#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
ANO8	57719	broad.mit.edu	37	19	17444305	17444305	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr19:17444305G>A	ENST00000159087.4	-	3	434	c.276C>T	c.(274-276)ccC>ccT	p.P92P	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	92					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGATGAGCTCGGGAATGCCCA	0.652																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(274-276)ccC>ccT		anoctamin 8							131.0	120.0	124.0					19																	17444305		2203	4300	6503	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17444305G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.276C>T	19.37:g.17444305G>A							p.P92P	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			3	434	-			92					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.276C>T	CCDS32949.1																																																																																				0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		4	92	0	0	0	1	0	4	92				
C10orf91	170393	broad.mit.edu	37	10	134261549	134261549	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:134261549C>T	ENST00000392630.3	+	3	483	c.422C>T	c.(421-423)gCg>gTg	p.A141V	C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	141										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TTCAGGAATGCGGCCTTCGAA	0.662																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(421-423)gCg>gTg		chromosome 10 open reading frame 91							56.0	70.0	65.0					10																	134261549		2177	4281	6458	SO:0001583	missense	170393							g.chr10:134261549C>T	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.422C>T	10.37:g.134261549C>T	ENSP00000376407:p.Ala141Val					C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V	p.A141V	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	483	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	141					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.422C>T	CCDS7668.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580944	0.28180	.	.	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.07444	3.19;3.19	1.8	0.838	0.18902	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	B	0.32090	0.14	T	0.40776	-0.9545	8	.	.	.	.	3.6076	0.08049	0.0:0.739:0.0:0.261	.	141	Q5T1B1	CJ091_HUMAN	V	141	ENSP00000376407:A141V;ENSP00000323241:A141V	.	A	+	2	0	C10orf91	134111539	0.006000	0.16342	0.088000	0.20740	0.017000	0.09413	-0.406000	0.07187	0.289000	0.22422	0.313000	0.20887	GCG		0.662	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		4	91	0	0	0	1	0	4	91				
LINC00933	100506874	broad.mit.edu	37	15	85121267	85121267	+	RNA	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr15:85121267C>T	ENST00000557887.1	+	0	467					NR_038273.1|NR_038274.1				long intergenic non-protein coding RNA 933																		GGAGGCCAGCCGAACACACAG	0.473																																						ENST00000557887.1																			0																																																			100506874							g.chr15:85121267C>T			15q25.2	2013-05-29			ENSG00000259728	ENSG00000259728		"""Long non-coding RNAs"""	48625	non-coding RNA	RNA, long non-coding							Standard	NR_038273		Approved				OTTHUMG00000172445		15.37:g.85121267C>T								NR_038273.1|NR_038274.1						0	467	+									RNA	SNP	ENST00000557887.1	37																																																																																						0.473	LINC00933-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418591.1			4	67	0	0	0	1	0	4	67				
KRT8	3856	broad.mit.edu	37	12	53295659	53295659	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr12:53295659G>A	ENST00000552551.1	-	3	954	c.522C>T	c.(520-522)gaC>gaT	p.D174D	KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000546897.1_Silent_p.D174D			P05787	K2C8_HUMAN	keratin 8	174	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TGTTCTTGAAGTCCTCCACCA	0.592																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(520-522)gaC>gaT		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						148.0	143.0	145.0					12																	53295659		2203	4300	6503	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53295659G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.522C>T	12.37:g.53295659G>A						KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000546897.1_Silent_p.D174D	p.D174D			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	954	-			174			Coil 1B.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.522C>T	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828336	0.71143	.	.	ENSG00000170421	ENST00000547176	D	0.81996	-1.56	4.53	3.64	0.41730	.	.	.	.	.	D	0.87059	0.6083	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87587	0.2488	6	0.62326	D	0.03	.	12.1438	0.54012	0.0871:0.0:0.9129:0.0	.	.	.	.	F	25	ENSP00000449010:L25F	ENSP00000449010:L25F	L	-	1	0	KRT8	51581926	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.986000	0.29590	1.206000	0.43276	0.455000	0.32223	CTT		0.592	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		13	18	0	0	0	1	0	13	18				
ABCA13	154664	broad.mit.edu	37	7	48327637	48327637	+	Missense_Mutation	SNP	G	G	A	rs376098372		TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr7:48327637G>A	ENST00000435803.1	+	20	8941	c.8917G>A	c.(8917-8919)Gct>Act	p.A2973T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2973					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTATCTGCTATACAAGG	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8917-8919)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13							175.0	171.0	172.0					7																	48327637		1861	4106	5967	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48327637G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8917G>A	7.37:g.48327637G>A	ENSP00000411096:p.Ala2973Thr						p.A2973T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			20	8941	+			2973					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8917G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234058	0.58886	.	.	ENSG00000179869	ENST00000435803	D	0.87571	-2.27	5.63	3.8	0.43715	.	0.351640	0.20494	N	0.091221	T	0.75831	0.3903	L	0.27053	0.805	0.09310	N	0.999998	P;B	0.40731	0.728;0.147	B;B	0.33690	0.168;0.035	T	0.70252	-0.4923	10	0.87932	D	0	.	8.1827	0.31319	0.0875:0.1683:0.7442:0.0	.	675;2973	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2973	ENSP00000411096:A2973T	ENSP00000411096:A2973T	A	+	1	0	ABCA13	48298183	0.001000	0.12720	0.010000	0.14722	0.609000	0.37215	0.607000	0.24209	1.357000	0.45904	0.591000	0.81541	GCT		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	89	0	0	0	1	0	4	89				
PTTG1IP	754	broad.mit.edu	37	21	46271411	46271411	+	3'UTR	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr21:46271411G>A	ENST00000330938.3	-	0	848				PTTG1IP_ENST00000445724.2_Silent_p.C100C|PTTG1IP_ENST00000397887.3_3'UTR|PTTG1IP_ENST00000397886.3_3'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein						multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCAGGAGACCGCAATGGCCAC	0.622																																						ENST00000445724.2																			0				ovary(1)|prostate(1)	2						c.(298-300)tgC>tgT		pituitary tumor-transforming 1 interacting protein																																				SO:0001624	3_prime_UTR_variant	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46271411G>A	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.*85C>T	21.37:g.46271411G>A						PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000330938.3_3'UTR|PTTG1IP_ENST00000397887.3_3'UTR	p.C100C			P53801	PTTG_HUMAN		Colorectal(79;0.0659)	3	374	-			0					B2RDP7|D3DSL9|Q9NS09	Silent	SNP	ENST00000330938.3	37	c.300C>T	CCDS13715.1																																																																																				0.622	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			3	37	0	0	0	1	0	3	37				
ATP9B	374868	broad.mit.edu	37	18	76886309	76886309	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr18:76886309G>C	ENST00000426216.2	+	5	618	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	201					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGCAATTGATGAATTTCGGCG	0.348																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(601-603)Gaa>Caa		ATPase, class II, type 9B							177.0	151.0	160.0					18																	76886309		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76886309G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.601G>C	18.37:g.76886309G>C	ENSP00000398076:p.Glu201Gln					ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q	p.E201Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	5	618	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	201					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.601G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959612	0.74016	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.77098	-1.07;-1.07	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.65975	2.015	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.68621	0.959;0.931	D	0.87931	0.2710	10	0.87932	D	0	.	19.164	0.93546	0.0:0.0:1.0:0.0	.	201;201	O43861;O43861-2	ATP9B_HUMAN;.	Q	124;201;201	ENSP00000398076:E201Q;ENSP00000304500:E201Q	ENSP00000304500:E201Q	E	+	1	0	ATP9B	74987297	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	8.533000	0.90617	2.703000	0.92315	0.591000	0.81541	GAA		0.348	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		5	79	0	0	0	1	0	5	79				
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	rs201819023	byFrequency	TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													C|||	3	0.000599042	0.0008	0.0	5008	,	,		8750	0.002		0.0	False		,,,				2504	0.0					ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(214-216)tCt>tGt		keratin associated protein 5-1							69.0	86.0	81.0					11																	1606265		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606265G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.215C>G	11.37:g.1606265G>C	ENSP00000371606:p.Ser72Cys					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.S72C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	248	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	72			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.215C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685544	0.14973	.	.	ENSG00000205869	ENST00000382171	T	0.04119	3.7	3.53	3.53	0.40419	.	.	.	.	.	T	0.01558	0.0050	N	0.00188	-1.89	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.72032	D	0.01	.	11.0665	0.47979	0.0:0.8095:0.1905:0.0	.	72	Q6L8H4	KRA51_HUMAN	C	72	ENSP00000371606:S72C	ENSP00000371606:S72C	S	-	2	0	KRTAP5-1	1562841	0.000000	0.05858	0.991000	0.47740	0.354000	0.29330	-0.178000	0.09782	0.634000	0.30469	-0.401000	0.06369	TCT		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		3	103	0	0	0	1	0	3	103				
LMAN2L	81562	broad.mit.edu	37	2	97373550	97373550	+	Silent	SNP	A	A	G			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr2:97373550A>G	ENST00000264963.4	-	7	827	c.805T>C	c.(805-807)Ttg>Ctg	p.L269L	LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000537039.1_Silent_p.L131L|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000377079.4_Silent_p.L280L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	269	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AACAACTTCAAGGAAATGACA	0.418																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(805-807)Ttg>Ctg		lectin, mannose-binding 2-like							104.0	104.0	104.0					2																	97373550		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97373550A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.805T>C	2.37:g.97373550A>G						LMAN2L_ENST00000537039.1_Silent_p.L131L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000377079.4_Silent_p.L280L	p.L269L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			7	827	-			269			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.805T>C	CCDS2023.1																																																																																				0.418	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		4	75	0	0	0	1	0	4	75				
SLC22A11	55867	broad.mit.edu	37	11	64323500	64323500	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:64323500C>T	ENST00000301891.4	+	1	403	c.29C>T	c.(28-30)gCc>gTc	p.A10V	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	10					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TTGGAGCAAGCCGGAGGCGTG	0.592											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(28-30)gCc>gTc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						68.0	61.0	64.0					11																	64323500		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323500C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.29C>T	11.37:g.64323500C>T	ENSP00000301891:p.Ala10Val		OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V	p.A10V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			1	403	+			10					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.29C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	0.334	-0.954636	0.02285	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.39592	1.07;1.07;1.07	3.62	-1.65	0.08291	.	0.411149	0.23506	N	0.047444	T	0.10551	0.0258	N	0.00683	-1.26	0.09310	N	1	B;B;B;B	0.25904	0.046;0.01;0.002;0.137	B;B;B;B	0.31751	0.027;0.007;0.007;0.135	T	0.41502	-0.9505	10	0.02654	T	1	.	8.2321	0.31603	0.0:0.3289:0.0:0.6711	.	10;10;10;10	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	V	10	ENSP00000301891:A10V;ENSP00000366809:A10V;ENSP00000366804:A10V	ENSP00000301891:A10V	A	+	2	0	SLC22A11	64080076	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.239000	0.18023	-0.200000	0.10300	-0.490000	0.04691	GCC		0.592	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		3	29	0	0	0	1	0	3	29				
SHC1	6464	broad.mit.edu	37	1	154942999	154942999	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr1:154942999C>G	ENST00000368445.5	-	1	218	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000448116.2_Missense_Mutation_p.D2H|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368450.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	2				D -> N (in Ref. 3; CAA70977). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCAGGAGATCCATAGTTGAG	0.647																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(4-6)Gat>Cat		SHC (Src homology 2 domain containing) transforming protein 1							26.0	31.0	29.0					1																	154942999		1923	3788	5711	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942999C>G	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.4G>C	1.37:g.154942999C>G	ENSP00000357430:p.Asp2His					SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368445.5_Missense_Mutation_p.D2H|SHC1_ENST00000368453.4_Intron	p.D2H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	224	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		2	D -> N (in Ref. 3; CAA70977).				B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.4G>C	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096807	0.76870	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449	T;T;T	0.51071	0.72;0.72;1.21	4.27	4.27	0.50696	.	0.201461	0.38381	N	0.001718	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.953	T	0.57159	-0.7859	10	0.72032	D	0.01	.	16.8789	0.86058	0.0:1.0:0.0:0.0	.	2;2	P29353-6;P29353	.;SHC1_HUMAN	H	2	ENSP00000357430:D2H;ENSP00000401303:D2H;ENSP00000357434:D2H	ENSP00000357430:D2H	D	-	1	0	SHC1	153209623	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.693000	0.74582	2.371000	0.80710	0.555000	0.69702	GAT		0.647	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		32	28	0	0	0	1	0	32	28				
ANK3	288	broad.mit.edu	37	10	61833944	61833944	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:61833944C>T	ENST00000280772.2	-	37	6886	c.6695G>A	c.(6694-6696)cGg>cAg	p.R2232Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2232					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTAAAACCCGATTGTGGTC	0.413																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(6694-6696)cGg>cAg		ankyrin 3, node of Ranvier (ankyrin G)							212.0	197.0	202.0					10																	61833944		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833944C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6695G>A	10.37:g.61833944C>T	ENSP00000280772:p.Arg2232Gln					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.R2232Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6886	-			2232					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6695G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527127	0.27299	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	6.05	4.2	0.49525	.	0.000000	0.37053	N	0.002280	T	0.49525	0.1562	L	0.36672	1.1	0.54753	D	0.999985	B	0.32128	0.357	B	0.23275	0.045	T	0.47674	-0.9099	10	0.49607	T	0.09	.	13.4971	0.61432	0.0:0.8722:0.0:0.1278	.	2232	Q12955	ANK3_HUMAN	Q	2232	ENSP00000280772:R2232Q	ENSP00000280772:R2232Q	R	-	2	0	ANK3	61503950	0.028000	0.19301	0.023000	0.16930	0.823000	0.46562	1.390000	0.34464	0.888000	0.36160	0.643000	0.83706	CGG		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	127	0	0	0	1	0	6	127				
QSOX2	169714	broad.mit.edu	37	9	139118701	139118701	+	Silent	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr9:139118701G>A	ENST00000358701.5	-	2	385	c.348C>T	c.(346-348)cgC>cgT	p.R116R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	116	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGCTGCGACGCGAATGGCAC	0.607											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(346-348)cgC>cgT		quiescin Q6 sulfhydryl oxidase 2							204.0	169.0	181.0					9																	139118701		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139118701G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.348C>T	9.37:g.139118701G>A			OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1646		p.R116R	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	2	385	-		Myeloproliferative disorder(178;0.0511)	116			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.348C>T	CCDS35178.1																																																																																				0.607	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		17	35	0	0	0	1	0	17	35				
TIGD7	91151	broad.mit.edu	37	16	3350052	3350052	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr16:3350052G>A	ENST00000396862.1	-	2	2391	c.563C>T	c.(562-564)cCa>cTa	p.P188L	TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	188	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						agaattttctggcattgactt	0.408																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(562-564)cCa>cTa		tigger transposable element derived 7							144.0	144.0	144.0					16																	3350052		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350052G>A	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.563C>T	16.37:g.3350052G>A	ENSP00000380071:p.Pro188Leu					TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L	p.P188L	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	2391	-			188			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.563C>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391729	0.62066	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.39997	1.05;1.05	5.22	5.22	0.72569	.	0.198530	0.24247	U	0.040206	T	0.56031	0.1958	M	0.68317	2.08	0.41841	D	0.990123	P	0.51537	0.946	P	0.55391	0.775	T	0.57063	-0.7875	10	0.46703	T	0.11	.	14.2675	0.66129	0.0:0.0:1.0:0.0	.	188	Q6NT04	TIGD7_HUMAN	L	188	ENSP00000380071:P188L;ENSP00000268674:P188L	ENSP00000268674:P188L	P	-	2	0	TIGD7	3290053	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.633000	0.46519	2.442000	0.82660	0.655000	0.94253	CCA		0.408	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		7	160	0	0	0	1	0	7	160				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			642402							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			3	10	1	0	0.014758	1	0.014758	3	10				
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			100128890							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		3	3						3	3	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			653390							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	6						4	6	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	p.K349del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		7	53						7	53	---	---	---	---
