#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T	rs202247793		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1570-1572)tCg>tTg		cadherin 6, type 2, K-cadherin (fetal kidney)							94.0	90.0	91.0					5																	31317540		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317540C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1571C>T	5.37:g.31317540C>T	ENSP00000265071:p.Ser524Leu		Somatic				CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	p.S524L	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			10	1836	+			524			Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1571C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518873	0.27211	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.54071	0.59;0.59	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.365840	0.29300	N	0.012543	T	0.48241	0.1489	L	0.49126	1.545	0.49051	D	0.999747	B;B	0.30114	0.269;0.01	B;B	0.26094	0.066;0.008	T	0.43734	-0.9373	10	0.29301	T	0.29	.	18.3208	0.90238	0.0:1.0:0.0:0.0	.	524;524	P55285;P55285-2	CADH6_HUMAN;.	L	469;524	ENSP00000424843:S469L;ENSP00000265071:S524L	ENSP00000265071:S524L	S	+	2	0	CDH6	31353297	0.994000	0.37717	0.871000	0.34182	0.358000	0.29455	3.601000	0.54059	2.621000	0.88768	0.650000	0.86243	TCG		0.403	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		4	152	0	0	0	1	0	4	152				
LRRC15	131578	broad.mit.edu	37	3	194081424	194081424	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr3:194081424G>T	ENST00000347624.3	-	2	434	c.349C>A	c.(349-351)Ccc>Acc	p.P117T	LRRC15_ENST00000428839.1_Missense_Mutation_p.P123T|LRRC15_ENST00000439944.2_Missense_Mutation_p.P123T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	117					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCGATGGGCAGAACCTGC	0.602																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(349-351)Ccc>Acc		leucine rich repeat containing 15							53.0	56.0	55.0					3																	194081424		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081424G>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.349C>A	3.37:g.194081424G>T	ENSP00000306276:p.Pro117Thr		Somatic				LRRC15_ENST00000428839.1_Missense_Mutation_p.P123T|LRRC15_ENST00000439944.2_Missense_Mutation_p.P123T	p.P117T	NM_130830.4	NP_570843.2	WXS	Illumina GAIIx	Phase_I	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	434	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		117					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.349C>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866379	0.72065	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.59224	0.28;3.06;3.06	4.8	4.8	0.61643	.	0.085123	0.50627	D	0.000109	T	0.78097	0.4230	M	0.81614	2.55	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	T	0.80612	-0.1305	10	0.59425	D	0.04	.	18.7514	0.91818	0.0:0.0:1.0:0.0	.	117;123	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	117;123;123	ENSP00000306276:P117T;ENSP00000389128:P123T;ENSP00000413707:P123T	ENSP00000306276:P117T	P	-	1	0	LRRC15	195562719	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	5.249000	0.65427	2.602000	0.87976	0.462000	0.41574	CCC		0.602	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			19	1	1	0	5.3912e-06	1	6.16138e-06	19	1				
SAMD15	161394	broad.mit.edu	37	14	77857522	77857522	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr14:77857522C>A	ENST00000216471.4	+	3	2246	c.1960C>A	c.(1960-1962)Cag>Aag	p.Q654K	SAMD15_ENST00000533095.2_Missense_Mutation_p.Q68K	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	654										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCAGGATTACAGGATTATGC	0.388																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1960-1962)Cag>Aag		sterile alpha motif domain containing 15							82.0	82.0	82.0					14																	77857522		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77857522C>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1960C>A	14.37:g.77857522C>A	ENSP00000216471:p.Gln654Lys		Somatic				SAMD15_ENST00000533095.2_Missense_Mutation_p.Q68K	p.Q654K	NM_001010860.1	NP_001010860.1	WXS	Illumina GAIIx	Phase_I	Q9P1V8	SAM15_HUMAN			3	2246	+			654					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1960C>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892353	0.33442	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.19250	2.16	5.64	-3.32	0.04973	.	.	.	.	.	T	0.14830	0.0358	L	0.36672	1.1	0.09310	N	1	P	0.44734	0.842	B	0.35114	0.196	T	0.25745	-1.0123	9	0.59425	D	0.04	-5.6079	14.7721	0.69688	0.0:0.291:0.6408:0.0682	.	654	Q9P1V8	SAM15_HUMAN	K	68;654	ENSP00000216471:Q654K	ENSP00000216471:Q654K	Q	+	1	0	SAMD15	76927275	0.947000	0.32204	0.928000	0.36995	0.702000	0.40608	-0.176000	0.09811	-0.206000	0.10203	-0.182000	0.12963	CAG		0.388	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		24	22	1	0	9.57634e-11	1	1.17863e-10	24	22				
ATAD3A	55210	broad.mit.edu	37	1	1463226	1463226	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:1463226G>A	ENST00000378755.5	+	14	1727	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A418T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A497T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	545					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCTTAAGCCGGCCACAGAAGG	0.582																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1633-1635)Gcc>Acc		ATPase family, AAA domain containing 3A							93.0	100.0	98.0					1																	1463226		2203	4300	6503	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1463226G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1633G>A	1.37:g.1463226G>A	ENSP00000368030:p.Ala545Thr		Somatic				ATAD3A_ENST00000536055.1_Missense_Mutation_p.A418T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A497T	p.A545T	NM_018188.3	NP_060658.3	WXS	Illumina GAIIx	Phase_I	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	14	1727	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	545					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1633G>A	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.34|16.34	3.095164|3.095164	0.56075|0.56075	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055;ENST00000400830|ENST00000339113	D;D;D|.	0.94650|.	-3.24;-3.11;-3.48|.	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74366|0.74366	0.3707|0.3707	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	B;B|.	0.32731|.	0.382;0.382|.	B;B|.	0.35607|.	0.15;0.206|.	T|T	0.76318|0.76318	-0.3003|-0.3003	10|5	0.38643|.	T|.	0.18|.	.|.	15.6717|15.6717	0.77283|0.77283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;545|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|D	497;545;174;418;160|482	ENSP00000368031:A497T;ENSP00000368030:A545T;ENSP00000439290:A418T|.	ENSP00000368030:A545T|.	A|G	+|+	1|2	0|0	ATAD3A|ATAD3A	1453089|1453089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.939000|0.939000	0.58152|0.58152	9.465000|9.465000	0.97660|0.97660	2.157000|2.157000	0.67596|0.67596	0.556000|0.556000	0.70494|0.70494	GCC|GGC		0.582	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		3	48	0	0	0	1	0	3	48				
CIITA	4261	broad.mit.edu	37	16	10995954	10995954	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr16:10995954A>C	ENST00000324288.8	+	7	674	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	181					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGACTGCTCCACCCTGCCCTG	0.617			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(541-543)Acc>Ccc		class II, major histocompatibility complex, transactivator							61.0	65.0	64.0					16																	10995954		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995954A>C	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.541A>C	16.37:g.10995954A>C	ENSP00000316328:p.Thr181Pro		Somatic				CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	p.T181P	NM_000246.3	NP_000237	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			7	674	+			181					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.541A>C	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655234	0.14580	.	.	ENSG00000179583	ENST00000324288;ENST00000537380	T	0.73047	-0.71	4.22	-2.45	0.06481	.	.	.	.	.	T	0.35828	0.0945	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.12993	-1.0526	9	0.38643	T	0.18	.	1.9005	0.03267	0.1905:0.3642:0.3008:0.1445	.	181;181;181;181	F5H2J4;A0N0N9;P33076;Q96KL4	.;.;C2TA_HUMAN;.	P	181	ENSP00000316328:T181P	ENSP00000316328:T181P	T	+	1	0	CIITA	10903455	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.077000	0.11394	-0.689000	0.05149	-2.403000	0.00223	ACC		0.617	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	75	0	0	0	1	0	8	75				
PCDH9	5101	broad.mit.edu	37	13	67800083	67800083	+	Silent	SNP	G	G	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr13:67800083G>A	ENST00000377865.2	-	1	2624	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	PCDH9_ENST00000456367.1_Silent_p.I830I|PCDH9_ENST00000377861.3_Silent_p.I830I|PCDH9_ENST00000544246.1_Silent_p.I830I|PCDH9_ENST00000328454.5_Silent_p.I830I			Q9HC56	PCDH9_HUMAN	protocadherin 9	830					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTGACGAAGATCACAACAA	0.507																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2488-2490)atC>atT		protocadherin 9							200.0	176.0	184.0					13																	67800083		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800083G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2490C>T	13.37:g.67800083G>A			Somatic				PCDH9_ENST00000456367.1_Silent_p.I830I|PCDH9_ENST00000377865.2_Silent_p.I830I|PCDH9_ENST00000377861.3_Silent_p.I830I|PCDH9_ENST00000328454.5_Silent_p.I830I	p.I830I	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3181	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	830					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2490C>T	CCDS9444.1																																																																																				0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		52	49	0	0	0	1	0	52	49				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		17	16	0	0	0	1	0	17	16				
ZFC3H1	196441	broad.mit.edu	37	12	72057131	72057131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr12:72057131G>T	ENST00000378743.3	-	1	618	c.260C>A	c.(259-261)tCa>tAa	p.S87*	ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.S87*|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	87	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCGAGCGTGAGAAATTCCT	0.657											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(259-261)tCa>tAa		zinc finger, C3H1-type containing							59.0	66.0	64.0					12																	72057131		1969	4152	6121	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057131G>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.260C>A	12.37:g.72057131G>T	ENSP00000368017:p.Ser87*		Somatic	OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	p.S87*	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			1	618	-			87			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.260C>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.359003	0.98235	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	.	.	.	4.09	3.18	0.36537	.	0.118844	0.34362	N	0.004034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5178	0.56042	0.0:0.168:0.832:0.0	.	.	.	.	X	87	.	ENSP00000368017:S87X	S	-	2	0	ZFC3H1	70343398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.122000	0.50446	1.048000	0.40298	0.455000	0.32223	TCA		0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		41	50	1	0	3.4345e-17	1	4.57933e-17	41	50				
KIAA2013	90231	broad.mit.edu	37	1	11983371	11983371	+	Silent	SNP	C	C	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:11983371C>A	ENST00000376572.3	-	2	1394	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	KIAA2013_ENST00000376576.3_Silent_p.G403G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	403						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGCGTGCCCGCTGAAGC	0.647																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1207-1209)ggG>ggT		KIAA2013							52.0	43.0	46.0					1																	11983371		2203	4300	6503	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11983371C>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1209G>T	1.37:g.11983371C>A			Somatic				KIAA2013_ENST00000376576.3_Silent_p.G403G	p.G403G	NM_138346.2	NP_612355.1	WXS	Illumina GAIIx	Phase_I	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1394	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	403					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.1209G>T	CCDS141.1																																																																																				0.647	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		3	25	1	0	0.115264	1	0.115264	3	25				
MRPS18C	51023	broad.mit.edu	37	4	84377254	84377254	+	Silent	SNP	C	C	T	rs141532727	byFrequency	TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507349.1_Silent_p.C8C|HELQ_ENST00000510985.1_5'Flank|MRPS18C_ENST00000507019.1_Silent_p.C8C|HELQ_ENST00000440639.2_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(22-24)tgC>tgT		mitochondrial ribosomal protein S18C		C		4,4402	8.1+/-20.4	0,4,2199	190.0	195.0	193.0		24	-0.0	0.0	4	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous	MRPS18C	NM_016067.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		8/143	84377254	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377254C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.24C>T	4.37:g.84377254C>T			Somatic				MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	p.C8C	NM_016067.2	NP_057151.1	WXS	Illumina GAIIx	Phase_I	Q9Y3D5	RT18C_HUMAN			1	137	+		Hepatocellular(203;0.114)	8						Silent	SNP	ENST00000295491.4	37	c.24C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246952	0.10130	9.08E-4	0.0	ENSG00000163319	ENST00000509970	.	.	.	4.72	-0.0422	0.13864	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	0.0289	4.1526	0.10245	0.0:0.4496:0.1685:0.3819	.	.	.	.	W	7	.	.	R	+	1	2	MRPS18C	84596278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.225000	0.02956	0.037000	0.15575	-0.137000	0.14449	CGG		0.552	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			4	164	0	0	0	1	0	4	164				
LGALS9	3965	broad.mit.edu	37	17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:25974373G>A	ENST00000395473.2	+	10	2304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(835-837)cGc>cAc		lectin, galactoside-binding, soluble, 9		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92.0	87.0	88.0		740,836	3.4	1.0	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LGALS9	NM_002308.3,NM_009587.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	247/324,279/356	25974373	2,13004	2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25974373G>A	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.836G>A	17.37:g.25974373G>A	ENSP00000378856:p.Arg279His		Somatic				LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H	p.R279H	NM_009587.2	NP_033665.1	WXS	Illumina GAIIx	Phase_I	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	10	2304	+	Lung NSC(42;0.0103)		279			Galectin 2.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.836G>A	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268327	0.80469	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	T;T;T	0.14144	2.53;2.53;2.53	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;P;P	0.75484	0.986;0.878;0.894	T	0.63102	-0.6712	10	0.72032	D	0.01	.	11.312	0.49368	0.0:0.0:0.8163:0.1837	.	190;247;279	B4DJD7;Q3B8N1;O00182	.;.;LEG9_HUMAN	H	279;247;235	ENSP00000378856:R279H;ENSP00000306228:R247H;ENSP00000312259:R235H	ENSP00000306228:R247H	R	+	2	0	LGALS9	22998500	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	5.359000	0.66074	1.036000	0.39998	0.467000	0.42956	CGC		0.587	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		3	50	0	0	0	1	0	3	50				
FAM86HP	729375	broad.mit.edu	37	3	129823181	129823181	+	RNA	DEL	A	A	-			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr3:129823181delA	ENST00000500074.2	-	0	257									family with sequence similarity 86, member H, pseudogene																		CAGCAATCAGAAAACAAGTGG	0.522																																						ENST00000500074.2																			0																																																			0							g.chr3:129823181delA			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129823181delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	257	-									RNA	DEL	ENST00000500074.2	37																																																																																						0.522	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			2	4						2	4	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31973891	31973891	+	IGR	DEL	T	T	-	rs572790007	byFrequency	TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr6:31973891delT	ENST00000594256.1	-	0	69				CYP21A1P_ENST00000342991.6_RNA|C4A-AS1_ENST00000458633.1_RNA																							cttaaacaaattttttttttg	0.493														16	0.00319489	0.0053	0.0014	5008	,	,		16970	0.002		0.002	False		,,,				2504	0.0041					ENST00000342991.6																			0																				28.0	30.0	30.0					6																	31973891		679	1546	2225	SO:0001628	intergenic_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31973891delT																													6.37:g.31973891delT			Somatic						NR_040090.1		WXS	Illumina GAIIx	Phase_I	Q5ST44	Q5ST44_HUMAN			0	479	+									RNA	DEL	ENST00000594256.1	37																																																																																						0.493	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	3						3	3	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT			Somatic				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs368873911|rs75843814	byFrequency	TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020									DNM1 pseudogene 47																		GATGCTGCTTCTCAGAGCTGCTGT	0.583																																						ENST00000561463.1																			0																																																			0							g.chr15:102292971_102292974delCTCA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292971_102292974delCTCA			Somatic								WXS	Illumina GAIIx	Phase_I					0	1017_1020	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.583	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73749891	73749891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:73749891delT	ENST00000200181.3	+	33	4341	c.4154delT	c.(4153-4155)ctgfs	p.L1385fs	ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1385					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTGGACCTGCGGCGCGTC	0.776																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4153-4155)ctgfs		integrin, beta 4							8.0	10.0	9.0					17																	73749891		2169	4252	6421	SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73749891delT		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4154delT	17.37:g.73749891delT	ENSP00000200181:p.Leu1385fs		Somatic				ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000339591.3_Intron|GALK1_ENST00000225614.2_Intron	p.L1385fs	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4341	+	all_cancers(13;1.5e-07)		1385					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Del	DEL	ENST00000200181.3	37	c.4154delT	CCDS11727.1																																																																																				0.776	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			2	4						2	4	---	---	---	---
EP300-AS1	101927279	broad.mit.edu	37	22	41585708	41585708	+	RNA	DEL	T	T	-			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr22:41585708delT	ENST00000420537.1	-	0	223																											TTTTTTTTTCTTTTTTTTTTA	0.478																																						ENST00000420537.1																			0																																																			0							g.chr22:41585708delT																													22.37:g.41585708delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	223	-									RNA	DEL	ENST00000420537.1	37																																																																																						0.478	RP1-85F18.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320612.1			2	4						2	4	---	---	---	---
