#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LHX8	431707	broad.mit.edu	37	1	75602926	75602926	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:75602926G>A	ENST00000294638.5	+	4	911	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	83	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGGAGATCGTGGACAAATA	0.647																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(247-249)Gtg>Atg		LIM homeobox 8							34.0	35.0	34.0					1																	75602926		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602926G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.247G>A	1.37:g.75602926G>A	ENSP00000294638:p.Val83Met					LHX8_ENST00000356261.3_Missense_Mutation_p.V73M|LHX8_ENST00000559413.1_3'UTR	p.V83M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			4	911	+			83			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.247G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766039	0.69878	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87650	-2.28;-2.28	5.1	4.17	0.49024	Zinc finger, LIM-type (5);	0.058303	0.64402	D	0.000002	D	0.84502	0.5486	L	0.41492	1.28	0.48511	D	0.999664	D	0.63880	0.993	P	0.57502	0.822	D	0.83799	0.0235	10	0.34782	T	0.22	.	15.6303	0.76904	0.0:0.138:0.862:0.0	.	83	Q68G74	LHX8_HUMAN	M	83;73	ENSP00000294638:V83M;ENSP00000348597:V73M	ENSP00000294638:V83M	V	+	1	0	LHX8	75375514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.427000	0.52785	1.142000	0.42291	0.549000	0.68633	GTG		0.647	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		11	14	11	14	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112081	76112081	+	Silent	SNP	A	A	G			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:76112081A>G	ENST00000324432.5	+	5	1035	c.525A>G	c.(523-525)caA>caG	p.Q175Q	DTX2_ENST00000430490.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000446820.2_Silent_p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	175					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGCGGCGCCAAGCAGGGCCGC	0.647																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(523-525)caA>caG		deltex homolog 2 (Drosophila)							51.0	48.0	49.0					7																	76112081		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112081A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.525A>G	7.37:g.76112081A>G						DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1035	+			175					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.525A>G	CCDS5587.1																																																																																				0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			23	17	23	17	---	---	---	---
CPA2	1358	broad.mit.edu	37	7	129912964	129912964	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:129912964A>C	ENST00000222481.4	+	5	488	c.433A>C	c.(433-435)Agc>Cgc	p.S145R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	145					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGTCTAGTGAGCAAAGTGAA	0.453																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(433-435)Agc>Cgc		carboxypeptidase A2 (pancreatic)							95.0	86.0	89.0					7																	129912964		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129912964A>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.433A>C	7.37:g.129912964A>C	ENSP00000222481:p.Ser145Arg						p.S145R	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			5	488	+	Melanoma(18;0.0435)		145					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.433A>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187279	0.57909	.	.	ENSG00000158516	ENST00000222481	T	0.09350	2.99	5.96	4.77	0.60923	Peptidase M14, carboxypeptidase A (2);	0.208075	0.49916	N	0.000127	T	0.18467	0.0443	M	0.73217	2.22	0.51233	D	0.999911	P;B	0.39717	0.684;0.191	P;B	0.46320	0.512;0.211	T	0.00601	-1.1650	10	0.59425	D	0.04	.	7.89	0.29672	0.7248:0.1406:0.0:0.1346	.	143;145	B4DDX9;P48052	.;CBPA2_HUMAN	R	145	ENSP00000222481:S145R	ENSP00000222481:S145R	S	+	1	0	CPA2	129700200	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	2.371000	0.44248	2.285000	0.76669	0.533000	0.62120	AGC		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		14	49	14	49	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34490062	34490062	+	Silent	SNP	C	C	T	rs374753293		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr9:34490062C>T	ENST00000242317.4	+	6	612	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	147					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCGAAGAAGACGAAGAGCCCA	0.488									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(439-441)gaC>gaT		dynein, axonemal, intermediate chain 1		C		0,4406		0,0,2203	73.0	77.0	76.0		441	-10.5	0.2	9		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		147/700	34490062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34490062C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.441C>T	9.37:g.34490062C>T						DNAI1_ENST00000488369.1_3'UTR	p.D147D	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	6	612	+	all_epithelial(49;0.244)		147					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.441C>T	CCDS6557.1																																																																																				0.488	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			12	13	12	13	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773329	118773329	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr11:118773329G>A	ENST00000334801.3	-	6	2087	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAGGGCCGGGGGCACTGCTG	0.692																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1123-1125)Ccc>Tcc		B-cell CLL/lymphoma 9-like							28.0	38.0	34.0					11																	118773329		2195	4292	6487	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773329G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1123C>T	11.37:g.118773329G>A	ENSP00000335320:p.Pro375Ser					BCL9L_ENST00000526143.1_5'UTR	p.P375S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2087	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	375			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1123C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	2.366	-0.345399	0.05208	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.62364	0.03	3.9	2.03	0.26663	.	0.173615	0.27609	N	0.018614	T	0.38480	0.1042	N	0.12182	0.205	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.27082	T	0.32	-0.1785	8.5228	0.33287	0.2739:0.0:0.7261:0.0	.	370;375	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	375;338;375;375	ENSP00000335320:P375S	ENSP00000335320:P375S	P	-	1	0	BCL9L	118278539	0.406000	0.25344	0.033000	0.17914	0.588000	0.36517	0.363000	0.20301	0.335000	0.23614	-0.680000	0.03767	CCC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	23	9	23	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65496880	65496880	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:65496880G>C	ENST00000261883.4	-	6	811	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	215					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGCATCACAGTCAGCATTCA	0.577																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(643-645)gaC>gaG		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							55.0	53.0	54.0					15																	65496880		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65496880G>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.645C>G	15.37:g.65496880G>C	ENSP00000261883:p.Asp215Glu						p.D215E	NM_003613.3	NP_003604	O75339	CILP1_HUMAN			6	811	-			215					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.645C>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.084968	0.20390	.	.	ENSG00000138615	ENST00000261883	T	0.37058	1.22	5.63	1.55	0.23275	.	0.231504	0.50627	N	0.000101	T	0.24392	0.0591	L	0.49640	1.575	0.34807	D	0.737358	B	0.06786	0.001	B	0.09377	0.004	T	0.36359	-0.9751	10	0.05721	T	0.95	-9.1761	8.1266	0.31003	0.1352:0.2415:0.6233:0.0	.	215	O75339	CILP1_HUMAN	E	215	ENSP00000261883:D215E	ENSP00000261883:D215E	D	-	3	2	CILP	63283933	0.962000	0.33011	0.996000	0.52242	0.974000	0.67602	0.063000	0.14410	0.039000	0.15632	0.563000	0.77884	GAC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		12	16	12	16	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080009	23080009	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:23080009C>A	ENST00000219689.7	-	16	3416	c.3417G>T	c.(3415-3417)agG>agT	p.R1139S	USP31_ENST00000567975.1_Missense_Mutation_p.R432S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAAAGGGCTCCTTGTGGCAG	0.592																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3415-3417)agG>agT		ubiquitin specific peptidase 31							64.0	68.0	67.0					16																	23080009		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080009C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3417G>T	16.37:g.23080009C>A	ENSP00000219689:p.Arg1139Ser					USP31_ENST00000567975.1_Missense_Mutation_p.R432S	p.R1139S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3416	-			1139			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3417G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	8.829	0.939467	0.18281	.	.	ENSG00000103404	ENST00000219689	T	0.10288	2.89	5.8	3.81	0.43845	.	2.079960	0.02497	N	0.090052	T	0.17619	0.0423	L	0.29908	0.895	0.35535	D	0.802553	P;D	0.55605	0.799;0.972	B;P	0.54100	0.323;0.742	T	0.03773	-1.1005	10	0.33940	T	0.23	-23.2872	8.1676	0.31237	0.0:0.7494:0.0:0.2506	.	1139;432	Q70CQ4;B3KS48	UBP31_HUMAN;.	S	1139	ENSP00000219689:R1139S	ENSP00000219689:R1139S	R	-	3	2	USP31	22987510	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	1.953000	0.40352	0.739000	0.32628	-0.136000	0.14681	AGG		0.592	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		27	41	27	41	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50123646	50123646	+	Silent	SNP	G	G	A	rs189353817	byFrequency	TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50123646G>A	ENST00000418929.2	+	10	5547	c.5535G>A	c.(5533-5535)gcG>gcA	p.A1845A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1024							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAACCAGGGCGATGCGGGAGA	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		16613	0.0		0.002	False		,,,				2504	0.0					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5533-5535)gcG>gcA		proline rich 12							47.0	51.0	49.0					19																	50123646		2138	4244	6382	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123646G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5535G>A	19.37:g.50123646G>A							p.A1845A	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5547	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1024					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5535G>A	CCDS46143.1																																																																																				0.587	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	6	3	6	---	---	---	---
