#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
TTC22	55001	broad.mit.edu	37	1	55266618	55266618	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:55266618G>A	ENST00000371276.4	-	1	322	c.219C>T	c.(217-219)ggC>ggT	p.G73G	TTC22_ENST00000371274.4_Silent_p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	73										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						ATGCGAAAGCGCCCAGGAGGT	0.711																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(217-219)ggC>ggT		tetratricopeptide repeat domain 22							9.0	11.0	10.0					1																	55266618		2176	4272	6448	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266618G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.219C>T	1.37:g.55266618G>A						TTC22_ENST00000371274.4_Silent_p.G73G	p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			1	322	-			73					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.219C>T	CCDS44152.1																																																																																				0.711	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		3	7	3	7	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32740210	32740210	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:32740210T>A	ENST00000421745.2	+	55	10856	c.10722T>A	c.(10720-10722)caT>caA	p.H3574Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3574					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCAATGTCATCATAGACTGT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10720-10722)caT>caA		baculoviral IAP repeat containing 6							108.0	103.0	104.0					2																	32740210		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740210T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10722T>A	2.37:g.32740210T>A	ENSP00000393596:p.His3574Gln						p.H3574Q	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN			55	10856	+	Acute lymphoblastic leukemia(172;0.155)		3574					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10722T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	t	8.137	0.784283	0.16189	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.68	-0.672	0.11377	.	0.113529	0.64402	D	0.000010	T	0.35566	0.0936	N	0.03115	-0.41	0.35324	D	0.784996	B	0.02656	0.0	B	0.04013	0.001	T	0.03403	-1.1040	10	0.30078	T	0.28	.	0.3544	0.00354	0.2268:0.2345:0.1779:0.3608	.	3574	Q9NR09	BIRC6_HUMAN	Q	3574	ENSP00000393596:H3574Q	ENSP00000393596:H3574Q	H	+	3	2	BIRC6	32593714	0.997000	0.39634	0.909000	0.35828	0.761000	0.43186	0.587000	0.23909	-0.136000	0.11475	-0.221000	0.12465	CAT		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	15	5	15	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98109899	98109899	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:98109899G>A	ENST00000383695.1	+	1	390	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAACCCACTGCAGTACCACA	0.473																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(388-390)ctG>ctA		olfactory receptor, family 5, subfamily K, member 3							168.0	156.0	160.0					3																	98109899		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109899G>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.390G>A	3.37:g.98109899G>A						RP11-325B23.2_ENST00000508616.1_lincRNA	p.L130L	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	390	+			130						Silent	SNP	ENST00000383695.1	37	c.390G>A	CCDS33803.1																																																																																				0.473	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	67	16	67	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146686246	146686246	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr4:146686246G>A	ENST00000508784.1	-	13	3351	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F			Q17R98	ZN827_HUMAN	zinc finger protein 827	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGGTGATGAGGTGTATCTGC	0.502																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3124-3126)Ctc>Ttc		zinc finger protein 827							104.0	96.0	99.0					4																	146686246		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686246G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3124C>T	4.37:g.146686246G>A	ENSP00000421863:p.Leu1042Phe					ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F	p.L1042F			Q17R98	ZN827_HUMAN			13	3351	-	all_hematologic(180;0.151)		1042					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3124C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689834	0.68271	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.61040	0.14;0.14;0.14	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.991	T	0.73288	-0.4030	10	0.62326	D	0.03	-13.2564	18.3139	0.90210	0.0:0.0:1.0:0.0	.	692;1042;1042;692	G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.;ZN827_HUMAN;.;.	F	1042;692;1042;1041;692	ENSP00000421863:L1042F;ENSP00000423130:L692F;ENSP00000368761:L1042F	ENSP00000281318:L1041F	L	-	1	0	ZNF827	146905696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.368000	0.80403	0.655000	0.94253	CTC		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	50	8	50	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553634	140553634	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:140553634G>C	ENST00000231137.3	+	1	1392	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTAACAGAGAAACCTTTGG	0.502																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1216-1218)gaG>gaC									99.0	95.0	96.0					5																	140553634		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553634G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1218G>C	5.37:g.140553634G>C	ENSP00000231137:p.Glu406Asp						p.E406D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1392	+			406			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1218G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	2.229	-0.376589	0.05000	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52295	0.67	4.61	-1.16	0.09678	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22475	0.0542	N	0.10874	0.06	0.09310	N	1	B	0.21071	0.051	B	0.27887	0.084	T	0.21930	-1.0231	9	0.27082	T	0.32	.	1.2843	0.02047	0.2003:0.3171:0.2654:0.2171	.	406	Q9Y5E2	PCDB7_HUMAN	D	406;189	ENSP00000231137:E406D	ENSP00000231137:E406D	E	+	3	2	PCDHB7	140533818	0.000000	0.05858	0.146000	0.22360	0.718000	0.41266	-3.014000	0.00646	-0.142000	0.11354	0.650000	0.86243	GAG		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	33	11	33	---	---	---	---
HDAC3	8841	broad.mit.edu	37	5	141009253	141009253	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:141009253G>C	ENST00000305264.3	-	6	553	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	158	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACTTACTTGAGCAGCTCCA	0.532																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(472-474)ctC>ctG		histone deacetylase 3	Vorinostat(DB02546)						107.0	107.0	107.0					5																	141009253		2203	4300	6503	SO:0001819	synonymous_variant	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141009253G>C	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.474C>G	5.37:g.141009253G>C							p.L158L	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	553	-			158			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	c.474C>G	CCDS4264.1																																																																																				0.532	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		9	57	9	57	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922533	150922533	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:150922533G>C	ENST00000261800.5	-	9	8167	c.8155C>G	c.(8155-8157)Caa>Gaa	p.Q2719E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2719	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGATCTTGAGCTGCCACT	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8155-8157)Caa>Gaa		FAT atypical cadherin 2							70.0	72.0	71.0					5																	150922533		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922533G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8155C>G	5.37:g.150922533G>C	ENSP00000261800:p.Gln2719Glu						p.Q2719E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8167	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2719			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8155C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417466	0.11870	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.38	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.308863	0.26979	N	0.021522	T	0.27027	0.0662	N	0.15975	0.35	0.34854	D	0.741967	B	0.06786	0.001	B	0.10450	0.005	T	0.27054	-1.0085	10	0.21540	T	0.41	.	8.1351	0.31050	0.0:0.302:0.5717:0.1263	.	2719	Q9NYQ8	FAT2_HUMAN	E	2719	ENSP00000261800:Q2719E	ENSP00000261800:Q2719E	Q	-	1	0	FAT2	150902726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.649000	0.54417	2.526000	0.85167	0.462000	0.41574	CAA		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	72	34	72	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153144077	153144077	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:153144077C>A	ENST00000285900.5	+	12	2250	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	636					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AATCTGGCCGCCTTCCTGACC	0.547																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1906-1908)gCc>gAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						121.0	102.0	109.0					5																	153144077		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144077C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1907C>A	5.37:g.153144077C>A	ENSP00000285900:p.Ala636Asp					GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D	p.A636D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2250	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	636					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1907C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031102	0.93575	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.97465	4.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.92717	0.6188	10	0.87932	D	0	.	17.8377	0.88704	0.0:1.0:0.0:0.0	.	646;646;556;636;636	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	D	636;636;556;590;636;569;567;646;646	ENSP00000285900:A636D;ENSP00000427920:A556D;ENSP00000339343:A636D;ENSP00000427864:A569D;ENSP00000442108:A567D;ENSP00000428994:A646D;ENSP00000415569:A646D	ENSP00000285900:A636D	A	+	2	0	GRIA1	153124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.443000	0.82685	0.555000	0.69702	GCC		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	47	3	47	---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2680489	2680489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:2680489G>A	ENST00000274643.7	-	8	1066	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATTTTTATTTGCTTAGCATCC	0.418																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(724-726)Caa>Taa		myosin light chain kinase family, member 4							183.0	186.0	185.0					6																	2680489		2203	4300	6503	SO:0001587	stop_gained	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2680489G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.724C>T	6.37:g.2680489G>A	ENSP00000274643:p.Gln242*					MYLK4_ENST00000268446.5_Intron	p.Q242*	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			8	1066	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	242			Protein kinase.		A2RUC0|Q5TAW2	Nonsense_Mutation	SNP	ENST00000274643.7	37	c.724C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983276	0.98594	.	.	ENSG00000145949	ENST00000274643	.	.	.	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8444	0.92198	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000274643:Q242X	Q	-	1	0	MYLK4	2625488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.062000	0.57492	2.758000	0.94735	0.655000	0.94253	CAA		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	80	21	80	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32013021	32013021	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:32013021G>A	ENST00000375244.3	-	32	10890	c.10689C>T	c.(10687-10689)acC>acT	p.T3563T	TNXB_ENST00000451343.1_5'UTR|TNXB_ENST00000375247.2_Silent_p.T3561T			P22105	TENX_HUMAN	tenascin XB	3608	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCGGTCACGGTCAGCACTC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10687-10689)acC>acT		tenascin XB							13.0	12.0	12.0					6																	32013021		1483	2653	4136	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32013021G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10689C>T	6.37:g.32013021G>A						TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR	p.T3563T			P22105	TENX_HUMAN			32	10890	-			3608			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10689C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	25	3	25	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901353	4901353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:4901353G>A	ENST00000404991.1	-	1	272	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	29					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTTGGGGACCGCTAGACTGAT	0.627																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(85-87)gCg>gTg		poly(A) polymerase beta (testis specific)							15.0	15.0	15.0					7																	4901353		1953	4140	6093	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901353G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.86C>T	7.37:g.4901353G>A	ENSP00000384700:p.Ala29Val					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.A29V	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	272	-		Ovarian(82;0.0175)	29					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236454	0.22711	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.22	0.36961	.	.	.	.	.	T	0.55816	0.1944	M	0.80616	2.505	0.53688	D	0.999973	P	0.35348	0.496	B	0.29353	0.101	T	0.63422	-0.6641	8	0.66056	D	0.02	.	11.3153	0.49388	0.0:0.0:0.8166:0.1834	.	30	A4D1Z6	.	V	29	.	ENSP00000384700:A29V	A	-	2	0	PAPOLB	4867879	1.000000	0.71417	0.160000	0.22671	0.036000	0.12997	3.744000	0.55112	1.290000	0.44636	0.655000	0.94253	GCG		0.627	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		4	16	4	16	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14805023	14805023	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:14805023C>A	ENST00000380880.3	-	19	4185	c.3402G>T	c.(3400-3402)gaG>gaT	p.E1134D	FREM1_ENST00000380881.4_Missense_Mutation_p.E1135D|FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1134					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATGGTATCTCCAAGGAGT	0.413																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3403-3405)gaG>gaT		FRAS1 related extracellular matrix 1							139.0	137.0	137.0					9																	14805023		1910	4131	6041	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805023C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3402G>T	9.37:g.14805023C>A	ENSP00000370262:p.Glu1134Asp					FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D	p.E1135D			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4220	-			1134					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3405G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217737	0.09810	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.44083	0.93;0.93;0.93	5.42	0.467	0.16721	.	0.350198	0.32785	N	0.005651	T	0.35770	0.0943	M	0.71036	2.16	0.09310	N	0.999999	P	0.37864	0.61	B	0.38616	0.277	T	0.21211	-1.0252	10	0.17832	T	0.49	-12.9579	6.965	0.24617	0.0:0.5191:0.1206:0.3602	.	1134	Q5H8C1	FREM1_HUMAN	D	1135;1134;1134	ENSP00000370263:E1135D;ENSP00000412940:E1134D;ENSP00000370262:E1134D	ENSP00000370257:E1137D	E	-	3	2	FREM1	14795023	0.190000	0.23276	0.021000	0.16686	0.104000	0.19210	0.004000	0.13106	0.180000	0.19960	0.650000	0.86243	GAG		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		3	51	3	51	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111734982	111734982	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:111734982G>C	ENST00000325551.4	-	9	1406	c.1320C>G	c.(1318-1320)ctC>ctG	p.L440L	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000374595.4_Silent_p.L440L	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	440					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCTGTTCAGAGAGTTTACAGG	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1318-1320)ctC>ctG		catenin (cadherin-associated protein), alpha-like 1							117.0	119.0	118.0					9																	111734982		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111734982G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1320C>G	9.37:g.111734982G>C						CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron	p.L440L			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1399	-			440					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1320C>G	CCDS6775.1																																																																																				0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	64	3	64	---	---	---	---
GSTO1	9446	broad.mit.edu	37	10	106014945	106014945	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr10:106014945C>G	ENST00000369713.5	+	2	253	c.59C>G	c.(58-60)cCg>cGg	p.P20R	GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GGGCCGGTCCCGGAGGGCTCG	0.687																																						ENST00000369713.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(58-60)cCg>cGg		glutathione S-transferase omega 1	Glutathione(DB00143)						30.0	35.0	33.0					10																	106014945		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106014945C>G	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.59C>G	10.37:g.106014945C>G	ENSP00000358727:p.Pro20Arg					GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR	p.P20R	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	2	253	+		Colorectal(252;0.102)|Breast(234;0.122)	20					D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.59C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973528	0.92919	.	.	ENSG00000148834	ENST00000369710;ENST00000369713	T;T	0.09723	2.95;3.5	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.193414	0.56097	D	0.000026	T	0.38295	0.1035	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25847	-1.0120	10	0.42905	T	0.14	-5.2496	18.1543	0.89686	0.0:1.0:0.0:0.0	.	20	P78417	GSTO1_HUMAN	R	20	ENSP00000358724:P20R;ENSP00000358727:P20R	ENSP00000358724:P20R	P	+	2	0	GSTO1	106004935	0.983000	0.35010	0.997000	0.53966	0.803000	0.45373	4.283000	0.58977	2.515000	0.84797	0.491000	0.48974	CCG		0.687	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		5	31	5	31	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39438593	39438593	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:39438593T>G	ENST00000280481.7	+	16	8049	c.7833T>G	c.(7831-7833)ccT>ccG	p.P2611P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGACATATCCTTACCAGTACA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7831-7833)ccT>ccG		FRAS1 related extracellular matrix protein 2							169.0	157.0	162.0					13																	39438593		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438593T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7833T>G	13.37:g.39438593T>G							p.P2611P	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	16	8049	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2611					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7833T>G	CCDS31960.1																																																																																				0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	78	19	78	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71540394	71540394	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:71540394T>C	ENST00000304743.2	+	27	5431	c.4985T>C	c.(4984-4986)cTa>cCa	p.L1662P	PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P|PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1662						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGCGATGGCTAGCTTGGGAA	0.418																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4984-4986)cTa>cCa		pecanex homolog (Drosophila)							239.0	211.0	221.0					14																	71540394		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540394T>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4985T>C	14.37:g.71540394T>C	ENSP00000304192:p.Leu1662Pro					PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	p.L1662P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5431	+			1662					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4985T>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.272555|4.272555	0.80580|0.80580	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.13307|.	2.98;3.02;2.6|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78597|.	0.4308|.	M|M	0.85945|0.85945	2.785|2.785	0.50813|0.50813	D|D	0.999897|0.999897	D;D;D|.	0.89917|.	0.997;0.999;1.0|.	P;D;D|.	0.83275|.	0.894;0.979;0.996|.	T|.	0.81568|.	-0.0873|.	10|.	0.87932|.	D|.	0|.	.|.	15.1225|15.1225	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1590;1551;1662|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|Q	1662;1590;1551|649	ENSP00000304192:L1662P;ENSP00000238570:L1590P;ENSP00000396617:L1551P|.	ENSP00000238570:L1590P|.	L|X	+|+	2|1	0|0	PCNX|PCNX	70610147|70610147	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.972000|0.972000	0.66771|0.66771	7.482000|7.482000	0.81143|0.81143	2.221000|2.221000	0.72209|0.72209	0.528000|0.528000	0.53228|0.53228	CTA|TAG		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	84	22	84	---	---	---	---
DCAF4	26094	broad.mit.edu	37	14	73418524	73418524	+	Silent	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:73418524C>T	ENST00000358377.2	+	9	967	c.747C>T	c.(745-747)ctC>ctT	p.L249L	DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000553457.1_Silent_p.L149L|DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000555042.1_Silent_p.L249L	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	249					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCATGGGACTCGCAGAGACTC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(445-447)ctC>ctT		DDB1 and CUL4 associated factor 4							201.0	180.0	188.0					14																	73418524		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73418524C>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.747C>T	14.37:g.73418524C>T						DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L	p.L149L			Q8WV16	DCAF4_HUMAN			8	737	+			249					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.447C>T	CCDS9809.1																																																																																				0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		6	118	6	118	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74670338	74670338	+	Silent	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr16:74670338T>C	ENST00000361070.4	-	8	1429	c.1332A>G	c.(1330-1332)gtA>gtG	p.V444V	RFWD3_ENST00000571750.1_Silent_p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	444					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCCTGAGATACTGTGAAGG	0.547																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1330-1332)gtA>gtG		ring finger and WD repeat domain 3							128.0	118.0	121.0					16																	74670338		2198	4300	6498	SO:0001819	synonymous_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74670338T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1332A>G	16.37:g.74670338T>C						RFWD3_ENST00000571750.1_Silent_p.V444V	p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			8	1429	-			444					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	c.1332A>G	CCDS32486.1																																																																																				0.547	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	43	7	43	---	---	---	---
FAM209A	200232	broad.mit.edu	37	20	55099933	55099933	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:55099933T>G	ENST00000371328.3	+	1	392	c.69T>G	c.(67-69)tcT>tcG	p.S23S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTATGTTCTCTTCTCTGAGAC	0.537																																						ENST00000371328.3																			0											c.(67-69)tcT>tcG		family with sequence similarity 209, member A							98.0	93.0	95.0					20																	55099933		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55099933T>G	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.69T>G	20.37:g.55099933T>G						FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron	p.S23S	NM_001012971.3	NP_001012989.2					1	392	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.69T>G	CCDS33493.1																																																																																				0.537	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	63	15	63	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39147338	39147338	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:39147338G>C	ENST00000405510.1	-	4	521	c.163C>G	c.(163-165)Cca>Gca	p.P55A	SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	55	LMNA-binding. {ECO:0000250}.|Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTGGCGCTGGGGACAGGCGC	0.617																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(163-165)Cca>Gca		Sad1 and UNC84 domain containing 2							90.0	97.0	95.0					22																	39147338		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39147338G>C	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.163C>G	22.37:g.39147338G>C	ENSP00000385740:p.Pro55Ala					SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A	p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			4	521	-			55			LMNA-binding (By similarity).|Ser-rich.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.163C>G	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621929	0.66787	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	2.48;2.48;1.44;2.48;1.99;1.03;0.13;0.09;0.26;0.33;-0.18;0.36	5.36	5.36	0.76844	.	0.078950	0.51477	D	0.000091	T	0.68860	0.3047	L	0.29908	0.895	0.38104	D	0.937362	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.994	T	0.66304	-0.5957	10	0.21540	T	0.41	-12.6022	17.2724	0.87106	0.0:0.0:1.0:0.0	.	90;90;55;55;55	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	A	55;55;55;55;90;55;55;55;55;55;55;55	ENSP00000385740:P55A;ENSP00000216064:P55A;ENSP00000385616:P55A;ENSP00000383992:P55A;ENSP00000395601:P90A;ENSP00000406941:P55A;ENSP00000415588:P55A;ENSP00000408834:P55A;ENSP00000414950:P55A;ENSP00000411615:P55A;ENSP00000412928:P55A;ENSP00000393271:P55A	ENSP00000216064:P55A	P	-	1	0	SUN2	37477284	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.752000	0.68728	2.498000	0.84270	0.655000	0.94253	CCA		0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		12	34	12	34	---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39104561	39104561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:39104561delT	ENST00000302313.5	+	2	97	c.69delT	c.(67-69)gatfs	p.D23fs	WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	23					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTATTCGAGATGAAGTGGAGA	0.388																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(67-69)gatfs		WD repeat domain 48							97.0	95.0	96.0					3																	39104561		2203	4300	6503	SO:0001589	frameshift_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39104561delT	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.69delT	3.37:g.39104561delT	ENSP00000307491:p.Asp23fs					WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR	p.D23fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	2	97	+			23					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	ENST00000302313.5	37	c.69delT	CCDS33738.1																																																																																				0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		15	73	15	73	---	---	---	---
