#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
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	40	0	0	0	1	0	5	40				
CCNDBP1	23582	broad.mit.edu	37	15	43483811	43483811	+	Silent	SNP	G	G	C			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr15:43483811G>C	ENST00000300213.4	+	8	1040	c.798G>C	c.(796-798)ggG>ggC	p.G266G	CCNDBP1_ENST00000356633.5_Silent_p.G105G|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	266	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CAGAGAATGGGAAGAAGGATC	0.502																																						ENST00000300213.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(796-798)ggG>ggC		cyclin D-type binding-protein 1							98.0	88.0	92.0					15																	43483811		2203	4299	6502	SO:0001819	synonymous_variant	23582				cell cycle	cytoplasm|nucleus	protein binding	g.chr15:43483811G>C	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.798G>C	15.37:g.43483811G>C						EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G	p.G266G	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN		GBM - Glioblastoma multiforme(94;8.42e-07)	8	1040	+		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	266			Interaction with RPLP0.|Interaction with TCF3.		A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	c.798G>C	CCDS10092.1																																																																																				0.502	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		19	21	0	0	0	1	0	19	21				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	203	1	0	0.248553	1	0.248553	6	203				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	284802							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	121	0	0	0	1	0	9	121				
RP11-640M9.2	0	broad.mit.edu	37	1	144598589	144598589	+	RNA	SNP	C	C	T			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:144598589C>T	ENST00000419820.1	+	0	517																											CGTCCCTTACCGTCCTCCTGA	0.547																																						ENST00000419820.1																			0																																																			0							g.chr1:144598589C>T																													1.37:g.144598589C>T														0	517	+									RNA	SNP	ENST00000419820.1	37																																																																																						0.547	RP11-640M9.2-011	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000038365.1			5	5	0	0	0	1	0	5	5				
ZNF385D	79750	broad.mit.edu	37	3	21462776	21462776	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:21462776G>A	ENST00000281523.2	-	8	1636	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	373						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGGAGTGCCGGAGGAAGCGC	0.562																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1117-1119)cCg>cTg		zinc finger protein 385D							57.0	55.0	55.0					3																	21462776		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462776G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1118C>T	3.37:g.21462776G>A	ENSP00000281523:p.Pro373Leu						p.P373L	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1636	-			373						Missense_Mutation	SNP	ENST00000281523.2	37	c.1118C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714033	0.48622	.	.	ENSG00000151789	ENST00000281523	T	0.34072	1.38	5.8	4.91	0.64330	.	0.299818	0.37715	N	0.001979	T	0.29256	0.0728	L	0.39245	1.2	0.21445	N	0.999689	B	0.33857	0.429	B	0.17433	0.018	T	0.21484	-1.0244	10	0.72032	D	0.01	-39.3112	16.1282	0.81408	0.0:0.0:0.8653:0.1347	.	373	Q9H6B1	Z385D_HUMAN	L	373	ENSP00000281523:P373L	ENSP00000281523:P373L	P	-	2	0	ZNF385D	21437780	1.000000	0.71417	0.141000	0.22245	0.918000	0.54935	4.473000	0.60196	1.412000	0.46977	0.557000	0.71058	CCG		0.562	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		7	24	0	0	0	1	0	7	24				
NR0B2	8431	broad.mit.edu	37	1	27238482	27238482	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:27238482C>A	ENST00000254227.3	-	2	653	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	210	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCTTGGGCTGCTGGGCAC	0.632																																						ENST00000254227.3																			0				NS(1)|large_intestine(1)|lung(3)	5						c.(628-630)Gcc>Tcc		nuclear receptor subfamily 0, group B, member 2							100.0	102.0	101.0					1																	27238482		2203	4300	6503	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27238482C>A	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.628G>T	1.37:g.27238482C>A	ENSP00000254227:p.Ala210Ser						p.A210S	NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	653	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	210			Ligand-binding (By similarity).		F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.628G>T	CCDS291.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626583	0.28978	.	.	ENSG00000131910	ENST00000254227	D	0.96104	-3.91	6.04	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.392944	0.32190	N	0.006444	D	0.86447	0.5935	N	0.02011	-0.69	0.25419	N	0.988289	B	0.06786	0.001	B	0.04013	0.001	T	0.77490	-0.2568	10	0.41790	T	0.15	-14.4401	12.746	0.57281	0.0:0.9237:0.0:0.0763	.	210	Q15466	NR0B2_HUMAN	S	210	ENSP00000254227:A210S	ENSP00000254227:A210S	A	-	1	0	NR0B2	27111069	0.995000	0.38212	1.000000	0.80357	0.656000	0.38851	3.334000	0.52097	1.539000	0.49286	0.561000	0.74099	GCC		0.632	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			3	33	1	0	0.004672	1	0.004964	3	33				
KIR3DL1	3811	broad.mit.edu	37	19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	rs201105125	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	402					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													.|||	12	0.00239617	0.0038	0.0014	5008	,	,		15574	0.0		0.005	False		,,,				2504	0.001					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1204-1206)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							269.0	244.0	253.0					19																	55341599		2171	4171	6342	SO:0001583	missense	3811							g.chr19:55341599G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1204G>A	19.37:g.55341599G>A	ENSP00000375608:p.Asp402Asn					KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N	p.D402N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1237	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1204G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000930	0.07819	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00470	7.3;7.2;7.3;7.2;7.28	0.719	-0.453	0.12201	.	.	.	.	.	T	0.00300	0.0009	L	0.31476	0.935	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.14578	0.011;0.008;0.007	T	0.35051	-0.9804	8	0.42905	T	0.14	.	.	.	.	.	385;307;402	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	402;385;380;402;385;307	ENSP00000443350:D402N;ENSP00000442355:D385N;ENSP00000375608:D402N;ENSP00000326868:D385N;ENSP00000350901:D307N	ENSP00000326868:D385N	D	+	1	0	KIR3DL1	60033411	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.526000	0.22971	-0.130000	0.11599	0.184000	0.17185	GAT		0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		4	159	0	0	0	1	0	4	159				
RP1L1	94137	broad.mit.edu	37	8	10480359	10480359	+	Missense_Mutation	SNP	C	C	T	rs557203614		TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr8:10480359C>T	ENST00000382483.3	-	2	576	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	118	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCTGTGGCCGGCCTGGTCC	0.637																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(352-354)cGg>cAg		retinitis pigmentosa 1-like 1							16.0	17.0	17.0					8																	10480359		1943	4113	6056	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480359C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.353G>A	8.37:g.10480359C>T	ENSP00000371923:p.Arg118Gln					RP1L1_ENST00000329335.3_5'UTR	p.R118Q	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	576	-			118					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.353G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	9.610	1.131145	0.21041	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	4.32	-2.03	0.07365	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.17979	0.02	T	0.46428	-0.9192	9	0.24483	T	0.36	-0.6815	2.4179	0.04440	0.1121:0.383:0.1216:0.3833	.	118	A6NKC6	.	Q	118	ENSP00000371923:R118Q	ENSP00000371923:R118Q	R	-	2	0	RP1L1	10517769	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.567000	0.05916	-0.382000	0.07870	0.556000	0.70494	CGG		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	18	0	0	0	1	0	9	18				
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	A			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:52812034G>A	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000542827.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.e2+1		inter-alpha-trypsin inhibitor heavy chain 1							118.0	108.0	112.0					3																	52812034		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812034G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.138+1G>A	3.37:g.52812034G>A						ITIH1_ENST00000542827.1_Splice_Site		NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	2	162	+								A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37		CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164318	0.57476	.	.	ENSG00000055957	ENST00000542827;ENST00000273283	.	.	.	4.72	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7005	0.45924	0.0916:0.0:0.9084:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITIH1	52787074	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	2.924000	0.48876	1.329000	0.45376	0.655000	0.94253	.		0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Intron	26	48	0	0	0	1	0	26	48				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	4						3	4	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			4	7						4	7	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:154842199_154842200insGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGC	c.(241-243)cca>cAGCca	p.80_81insQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241dupAGC	1.37:g.154842206_154842208dupGCT	ENSP00000271915:p.Gln80_Gln80dup						p.80_81insS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		4	6						4	6	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400918_195400919insT	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.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	5						3	5	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	De_novo_Start_OutOfFrame	INS	-	-	AT	rs17204758	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)																												ENST00000360004.5																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10								major histocompatibility complex, class II, DR beta 1																																						3123							g.chr6:32557568_32557569insAT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.-50->AT	6.37:g.32557568_32557569insAT		Multiple Myeloma(14;0.17)						NM_002124.3	NP_002115.2					0	56_57	-								P01914|Q9MYF5	Translation_Start_Site	INS	ENST00000360004.5	37		CCDS47409.1																																																																																				0.540	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		2	4						2	4	---	---	---	---
CXXC1P1	392459	broad.mit.edu	37	X	47578328	47578329	+	RNA	INS	-	-	T			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chrX:47578328_47578329insT	ENST00000483225.1	+	0	195					NR_033924.1				CXXC finger protein 1 pseudogene 1																		CAAAGCTGCCGTTTTTTTGTGT	0.495																																						ENST00000483225.1																			0																																																			392459							g.chrX:47578328_47578329insT	AK094108		Xp11.3	2011-12-01	2011-12-01	2010-07-02	ENSG00000187893	ENSG00000187893			27864	pseudogene	pseudogene			"""chromosome X open reading frame 25"", ""non-protein coding RNA 236"", ""CXXC finger 1 pseudogene 1"""	CXorf25, NCRNA00236		14702039	Standard	NR_033924		Approved	FLJ36789	uc004dio.1		OTTHUMG00000021450		X.37:g.47578335_47578335dupT								NR_033924.1						0	195	+									RNA	INS	ENST00000483225.1	37																																																																																						0.495	CXXC1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000056433.2			2	4						2	4	---	---	---	---
