#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HERC1	8925	broad.mit.edu	37	15	63991137	63991137	+	Silent	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr15:63991137G>A	ENST00000443617.2	-	26	4782	c.4695C>T	c.(4693-4695)agC>agT	p.S1565S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1565					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAGTCTCTGCTATGTTTCA	0.393																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(4693-4695)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							160.0	155.0	156.0					15																	63991137		1883	4112	5995	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63991137G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4695C>T	15.37:g.63991137G>A						RP11-317G6.1_ENST00000559303.2_RNA	p.S1565S	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			26	4782	-			1565					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.4695C>T	CCDS45277.1																																																																																				0.393	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	112	0	0	0	1	0	4	112				
ELN	2006	broad.mit.edu	37	7	73471770	73471770	+	Silent	SNP	A	A	G			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr7:73471770A>G	ENST00000358929.4	+	22	1507	c.1416A>G	c.(1414-1416)ccA>ccG	p.P472P	ELN_ENST00000357036.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000320399.6_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCGCAGTCCCAGGTGTGCCGG	0.632			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000358929.4				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1414-1416)ccA>ccG		elastin	Rofecoxib(DB00533)						19.0	19.0	19.0					7																	73471770		876	1989	2865	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73471770A>G		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000358929.4:c.1416A>G	7.37:g.73471770A>G						ELN_ENST00000414324.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron	p.P472P			P15502	ELN_HUMAN			22	1507	+		Lung NSC(55;0.159)	472			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000358929.4	37	c.1416A>G																																																																																					0.632	ELN-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_000501		5	16	0	0	0	1	0	5	16				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	94	0	0	0	1	0	4	94				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		50	92	0	0	0	1	0	50	92				
CWH43	80157	broad.mit.edu	37	4	49034677	49034677	+	Missense_Mutation	SNP	G	G	A	rs181675127		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr4:49034677G>A	ENST00000226432.4	+	12	1786	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	CWH43_ENST00000513409.1_Missense_Mutation_p.V508I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	535					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CACATTGACCGTTAACATTTC	0.463																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1603-1605)Gtt>Att		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							205.0	179.0	188.0					4																	49034677		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49034677G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1603G>A	4.37:g.49034677G>A	ENSP00000226432:p.Val535Ile					CWH43_ENST00000513409.1_Missense_Mutation_p.V508I	p.V535I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			12	1786	+			535					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1603G>A	CCDS3486.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.731	-0.779957	0.02929	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	5.24	4.32	0.51571	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.56097	D	0.000038	T	0.11750	0.0286	N	0.04705	-0.18	0.09310	N	1	P	0.37594	0.601	B	0.24394	0.053	T	0.17592	-1.0364	9	.	.	.	.	12.1374	0.53979	0.0923:0.0:0.9077:0.0	.	535	Q9H720	PG2IP_HUMAN	I	535;508	ENSP00000226432:V535I;ENSP00000422802:V508I	.	V	+	1	0	CWH43	48729434	0.981000	0.34729	0.129000	0.21949	0.002000	0.02628	3.188000	0.50958	2.737000	0.93849	0.561000	0.74099	GTT		0.463	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		4	188	0	0	0	1	0	4	188				
C9orf91	203197	broad.mit.edu	37	9	117405508	117405508	+	Missense_Mutation	SNP	C	C	G	rs367949099		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr9:117405508C>G	ENST00000288502.4	+	9	1381	c.944C>G	c.(943-945)aCg>aGg	p.T315R	C9orf91_ENST00000374049.4_Missense_Mutation_p.T316R			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	315						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ACACGACACACGAACTCTCCG	0.587																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(946-948)aCg>aGg		chromosome 9 open reading frame 91							110.0	95.0	100.0					9																	117405508		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117405508C>G	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.944C>G	9.37:g.117405508C>G	ENSP00000288502:p.Thr315Arg					C9orf91_ENST00000288502.4_Missense_Mutation_p.T315R	p.T316R	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			9	1384	+			315					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.947C>G	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	C	5.555	0.287208	0.10513	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.8	1.14	0.20703	.	0.791178	0.11722	N	0.535800	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B;P	0.36789	0.3;0.57	B;B	0.40329	0.162;0.326	T	0.20174	-1.0283	9	0.32370	T	0.25	-19.4541	7.7089	0.28667	0.0:0.581:0.0:0.419	.	294;315	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	R	316;315	.	ENSP00000288502:T315R	T	+	2	0	C9orf91	116445329	0.009000	0.17119	0.096000	0.21009	0.206000	0.24218	0.034000	0.13776	-0.072000	0.12864	0.650000	0.86243	ACG		0.587	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		23	72	0	0	0	1	0	23	72				
FBXO39	162517	broad.mit.edu	37	17	6690256	6690256	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:6690256G>A	ENST00000321535.4	+	3	1311	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	394										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GAACGGCAGTGTGCCCTGCGT	0.512																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1180-1182)tGt>tAt		F-box protein 39							115.0	113.0	113.0					17																	6690256		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6690256G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1181G>A	17.37:g.6690256G>A	ENSP00000321386:p.Cys394Tyr						p.C394Y	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			3	1311	+			394						Missense_Mutation	SNP	ENST00000321535.4	37	c.1181G>A	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592778	0.28357	.	.	ENSG00000177294	ENST00000321535	T	0.52983	0.64	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.52075	0.1712	N	0.24115	0.695	0.48087	D	0.999583	D	0.65815	0.995	D	0.75484	0.986	T	0.37267	-0.9713	10	0.19590	T	0.45	-19.2627	14.5936	0.68389	0.0:0.0:1.0:0.0	.	394	Q8N4B4	FBX39_HUMAN	Y	394	ENSP00000321386:C394Y	ENSP00000321386:C394Y	C	+	2	0	FBXO39	6630980	1.000000	0.71417	0.980000	0.43619	0.309000	0.27889	4.559000	0.60796	2.733000	0.93635	0.555000	0.69702	TGT		0.512	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		34	56	0	0	0	1	0	34	56				
ITIH6	347365	broad.mit.edu	37	X	54777747	54777747	+	Missense_Mutation	SNP	G	G	T	rs199792420		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chrX:54777747G>T	ENST00000218436.6	-	12	3448	c.3419C>A	c.(3418-3420)aCc>aAc	p.T1140N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1140					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTGGAAGTAGGTGCGAGTCTG	0.607																																						ENST00000218436.6																			0											c.(3418-3420)aCc>aAc		inter-alpha-trypsin inhibitor heavy chain family, member 6							72.0	60.0	64.0					X																	54777747		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777747G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3419C>A	X.37:g.54777747G>T	ENSP00000218436:p.Thr1140Asn						p.T1140N	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			12	3448	-			1140					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3419C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790055	0.70337	.	.	ENSG00000102313	ENST00000218436	T	0.19250	2.16	3.43	3.43	0.39272	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.612815	0.15181	U	0.276092	T	0.45256	0.1333	M	0.70275	2.135	0.36340	D	0.859436	D	0.89917	1.0	D	0.91635	0.999	T	0.56498	-0.7969	10	0.66056	D	0.02	.	13.2584	0.60091	0.0:0.0:1.0:0.0	.	1140	Q6UXX5	ITH5L_HUMAN	N	1140	ENSP00000218436:T1140N	ENSP00000218436:T1140N	T	-	2	0	ITIH5L	54794472	0.999000	0.42202	0.823000	0.32752	0.892000	0.51952	1.878000	0.39608	1.311000	0.45024	0.287000	0.19450	ACC		0.607	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		28	3	1	0	1.33986e-20	1	1.47058e-20	28	3				
APOL4	80832	broad.mit.edu	37	22	36587725	36587725	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr22:36587725T>C	ENST00000352371.1	-	6	675	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000332987.1_Missense_Mutation_p.I148V|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	152					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						ACAGACAGGATGCCAGTGGAG	0.532																																						ENST00000332987.1																			0				lung(1)	1						c.(442-444)Atc>Gtc		apolipoprotein L, 4							63.0	69.0	67.0					22																	36587725		2195	4298	6493	SO:0001583	missense	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587725T>C	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.451A>G	22.37:g.36587725T>C	ENSP00000338260:p.Ile151Val					APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.I151V	p.I148V			Q9BPW4	APOL4_HUMAN			7	864	-			152					Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	ENST00000352371.1	37	c.442A>G		.	.	.	.	.	.	.	.	.	.	t	0.051	-1.250111	0.01469	.	.	ENSG00000100336	ENST00000352371;ENST00000332987	T;T	0.02656	4.21;4.21	2.2	-4.41	0.03590	.	0.635660	0.16943	N	0.193210	T	0.01254	0.0041	N	0.11756	0.17	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.42865	-0.9426	10	0.07030	T	0.85	.	6.3766	0.21511	0.0:0.2104:0.1397:0.6499	.	152;148	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	V	151;148	ENSP00000338260:I151V;ENSP00000333229:I148V	ENSP00000333229:I148V	I	-	1	0	APOL4	34917671	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.843000	0.04350	-2.265000	0.00688	-1.522000	0.00932	ATC		0.532	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		11	18	0	0	0	1	0	11	18				
BRIX1	55299	broad.mit.edu	37	5	34925038	34925038	+	Silent	SNP	A	A	G			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:34925038A>G	ENST00000336767.5	+	9	1113	c.750A>G	c.(748-750)ggA>ggG	p.G250G	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	250					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GTTTTGGAGGACCAACTTTAT	0.378																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(748-750)ggA>ggG		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							67.0	67.0	67.0					5																	34925038		2203	4300	6503	SO:0001819	synonymous_variant	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34925038A>G		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.750A>G	5.37:g.34925038A>G						BRIX1_ENST00000506023.1_3'UTR	p.G250G	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			9	1113	+			250					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	c.750A>G	CCDS34143.1																																																																																				0.378	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		27	38	0	0	0	1	0	27	38				
VCL	7414	broad.mit.edu	37	10	75843162	75843162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr10:75843162G>T	ENST00000211998.4	+	8	1007	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.E305*|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	305	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GATCTTAGATGAAGCTGGAAA	0.428																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(913-915)Gaa>Taa		vinculin							116.0	112.0	114.0					10																	75843162		2203	4300	6503	SO:0001587	stop_gained	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75843162G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.913G>T	10.37:g.75843162G>T	ENSP00000211998:p.Glu305*					VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.E305*|VCL_ENST00000417648.2_Intron	p.E305*	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			8	1007	+	Prostate(51;0.0112)		305			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Nonsense_Mutation	SNP	ENST00000211998.4	37	c.913G>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	39	7.524699	0.98339	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.2345	0.93853	0.0:0.0:1.0:0.0	.	.	.	.	X	305;305;212;232	.	ENSP00000211998:E305X	E	+	1	0	VCL	75513168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.545000	0.85829	0.585000	0.79938	GAA		0.428	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		21	40	1	0	9.39395e-14	1	1.00649e-13	21	40				
DCXR	51181	broad.mit.edu	37	17	79993878	79993878	+	Silent	SNP	C	C	T	rs552483270	byFrequency	TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:79993878C>T	ENST00000306869.2	-	8	742	c.693G>A	c.(691-693)acG>acA	p.T231T	RP13-650J16.1_ENST00000584705.1_RNA|RP13-650J16.1_ENST00000582558.1_RNA|DCXR_ENST00000584318.1_5'Flank	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	231					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AAGTGGAACCCGTGGTCATGC	0.622																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(691-693)acG>acA		dicarbonyl/L-xylulose reductase							66.0	56.0	60.0					17																	79993878		2203	4300	6503	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79993878C>T	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.693G>A	17.37:g.79993878C>T							p.T231T	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	742	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		231					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.693G>A	CCDS11799.1																																																																																				0.622	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			5	83	0	0	0	1	0	5	83				
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161.0	146.0	151.0					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	147	0	0	0	1	0	5	147				
PPP1R12B	4660	broad.mit.edu	37	1	202538279	202538279	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:202538279G>C	ENST00000608999.1	+	23	2969	c.2816G>C	c.(2815-2817)aGg>aCg	p.R939T	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R939T|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R165T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R165T	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	939					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAACAGGAGAGGCGAGCCTTG	0.443																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2815-2817)aGg>aCg		protein phosphatase 1, regulatory subunit 12B							114.0	110.0	111.0					1																	202538279		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202538279G>C	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2816G>C	1.37:g.202538279G>C	ENSP00000476755:p.Arg939Thr					PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R165T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R939T|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R165T	p.R939T	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		23	2969	+			939					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2816G>C	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038806	0.55003	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.56444	0.51;0.53;2.52;0.46	5.42	4.5	0.54988	.	0.087730	0.48767	D	0.000166	T	0.63224	0.2493	M	0.85630	2.765	0.41635	D	0.989047	P;P;P	0.48764	0.9;0.799;0.915	P;B;P	0.50708	0.571;0.272;0.648	T	0.68236	-0.5462	10	0.87932	D	0	.	7.2718	0.26260	0.2342:0.0:0.7658:0.0	.	165;939;939	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	T	939;939;165;165	ENSP00000384496:R939T;ENSP00000337897:R939T;ENSP00000375821:R165T;ENSP00000356239:R165T	ENSP00000337897:R939T	R	+	2	0	PPP1R12B	200804902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.691000	0.37721	1.278000	0.44430	0.655000	0.94253	AGG		0.443	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		28	48	0	0	0	1	0	28	48				
MAP2K3	5606	broad.mit.edu	37	17	21208397	21208397	+	Missense_Mutation	SNP	G	G	A	rs148612005		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:21208397G>A	ENST00000342679.4	+	9	980	c.731G>A	c.(730-732)gGc>gAc	p.G244D	MAP2K3_ENST00000316920.6_Missense_Mutation_p.G215D|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G215D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AACCAGAAGGGCTACAATGTC	0.637																																						ENST00000342679.4																			0											c.(730-732)gGc>gAc		mitogen-activated protein kinase kinase 3							181.0	154.0	163.0					17																	21208397		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208397G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.731G>A	17.37:g.21208397G>A	ENSP00000345083:p.Gly244Asp					MAP2K3_ENST00000316920.6_Missense_Mutation_p.G215D|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G215D	p.G244D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	980	+			244			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.731G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421788	0.83559	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.65549	-0.16;-0.16	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.67477	0.2897	N	0.16368	0.405	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71520	-0.4568	10	0.49607	T	0.09	-34.6173	18.5726	0.91142	0.0:0.0:1.0:0.0	.	244	P46734	MP2K3_HUMAN	D	244;215;215;248	ENSP00000345083:G244D;ENSP00000355081:G215D	ENSP00000319139:G248D	G	+	2	0	MAP2K3	21148990	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.783000	0.85696	2.387000	0.81309	0.462000	0.41574	GGC		0.637	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		16	120	0	0	0	1	0	16	120				
IMPAD1	54928	broad.mit.edu	37	8	57878868	57878868	+	Silent	SNP	A	A	G			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr8:57878868A>G	ENST00000262644.4	-	4	948	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	230					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CATTGTAGGAAGAGCGGGCTT	0.418																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(688-690)tcT>tcC		inositol monophosphatase domain containing 1							147.0	115.0	126.0					8																	57878868		2203	4300	6503	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57878868A>G		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.690T>C	8.37:g.57878868A>G							p.S230S	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			4	948	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	230					Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.690T>C	CCDS6169.1																																																																																				0.418	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		25	84	0	0	0	1	0	25	84				
USP47	55031	broad.mit.edu	37	11	11957962	11957962	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr11:11957962G>A	ENST00000399455.2	+	18	2162	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E	USP47_ENST00000527733.1_Missense_Mutation_p.G661E|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.G593E	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	681					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACACCAATGGGGCTTCTACTA	0.423																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1777-1779)gGg>gAg		ubiquitin specific peptidase 47							117.0	105.0	109.0					11																	11957962		1852	4087	5939	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11957962G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2042G>A	11.37:g.11957962G>A	ENSP00000382382:p.Gly681Glu					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.G681E|USP47_ENST00000527733.1_Missense_Mutation_p.G661E	p.G593E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	16	2541	+			681					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1778G>A		.	.	.	.	.	.	.	.	.	.	G	18.99	3.740349	0.69304	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05025	3.51;3.51;3.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.52364	1.645	0.80722	D	1	B;B	0.27316	0.11;0.175	B;B	0.34722	0.092;0.188	T	0.10965	-1.0607	10	0.34782	T	0.22	.	18.9429	0.92611	0.0:0.0:1.0:0.0	.	661;593	E9PM46;Q96K76-2	.;.	E	593;661;681	ENSP00000339957:G593E;ENSP00000433146:G661E;ENSP00000382382:G681E	ENSP00000339957:G593E	G	+	2	0	USP47	11914538	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.102000	0.94226	2.554000	0.86153	0.655000	0.94253	GGG		0.423	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		32	70	0	0	0	1	0	32	70				
ICE1	23379	broad.mit.edu	37	5	5462222	5462222	+	Silent	SNP	A	A	G			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:5462222A>G	ENST00000296564.7	+	13	2997	c.2775A>G	c.(2773-2775)tcA>tcG	p.S925S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		925					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAGCATTTCACCAGAAGTTT	0.398																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2773-2775)tcA>tcG		KIAA0947							57.0	55.0	56.0					5																	5462222		1830	4099	5929	SO:0001819	synonymous_variant	23379							g.chr5:5462222A>G																												ENST00000296564.7:c.2775A>G	5.37:g.5462222A>G							p.S925S	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2997	+			925					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.2775A>G	CCDS47187.1																																																																																				0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			11	28	0	0	0	1	0	11	28				
MSH6	2956	broad.mit.edu	37	2	48027960	48027960	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:48027960A>C	ENST00000234420.5	+	4	2990	c.2838A>C	c.(2836-2838)gaA>gaC	p.E946D	MSH6_ENST00000540021.1_Missense_Mutation_p.E816D|MSH6_ENST00000538136.1_Missense_Mutation_p.E644D|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	946					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACATAAGAGAAAATGAACAGA	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(2836-2838)gaA>gaC	Mismatch excision repair (MMR)	mutS homolog 6							45.0	45.0	45.0					2																	48027960		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027960A>C	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2838A>C	2.37:g.48027960A>C	ENSP00000234420:p.Glu946Asp					MSH6_ENST00000538136.1_Missense_Mutation_p.E644D|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E816D	p.E946D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2990	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	946					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2838A>C	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	9.717	1.158590	0.21454	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90900	-2.75;-2.75;-2.75	5.61	2.06	0.26882	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.538247	0.21758	N	0.069578	T	0.80507	0.4636	L	0.28400	0.85	0.80722	D	1	B;B;B	0.14012	0.009;0.004;0.001	B;B;B	0.17979	0.02;0.02;0.006	T	0.69217	-0.5203	10	0.44086	T	0.13	-20.2924	0.5817	0.00713	0.3609:0.2743:0.1904:0.1744	.	816;946;946	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	D	946;944;816;644	ENSP00000234420:E946D;ENSP00000446475:E816D;ENSP00000438580:E644D	ENSP00000234420:E946D	E	+	3	2	MSH6	47881464	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.720000	0.25896	0.417000	0.25871	0.460000	0.39030	GAA		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		12	29	0	0	0	1	0	12	29				
NAB2	4665	broad.mit.edu	37	12	57485584	57485584	+	Missense_Mutation	SNP	C	C	T	rs200672078		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:57485584C>T	ENST00000300131.3	+	2	1138	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	NAB2_ENST00000357680.4_Missense_Mutation_p.R254W|NAB2_ENST00000342556.6_Missense_Mutation_p.R254W|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	254					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGGATCTTCCGGAGCTTCCC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15477	0.0		0.0	False		,,,				2504	0.0					ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(760-762)Cgg>Tgg		NGFI-A binding protein 2 (EGR1 binding protein 2)							106.0	115.0	112.0					12																	57485584		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485584C>T	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.760C>T	12.37:g.57485584C>T	ENSP00000300131:p.Arg254Trp					NAB2_ENST00000342556.6_Missense_Mutation_p.R254W|NAB2_ENST00000357680.4_Missense_Mutation_p.R254W|NAB2_ENST00000554718.1_3'UTR	p.R254W	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1138	+			254					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.760C>T	CCDS8930.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.41	3.382440	0.61845	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.08	3.13	0.36017	NAB co-repressor, domain (1);	0.071142	0.52532	D	0.000063	T	0.64193	0.2576	L	0.42245	1.32	0.45046	D	0.998066	D	0.89917	1.0	D	0.70935	0.971	T	0.65990	-0.6034	9	0.72032	D	0.01	-14.9171	9.2293	0.37428	0.3604:0.6396:0.0:0.0	.	254	Q15742	NAB2_HUMAN	W	254	.	ENSP00000300131:R254W	R	+	1	2	NAB2	55771851	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	2.785000	0.47782	2.081000	0.62600	0.462000	0.41574	CGG		0.592	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		51	65	0	0	0	1	0	51	65				
PYDC1	260434	broad.mit.edu	37	16	31226130	31226130	+	IGR	SNP	C	C	T			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr16:31226130C>T	ENST00000302964.3	-	0	813				TRIM72_ENST00000322122.3_Missense_Mutation_p.P24L|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TTCGACGCGCCCGTGACAGCC	0.721																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(70-72)cCc>cTc		tripartite motif containing 72							4.0	5.0	5.0					16																	31226130		1995	3968	5963	SO:0001628	intergenic_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31226130C>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31226130C>T							p.P24L	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			2	355	+			24					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.71C>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628746	0.96671	.	.	ENSG00000177238	ENST00000322122	T	0.58940	0.3	5.1	5.1	0.69264	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000005	D	0.82407	0.5030	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87448	0.2399	10	0.87932	D	0	.	17.2765	0.87116	0.0:1.0:0.0:0.0	.	24	Q6ZMU5	TRI72_HUMAN	L	24	ENSP00000312675:P24L	ENSP00000312675:P24L	P	+	2	0	TRIM72	31133631	1.000000	0.71417	0.822000	0.32727	0.873000	0.50193	6.939000	0.75911	2.384000	0.81235	0.561000	0.74099	CCC		0.721	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		6	15	0	0	0	1	0	6	15				
SCAF11	9169	broad.mit.edu	37	12	46316920	46316920	+	Silent	SNP	A	A	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:46316920A>C	ENST00000369367.3	-	13	4157	c.3924T>G	c.(3922-3924)tcT>tcG	p.S1308S	SCAF11_ENST00000419565.2_Silent_p.S1308S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Silent_p.S993S|SCAF11_ENST00000549162.1_Silent_p.S1116S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TACTTACATGAGAAGAACTAG	0.378																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2977-2979)tcT>tcG		SR-related CTD-associated factor 11							89.0	86.0	87.0					12																	46316920		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316920A>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3924T>G	12.37:g.46316920A>C						SCAF11_ENST00000419565.2_Silent_p.S1308S|SCAF11_ENST00000369367.3_Silent_p.S1308S|SCAF11_ENST00000549162.1_Silent_p.S1116S|SCAF11_ENST00000550629.1_5'UTR	p.S993S			Q99590	SCAFB_HUMAN			3	4188	-			1308					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.2979T>G	CCDS8748.2																																																																																				0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		31	55	0	0	0	1	0	31	55				
ITGA2	3673	broad.mit.edu	37	5	52361704	52361704	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:52361704C>T	ENST00000296585.5	+	15	1983	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	614					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTTTAGGAGCCATCTCCAGTA	0.453																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1840-1842)Cat>Tat		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							105.0	102.0	103.0					5																	52361704		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52361704C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1840C>T	5.37:g.52361704C>T	ENSP00000296585:p.His614Tyr						p.H614Y	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			15	1983	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	614					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1840C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037443	0.35989	.	.	ENSG00000164171	ENST00000296585	T	0.55413	0.52	5.55	5.55	0.83447	.	0.710658	0.14542	N	0.313223	T	0.47414	0.1444	L	0.39898	1.24	0.09310	N	1	B;B	0.26512	0.084;0.151	B;B	0.26614	0.071;0.04	T	0.46762	-0.9168	10	0.66056	D	0.02	.	14.2068	0.65739	0.1486:0.8514:0.0:0.0	.	614;614	E7ESP4;P17301	.;ITA2_HUMAN	Y	614	ENSP00000296585:H614Y	ENSP00000296585:H614Y	H	+	1	0	ITGA2	52397461	0.001000	0.12720	0.009000	0.14445	0.928000	0.56348	1.625000	0.37029	2.602000	0.87976	0.650000	0.86243	CAT		0.453	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		43	15	0	0	0	1	0	43	15				
TMBIM6	7009	broad.mit.edu	37	12	50149485	50149485	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:50149485A>G	ENST00000267115.5	+	4	318	c.233A>G	c.(232-234)cAt>cGt	p.H78R	TMBIM6_ENST00000423828.1_Missense_Mutation_p.H136R|TMBIM6_ENST00000547798.1_Missense_Mutation_p.H41R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H78R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H78R|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H136R	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	78					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTCATAGCCATGAAACTGAA	0.428																																						ENST00000423828.1																			0				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(406-408)cAt>cGt		transmembrane BAX inhibitor motif containing 6							201.0	200.0	200.0					12																	50149485		2203	4300	6503	SO:0001583	missense	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50149485A>G	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.233A>G	12.37:g.50149485A>G	ENSP00000267115:p.His78Arg					TMBIM6_ENST00000547798.1_Missense_Mutation_p.H41R|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H136R|TMBIM6_ENST00000267115.5_Missense_Mutation_p.H78R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H78R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H78R	p.H136R	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN			4	735	+			78					B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	ENST00000267115.5	37	c.407A>G	CCDS31797.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.280991	0.23392	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.65	-2.36	0.06663	.	0.440273	0.26800	N	0.022425	T	0.20618	0.0496	N	0.11789	0.175	0.25414	N	0.988334	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16276	-1.0408	10	0.21540	T	0.41	.	12.4808	0.55842	0.5203:0.0:0.4797:0.0	.	78;136;78	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	R	78;78;78;78;78;136;78;78;78;78;78;136;78;78;78;78;78;41	ENSP00000450159:H78R;ENSP00000446668:H78R;ENSP00000448269:H78R;ENSP00000447400:H78R;ENSP00000448612:H78R;ENSP00000446734:H136R;ENSP00000267115:H78R;ENSP00000449904:H78R;ENSP00000448036:H78R;ENSP00000450265:H78R;ENSP00000389277:H136R;ENSP00000449907:H78R;ENSP00000450158:H78R;ENSP00000378454:H78R;ENSP00000447030:H41R	ENSP00000267115:H78R	H	+	2	0	TMBIM6	48435752	0.557000	0.26546	0.979000	0.43373	0.975000	0.68041	0.003000	0.13083	-0.560000	0.06102	0.533000	0.62120	CAT		0.428	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		94	121	0	0	0	1	0	94	121				
BAGE2	85319	broad.mit.edu	37	21	11098909	11098909	+	RNA	SNP	C	C	T			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr21:11098909C>T	ENST00000470054.1	-	0	16							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agcagctcagcgggagatacc	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098909C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098909C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	16	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	12	0	0	0	1	0	3	12				
FAM47B	170062	broad.mit.edu	37	X	34961838	34961838	+	Missense_Mutation	SNP	C	C	T	rs370213556		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chrX:34961838C>T	ENST00000329357.5	+	1	926	c.890C>T	c.(889-891)cCg>cTg	p.P297L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	297	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATCTCCACCCGGAGCCTCCT	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		10814	0.0		0.0	False		,,,				2504	0.001					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(889-891)cCg>cTg		family with sequence similarity 47, member B		C	LEU/PRO	1,3832		0,1,1630,571	55.0	54.0	54.0		890	-0.5	0.0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47B	NM_152631.2	98	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	297/646	34961838	1,10560	2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961838C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.890C>T	X.37:g.34961838C>T	ENSP00000328307:p.Pro297Leu						p.P297L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	926	+			297			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.890C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041221	0.08196	2.61E-4	0.0	ENSG00000189132	ENST00000329357	T	0.22743	1.94	0.235	-0.47	0.12131	.	.	.	.	.	T	0.10680	0.0261	N	0.16833	0.445	0.31669	N	0.644547	B	0.19583	0.037	B	0.11329	0.006	T	0.17349	-1.0372	9	0.45353	T	0.12	.	4.5926	0.12315	0.0:0.693:0.0:0.307	.	297	Q8NA70	FA47B_HUMAN	L	297	ENSP00000328307:P297L	ENSP00000328307:P297L	P	+	2	0	FAM47B	34871759	0.213000	0.23551	0.014000	0.15608	0.014000	0.08584	-1.801000	0.01743	-0.727000	0.04888	-0.724000	0.03597	CCG		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		39	14	0	0	0	1	0	39	14				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	96	0	0	0	1	0	4	96				
MARCH4	57574	broad.mit.edu	37	2	217124081	217124081	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:217124081G>A	ENST00000273067.4	-	4	2953	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	396						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCTGCCTGGGGGACTTCGCTG	0.617																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(1186-1188)cCc>cTc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							76.0	76.0	76.0					2																	217124081		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124081G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1187C>T	2.37:g.217124081G>A	ENSP00000273067:p.Pro396Leu						p.P396L	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2953	-		Renal(323;0.0854)	396					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.1187C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561600	0.27915	.	.	ENSG00000144583	ENST00000273067	T	0.13657	2.57	5.47	5.47	0.80525	.	0.872189	0.10374	N	0.682412	T	0.08626	0.0214	N	0.08118	0	0.19300	N	0.999976	B	0.17038	0.02	B	0.15484	0.013	T	0.23048	-1.0199	10	0.31617	T	0.26	-7.5873	12.0496	0.53500	0.0:0.0:0.727:0.273	.	396	Q9P2E8	MARH4_HUMAN	L	396	ENSP00000273067:P396L	ENSP00000273067:P396L	P	-	2	0	MARCH4	216832326	1.000000	0.71417	0.046000	0.18839	0.656000	0.38851	5.566000	0.67372	2.567000	0.86603	0.561000	0.74099	CCC		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		24	63	0	0	0	1	0	24	63				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	50	0	0	0	1	0	4	50				
NBPF1	55672	broad.mit.edu	37	1	16892268	16892268	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:16892268G>C	ENST00000430580.2	-	27	3811	c.2924C>G	c.(2923-2925)cCt>cGt	p.P975R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	975	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAAGACTTCAGGCTCTACTGC	0.488																																						ENST00000430580.2																			0											c.(2923-2925)cCt>cGt		neuroblastoma breakpoint family, member 1							22.0	18.0	19.0					1																	16892268		1490	2607	4097	SO:0001583	missense	55672					cytoplasm		g.chr1:16892268G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2924C>G	1.37:g.16892268G>C	ENSP00000474456:p.Pro975Arg						p.P975R	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3811	-			975			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2924C>G																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		38	689	0	0	0	1	0	38	689				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		8	101	0	0	0	1	0	8	101				
KLHL28	54813	broad.mit.edu	37	14	45403573	45403573	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr14:45403573G>T	ENST00000396128.4	-	3	1207	c.1088C>A	c.(1087-1089)aCa>aAa	p.T363K	KLHL28_ENST00000355081.2_Missense_Mutation_p.T377K	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	363										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAAGTATTTGTATCAGGATT	0.398																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1087-1089)aCa>aAa		kelch-like family member 28							121.0	113.0	115.0					14																	45403573		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45403573G>T	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1088C>A	14.37:g.45403573G>T	ENSP00000379434:p.Thr363Lys					KLHL28_ENST00000355081.2_Missense_Mutation_p.T377K	p.T363K	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1207	-			363					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1088C>A	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981280	0.53827	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.80304	-1.36;-1.36	5.38	4.47	0.54385	Kelch-type beta propeller (1);	0.251718	0.45361	D	0.000363	T	0.78181	0.4243	M	0.61703	1.905	0.54753	D	0.999985	B	0.15141	0.012	B	0.21917	0.037	T	0.75399	-0.3331	10	0.46703	T	0.11	.	13.5226	0.61576	0.0766:0.0:0.9234:0.0	.	363	Q9NXS3	KLH28_HUMAN	K	363;377	ENSP00000379434:T363K;ENSP00000347193:T377K	ENSP00000347193:T377K	T	-	2	0	KLHL28	44473323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.687000	0.54692	2.671000	0.90904	0.557000	0.71058	ACA		0.398	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			19	80	1	0	3.32936e-07	1	3.48421e-07	19	80				
CCDC85A	114800	broad.mit.edu	37	2	56599555	56599555	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:56599555G>A	ENST00000407595.2	+	4	1896	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	465										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAGCCCGGCGGGTCTTGCAG	0.522																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1393-1395)cGg>cAg		coiled-coil domain containing 85A							31.0	36.0	35.0					2																	56599555		1954	4127	6081	SO:0001583	missense	114800							g.chr2:56599555G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1394G>A	2.37:g.56599555G>A	ENSP00000384040:p.Arg465Gln					RP11-482H16.1_ENST00000607540.1_RNA	p.R465Q	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1896	+			465						Missense_Mutation	SNP	ENST00000407595.2	37	c.1394G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447234	0.43429	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	3.05	0.35203	.	0.263075	0.26262	N	0.025382	T	0.21227	0.0511	N	0.08118	0	0.28806	N	0.898516	B	0.13145	0.007	B	0.04013	0.001	T	0.13255	-1.0516	9	0.66056	D	0.02	-28.5169	7.7771	0.29043	0.2412:0.0:0.7588:0.0	.	465	Q96PX6	CC85A_HUMAN	Q	465;54	.	ENSP00000384040:R465Q	R	+	2	0	CCDC85A	56453059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.034000	0.41145	1.482000	0.48325	0.591000	0.81541	CGG		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			3	6	0	0	0	1	0	3	6				
DCC	1630	broad.mit.edu	37	18	50994336	50994336	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr18:50994336G>A	ENST00000442544.2	+	25	4308	c.3692G>A	c.(3691-3693)cGg>cAg	p.R1231Q	DCC_ENST00000581580.1_Missense_Mutation_p.R866Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1231					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGAGCCCCCCGGGCCAAGCTC	0.493																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3691-3693)cGg>cAg		deleted in colorectal carcinoma							76.0	74.0	75.0					18																	50994336		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50994336G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3692G>A	18.37:g.50994336G>A	ENSP00000389140:p.Arg1231Gln					DCC_ENST00000581580.1_Missense_Mutation_p.R866Q	p.R1231Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4308	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1231						Missense_Mutation	SNP	ENST00000442544.2	37	c.3692G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423884	0.62733	.	.	ENSG00000187323	ENST00000442544	T	0.55588	0.51	4.95	4.95	0.65309	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000007	T	0.70386	0.3218	M	0.68593	2.085	0.45502	D	0.998469	D	0.89917	1.0	D	0.97110	1.0	T	0.68409	-0.5416	10	0.33940	T	0.23	.	17.3198	0.87232	0.0:0.0:1.0:0.0	.	1231	P43146	DCC_HUMAN	Q	1231	ENSP00000389140:R1231Q	ENSP00000389140:R1231Q	R	+	2	0	DCC	49248334	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.831000	0.92068	2.441000	0.82636	0.650000	0.86243	CGG		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		24	39	0	0	0	1	0	24	39				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	113	0	0	0	1	0	5	113				
CR2	1380	broad.mit.edu	37	1	207644418	207644418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:207644418delT	ENST00000367058.3	+	8	1668	c.1479delT	c.(1477-1479)tctfs	p.S494fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.S494fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.S494fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	494	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATGTCAACTCTTCTTGTGGTG	0.468																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1477-1479)tcfs		complement component (3d/Epstein Barr virus) receptor 2							147.0	137.0	140.0					1																	207644418		2203	4300	6503	SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644418delT	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1479delT	1.37:g.207644418delT	ENSP00000356025:p.Ser494fs					CR2_ENST00000367059.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000367058.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.S494fs	p.S494fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			8	1668	+			494			Sushi 8.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	c.1479delT	CCDS1478.1																																																																																				0.468	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		51	71						51	71	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209204848	209204848	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:209204848delT	ENST00000264380.4	+	31	5082	c.4924delT	c.(4924-4926)tttfs	p.F1642fs		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1642					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCTATTCCATTTCCTTTGTA	0.373																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4924-4926)ttfs		phosphoinositide kinase, FYVE finger containing							91.0	91.0	91.0					2																	209204848		2203	4300	6503	SO:0001589	frameshift_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209204848delT	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4924delT	2.37:g.209204848delT	ENSP00000264380:p.Phe1642fs						p.F1642fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			31	5082	+			1642					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	ENST00000264380.4	37	c.4924delT	CCDS2382.1																																																																																				0.373	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		46	78						46	78	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			9	118						9	118	---	---	---	---
UBLCP1	134510	broad.mit.edu	37	5	158697638	158697638	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:158697638delT	ENST00000296786.6	+	5	761	c.435delT	c.(433-435)gatfs	p.D145fs		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	145	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGATGTTGATTATACATTAT	0.323																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(433-435)gafs		ubiquitin-like domain containing CTD phosphatase 1							66.0	65.0	66.0					5																	158697638		2203	4299	6502	SO:0001589	frameshift_variant	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158697638delT	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.435delT	5.37:g.158697638delT	ENSP00000296786:p.Asp145fs						p.D145fs	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	761	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	145			FCP1 homology.		D3DQJ7|Q96DK5	Frame_Shift_Del	DEL	ENST00000296786.6	37	c.435delT	CCDS4345.1																																																																																				0.323	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		16	27						16	27	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	lincRNA	DEL	AC	AC	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		acgcacgcaaacacacacacac	0.51																																						ENST00000606573.1																			0																																																			0							g.chr8:7191583_7191584delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191593_7191594delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.510	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		3	5						3	5	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125047624	125047628	+	Frame_Shift_Del	DEL	TAGGC	TAGGC	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr8:125047624_125047628delTAGGC	ENST00000522917.1	+	19	2599_2603	c.2393_2397delTAGGC	c.(2392-2397)gtaggcfs	p.VG798fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.VG798fs|FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACTTGCCAGTAGGCTATGAAGCAG	0.556																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2392-2397)gfs		fer-1-like 6 (C. elegans)																																				SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125047624_125047628delTAGGC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2393_2397delTAGGC	8.37:g.125047624_125047628delTAGGC	ENSP00000428280:p.Val798fs					FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.VG798fs	p.VG798fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2599_2603	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		798						Frame_Shift_Del	DEL	ENST00000522917.1	37	c.2393_2397delTAGGC	CCDS43767.1																																																																																				0.556	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		12	68						12	68	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135254513	135254514	+	Frame_Shift_Ins	INS	-	-	T	rs200153166		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr9:135254513_135254514insT	ENST00000334270.2	-	10	2435_2436	c.2396_2397insA	c.(2395-2397)tacfs	p.Y799fs	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	799					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAGTTTGAACGTAAGATGGAGG	0.297																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2395-2397)tgtfs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135254513_135254514insT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2397dupA	9.37:g.135254514_135254514dupT	ENSP00000333920:p.Tyr799fs					TTF1_ENST00000461970.1_5'UTR	p.C799fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	10	2435_2436	-		Myeloproliferative disorder(178;0.204)	799					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.2396_2397insA	CCDS6948.1																																																																																				0.297	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		28	43						28	43	---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23744098	23744098	+	RNA	DEL	G	G	-			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr22:23744098delG	ENST00000255890.4	-	0	368									zinc finger, DHHC-type containing 8 pseudogene 1																		GGCAGGCGTCGGGGGGTGGCG	0.632																																						ENST00000255890.4																			0																																																			0							g.chr22:23744098delG			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23744098delG														0	368	-									RNA	DEL	ENST00000255890.4	37																																																																																						0.632	ZDHHC8P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319397.1	NR_003950		2	4						2	4	---	---	---	---
