	2168	+			682					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.2044C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512988	0.64522	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.08896	3.45;3.45;3.43;3.45;3.04	5.01	2.31	0.28768	.	0.220514	0.31312	N	0.007861	T	0.18383	0.0441	L	0.51422	1.61	0.45791	D	0.998671	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.74023	0.963;0.928;0.982	T	0.00379	-1.1777	10	0.49607	T	0.09	-17.0223	8.1902	0.31363	0.2797:0.6461:0.0:0.0742	.	329;402;682	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	W	682;682;454;402;329	ENSP00000404041:R682W;ENSP00000386921:R682W;ENSP00000386343:R454W;ENSP00000388886:R402W;ENSP00000405875:R329W	ENSP00000386921:R682W	R	+	1	2	TBC1D14	7082982	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.502000	0.35704	0.286000	0.22352	-0.324000	0.08512	CGG		0.577	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		29	58	0	0	0	1	0	29	58				
TRAF1	7185	broad.mit.edu	37	9	123673658	123673658	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr9:123673658C>A	ENST00000373887.3	-	6	3284	c.839G>T	c.(838-840)tGc>tTc	p.C280F	TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F|TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	280	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CGACTCATGGCACCGCCTGGT	0.637																																						ENST00000373887.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(838-840)tGc>tTc		TNF receptor-associated factor 1							49.0	42.0	45.0					9																	123673658		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123673658C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.839G>T	9.37:g.123673658C>A	ENSP00000362994:p.Cys280Phe					TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F|TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F	p.C280F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN			6	3284	-			280			MATH.		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.839G>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882024	0.51908	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.41758	0.99;0.99;0.99	4.64	4.64	0.57946	TRAF-type (1);TRAF-like (1);MATH (3);	0.297563	0.33753	N	0.004593	T	0.22820	0.0551	N	0.12182	0.205	0.36665	D	0.878193	B	0.17852	0.024	B	0.11329	0.006	T	0.14952	-1.0454	10	0.09590	T	0.72	-21.8104	12.6316	0.56661	0.1769:0.8231:0.0:0.0	.	280	Q13077	TRAF1_HUMAN	F	280;280;158	ENSP00000362994:C280F;ENSP00000443183:C280F;ENSP00000438583:C158F	ENSP00000362994:C280F	C	-	2	0	TRAF1	122713479	0.903000	0.30736	1.000000	0.80357	0.990000	0.78478	2.013000	0.40942	2.286000	0.76751	0.563000	0.77884	TGC		0.637	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		3	37	1	0	0.004672	1	0.00504084	3	37				
KRT32	3882	broad.mit.edu	37	17	39623409	39623409	+	Missense_Mutation	SNP	G	G	A	rs141134486	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr17:39623409G>A	ENST00000225899.3	-	1	272	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	57	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTGGCTGGCCGGAAGGTGGTG	0.652																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(169-171)Cgg>Tgg		keratin 32		G	TRP/ARG	1,4403		0,1,2201	33.0	38.0	36.0		169	-1.4	1.0	17	dbSNP_134	36	0,8596		0,0,4298	no	missense	KRT32	NM_002278.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	57/449	39623409	1,12999	2202	4298	6500	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39623409G>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.169C>T	17.37:g.39623409G>A	ENSP00000225899:p.Arg57Trp						p.R57W	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			1	272	-		Breast(137;0.000812)	57			Head.			Missense_Mutation	SNP	ENST00000225899.3	37	c.169C>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261679	0.39995	2.27E-4	0.0	ENSG00000108759	ENST00000225899	D	0.82803	-1.65	5.38	-1.44	0.08856	.	0.210759	0.23612	N	0.046338	T	0.73125	0.3547	M	0.65975	2.015	0.36163	D	0.848217	B	0.15719	0.014	B	0.08055	0.003	T	0.59904	-0.7366	10	0.38643	T	0.18	.	1.6355	0.02741	0.1726:0.1283:0.4214:0.2776	.	57	Q14532	K1H2_HUMAN	W	57	ENSP00000225899:R57W	ENSP00000225899:R57W	R	-	1	2	KRT32	36876935	0.003000	0.15002	0.996000	0.52242	0.945000	0.59286	0.015000	0.13355	-0.037000	0.13646	0.563000	0.77884	CGG		0.652	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		3	95	0	0	0	1	0	3	95				
DNASE1L3	1776	broad.mit.edu	37	3	58196559	58196559	+	Silent	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:58196559G>A	ENST00000394549.2	-	1	391	c.75C>T	c.(73-75)tcC>tcT	p.S25S	DNASE1L3_ENST00000318316.3_Silent_p.S25S|DNASE1L3_ENST00000483681.1_Silent_p.S25S|DNASE1L3_ENST00000486455.1_Silent_p.S25S	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	25					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGACGTTGAAGGAGCAGATCC	0.577																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(73-75)tcC>tcT		deoxyribonuclease I-like 3							190.0	168.0	175.0					3																	58196559		2203	4300	6503	SO:0001819	synonymous_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196559G>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.75C>T	3.37:g.58196559G>A						DNASE1L3_ENST00000394549.2_Silent_p.S25S|DNASE1L3_ENST00000318316.3_Silent_p.S25S|DNASE1L3_ENST00000486455.1_Silent_p.S25S	p.S25S			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	3	656	-			25					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.75C>T	CCDS2886.1																																																																																				0.577	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		4	166	0	0	0	1	0	4	166				
ATP6V0D2	245972	broad.mit.edu	37	8	87153698	87153698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr8:87153698C>A	ENST00000285393.3	+	4	643	c.501C>A	c.(499-501)tgC>tgA	p.C167*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	167					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCCAAGACTGCATGTCTGAAA	0.348																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(499-501)tgC>tgA		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							128.0	127.0	127.0					8																	87153698		2203	4300	6503	SO:0001587	stop_gained	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87153698C>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.501C>A	8.37:g.87153698C>A	ENSP00000285393:p.Cys167*					CTD-3118D11.2_ENST00000522679.1_RNA	p.C167*	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			4	643	+			167						Nonsense_Mutation	SNP	ENST00000285393.3	37	c.501C>A	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647935	0.67358	.	.	ENSG00000147614	ENST00000285393	.	.	.	5.75	-4.44	0.03557	.	0.184375	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7971	15.8706	0.79117	0.0:0.7017:0.0:0.2983	.	.	.	.	X	167	.	ENSP00000285393:C167X	C	+	3	2	ATP6V0D2	87222814	0.915000	0.31059	0.963000	0.40424	0.286000	0.27126	0.001000	0.13038	-0.732000	0.04856	-0.312000	0.09012	TGC		0.348	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		3	85	1	0	0.014758	1	0.0151269	3	85				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	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			2	4						2	4	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	5						3	5	---	---	---	---
CICP9	100420293	broad.mit.edu	37	10	38742888	38742888	+	lincRNA	DEL	C	C	-			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr10:38742888delC	ENST00000428915.2	+	0	350																											TCAGGATCTGCCCCCCGGGTG	0.617																																						ENST00000428915.2																			0																																																			0							g.chr10:38742888delC																													10.37:g.38742888delC														0	350	+									RNA	DEL	ENST00000428915.2	37																																																																																						0.617	RP11-291L22.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000047653.3			2	4						2	4	---	---	---	---
