#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
SSC4D	136853	broad.mit.edu	37	7	76029805	76029805	+	Silent	SNP	G	G	A	rs542129562		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:76029805G>A	ENST00000275560.3	-	4	620	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.D91D(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTACGTTGGCGTCCACCACGT	0.701													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14215	0.0		0.0	False		,,,				2504	0.0					ENST00000275560.3																			1	Substitution - coding silent(1)	p.D91D(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(271-273)gaC>gaT		scavenger receptor cysteine rich domain containing, group B (4 domains)																																				SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029805G>A																												ENST00000275560.3:c.273C>T	7.37:g.76029805G>A						ZP3_ENST00000336517.4_Intron	p.D91D	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	620	-			91			SRCR 1.			Silent	SNP	ENST00000275560.3	37	c.273C>T	CCDS5585.1																																																																																				0.701	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			6	7	0	0	0	0.001984	0	6	7				
BAI1	575	broad.mit.edu	37	8	143603449	143603449	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:143603449C>T	ENST00000517894.1	+	21	4042	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1050C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTCATCCGCAAGCGCTT	0.652																																						ENST00000517894.1																			1	Substitution - Missense(1)	p.R1050C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3148-3150)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31.0	41.0	37.0					8																	143603449		2200	4299	6499	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603449C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3148C>T	8.37:g.143603449C>T	ENSP00000430945:p.Arg1050Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C	p.R1050C			O14514	BAI1_HUMAN			21	4042	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1050						Missense_Mutation	SNP	ENST00000517894.1	37	c.3148C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672201	0.88348	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39406	1.08;1.08	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.62829	0.2460	M	0.86740	2.835	0.80722	D	1	D	0.67145	0.996	P	0.56648	0.803	T	0.73388	-0.3998	10	0.87932	D	0	.	14.6053	0.68475	0.0:1.0:0.0:0.0	.	1050	E9PBK0	.	C	1050	ENSP00000430945:R1050C;ENSP00000313046:R1050C	ENSP00000313046:R1050C	R	+	1	0	BAI1	143600451	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.100000	0.50275	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	30	0	0	0	0.010729	0	10	30				
TET1	80312	broad.mit.edu	37	10	70446226	70446226	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:70446226G>A	ENST00000373644.4	+	11	5375	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1722					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.K1722K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTCCAAGGAAGGAATGG	0.498																																						ENST00000373644.4																			1	Substitution - coding silent(1)	p.K1722K(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5164-5166)aaG>aaA		tet methylcytosine dioxygenase 1							75.0	77.0	76.0					10																	70446226		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446226G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5166G>A	10.37:g.70446226G>A							p.K1722K	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			11	5375	+			1722					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5166G>A	CCDS7281.1																																																																																				0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		51	75	0	0	0	0.014410	0	51	75				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		6	288	0	0	0	0.001984	0	6	288				
DGKQ	1609	broad.mit.edu	37	4	956320	956320	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:956320T>C	ENST00000273814.3	-	18	2190	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	706	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.E706G(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCGTCGGCCTCGTCCACAGA	0.657																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			1	Substitution - Missense(1)	p.E706G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2116-2118)gAg>gGg		diacylglycerol kinase, theta 110kDa							54.0	54.0	54.0					4																	956320		2202	4298	6500	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956320T>C	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2117A>G	4.37:g.956320T>C	ENSP00000273814:p.Glu706Gly						p.E706G	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2190	-			706			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2117A>G	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.49|19.49	3.837104|3.837104	0.71373|0.71373	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.44083|.	0.93|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Diacylglycerol kinase, catalytic domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61286|0.61286	0.2335|0.2335	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.875;0.999|.	P;D|.	0.74348|.	0.864;0.983|.	T|T	0.59473|0.59473	-0.7448|-0.7448	10|5	0.72032|.	D|.	0.01|.	.|.	12.7483|12.7483	0.57293|0.57293	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	706;706|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	G|G	706|640	ENSP00000273814:E706G|.	ENSP00000273814:E706G|.	E|R	-|-	2|1	0|2	DGKQ|DGKQ	946320|946320	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.087000|0.087000	0.18053|0.18053	5.420000|5.420000	0.66441|0.66441	1.938000|1.938000	0.56188|0.56188	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.657	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			8	22	0	0	0	0.004482	0	8	22				
CTTNBP2	83992	broad.mit.edu	37	7	117386131	117386131	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:117386131A>T	ENST00000160373.3	-	13	3462	c.3371T>A	c.(3370-3372)aTt>aAt	p.I1124N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1124					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.I1124N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCGTGGAAAATGACATTATG	0.398											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000160373.3																			1	Substitution - Missense(1)	p.I1124N(1)	prostate(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3370-3372)aTt>aAt		cortactin binding protein 2							139.0	128.0	132.0					7																	117386131		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117386131A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3371T>A	7.37:g.117386131A>T	ENSP00000160373:p.Ile1124Asn		OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1480		p.I1124N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3462	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1124					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3371T>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.610605|4.610605	0.87258|0.87258	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.76060	.|-0.99	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.188326	.|0.56097	.|D	.|0.000027	D|D	0.83880|0.83880	0.5350|0.5350	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.59767	.|0.986	.|P	.|0.52514	.|0.701	D|D	0.86921|0.86921	0.2067|0.2067	5|10	.|0.87932	.|D	.|0	-11.9651|-11.9651	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1124	.|Q8WZ74	.|CTTB2_HUMAN	Q|N	611|1124	.|ENSP00000160373:I1124N	.|ENSP00000160373:I1124N	H|I	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117173367|117173367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.077000|7.077000	0.76814|0.76814	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.398	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		24	47	0	0	0	0.018920	0	24	47				
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr5:126771182G>C	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e17+1		multiple EGF-like-domains 10							96.0	80.0	85.0					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771182G>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>C	5.37:g.126771182G>C						MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2371	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760872	0.89932	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	15	17	0	0	0	0.002450	0	15	17				
IGHG1	3500	broad.mit.edu	37	14	106208715	106208715	+	RNA	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr14:106208715T>G	ENST00000390548.2	-	0	302							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTCACAAGATTTGGGCTCTG	0.582																																						ENST00000390548.2																			0																				169.0	166.0	167.0					14																	106208715		1978	4148	6126			0							g.chr14:106208715T>G	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208715T>G														0	302	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.582	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		91	130	0	0	0	0.014410	0	91	130				
HSPA6	3310	broad.mit.edu	37	1	161494903	161494903	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161494903T>G	ENST00000309758.4	+	1	868	c.455T>G	c.(454-456)tTc>tGc	p.F152C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	152					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.F152C(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCGCCTATTTCAATGACTCG	0.632																																						ENST00000309758.4																			2	Substitution - Missense(2)	p.F152C(2)	prostate(2)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(454-456)tTc>tGc		heat shock 70kDa protein 6 (HSP70B')							30.0	33.0	32.0					1																	161494903		2199	4299	6498	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494903T>G		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.455T>G	1.37:g.161494903T>G	ENSP00000310219:p.Phe152Cys						p.F152C	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	868	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		152					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.455T>G	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.619757	0.46736	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.02067	4.47	3.43	3.43	0.39272	.	0.000000	0.45606	U	0.000355	T	0.19967	0.0480	H	0.99970	5.12	0.50813	D	0.999899	D	0.89917	1.0	D	0.85130	0.997	T	0.44892	-0.9298	10	0.87932	D	0	-10.3555	9.8777	0.41213	0.0:0.0:0.0:1.0	.	152	P17066	HSP76_HUMAN	C	152;128	ENSP00000310219:F152C	ENSP00000310219:F152C	F	+	2	0	HSPA6	159761527	1.000000	0.71417	0.619000	0.29118	0.358000	0.29455	4.119000	0.57891	1.409000	0.46915	0.478000	0.44815	TTC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		17	44	0	0	0	0.006122	0	17	44				
SLC45A4	57210	broad.mit.edu	37	8	142222492	142222492	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:142222492C>T	ENST00000024061.3	-	7	2259	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000519067.1_Missense_Mutation_p.G651D	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G651D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAAAGAGCCCACAGAGGC	0.627																																						ENST00000519067.1																			1	Substitution - Missense(1)	p.G651D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1951-1953)gGc>gAc		solute carrier family 45, member 4							59.0	61.0	61.0					8																	142222492		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142222492C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1952G>A	8.37:g.142222492C>T	ENSP00000024061:p.Gly651Asp					SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D	p.G651D			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2255	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		702					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1952G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166974	0.94768	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89754	0.3942	10	0.51188	T	0.08	-43.6499	18.9005	0.92440	0.0:1.0:0.0:0.0	.	702;651;651	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	D	651;702;644;651	ENSP00000429059:G651D;ENSP00000428137:G702D;ENSP00000400799:G644D;ENSP00000024061:G651D	ENSP00000024061:G651D	G	-	2	0	SLC45A4	142291674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.272000	0.78516	2.453000	0.82957	0.655000	0.94253	GGC		0.627	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		18	37	0	0	0	0.010504	0	18	37				
PRSS58	136541	broad.mit.edu	37	7	141952406	141952406	+	Silent	SNP	A	A	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:141952406A>C	ENST00000552471.1	-	4	781	c.462T>G	c.(460-462)acT>acG	p.T154T	PRSS58_ENST00000547058.2_Silent_p.T154T			Q8IYP2	PRS58_HUMAN	protease, serine, 58	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T154T(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGTTCACAGTTTGCAGTG	0.383																																						ENST00000552471.1																			2	Substitution - coding silent(2)	p.T154T(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(460-462)acT>acG		protease, serine, 58							134.0	126.0	129.0					7																	141952406		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952406A>C		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.462T>G	7.37:g.141952406A>C						PRSS58_ENST00000547058.2_Silent_p.T154T	p.T154T			Q8IYP2	PRS58_HUMAN			4	781	-			154			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.462T>G	CCDS5871.1																																																																																				0.383	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		9	229	0	0	0	0.006214	0	9	229				
PLPPR5	163404	broad.mit.edu	37	1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:99422183G>A	ENST00000263177.4	-	2	573	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.R118*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		118						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358																																						ENST00000370188.3																			1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)								c.(352-354)Cga>Tga									63.0	67.0	66.0					1																	99422183		2202	4300	6502	SO:0001587	stop_gained	0					integral to membrane	hydrolase activity	g.chr1:99422183G>A																												ENST00000263177.4:c.352C>T	1.37:g.99422183G>A	ENSP00000263177:p.Arg118*					LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118*	p.R118*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	712	-			118					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	ENST00000263177.4	37	c.352C>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	37	6.375200	0.97515	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.74	-0.68	0.11346	.	0.066699	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0516	0.64739	0.0:0.0:0.2126:0.7874	.	.	.	.	X	118	.	ENSP00000263177:R118X	R	-	1	2	AL161744.1	99194771	0.994000	0.37717	0.970000	0.41538	0.996000	0.88848	0.449000	0.21744	0.102000	0.17638	0.591000	0.81541	CGA		0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			25	28	0	0	0	0.018920	0	25	28				
ABCB1	5243	broad.mit.edu	37	7	87138593	87138593	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:87138593T>C	ENST00000265724.3	-	27	3904	c.3487A>G	c.(3487-3489)Aat>Gat	p.N1163D	ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1163	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.N1163D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGACTTACATTAGGCAGTGAC	0.493																																						ENST00000265724.3																			1	Substitution - Missense(1)	p.N1163D(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3487-3489)Aat>Gat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						142.0	123.0	129.0					7																	87138593		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138593T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3487A>G	7.37:g.87138593T>C	ENSP00000265724:p.Asn1163Asp					ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	p.N1163D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3904	-	Esophageal squamous(14;0.00164)		1163			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3487A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	7.550	0.662455	0.14645	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89875	-2.58;-2.58	5.93	-1.45	0.08828	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.978011	0.08459	N	0.942728	T	0.73442	0.3587	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57201	-0.7852	10	0.15066	T	0.55	-1.1918	5.8532	0.18704	0.0:0.3687:0.2258:0.4055	.	1099;1163	B5AK60;P08183	.;MDR1_HUMAN	D	944;1163;1099	ENSP00000265724:N1163D;ENSP00000444095:N1099D	ENSP00000265724:N1163D	N	-	1	0	ABCB1	86976529	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.339000	0.07832	-0.321000	0.08627	-0.468000	0.05107	AAT		0.493	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	178	0	0	0	0.014323	0	23	178				
SIRPB1	10326	broad.mit.edu	37	20	1600530	1600530	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:1600530G>A	ENST00000381605.4	-	1	125	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381603.3_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	21					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L21L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTCTCCCCAGCAGTAGCGTC	0.562																																						ENST00000381605.4																			1	Substitution - coding silent(1)	p.L21L(1)	prostate(1)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(61-63)Ctg>Ttg		signal-regulatory protein beta 1							95.0	85.0	89.0					20																	1600530		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600530G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.61C>T	20.37:g.1600530G>A						SIRPB1_ENST00000568365.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.L21L	p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			1	125	-			21					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.61C>T	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		28	41	0	0	0	0.007291	0	28	41				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	190	0	0	0	0.001168	0	6	190				
C1orf192	257177	broad.mit.edu	37	1	161334829	161334829	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161334829A>G	ENST00000367974.1	-	5	465	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	154								p.S154P(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATCTGGGGAATTGAGGTTG	0.498																																						ENST00000367974.1																			1	Substitution - Missense(1)	p.S154P(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(460-462)Tcc>Ccc		chromosome 1 open reading frame 192							275.0	257.0	263.0					1																	161334829		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161334829A>G		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.460T>C	1.37:g.161334829A>G	ENSP00000356951:p.Ser154Pro						p.S154P	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	465	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		154						Missense_Mutation	SNP	ENST00000367974.1	37	c.460T>C	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229893	0.22542	.	.	ENSG00000188931	ENST00000367974	.	.	.	4.35	3.18	0.36537	.	0.427419	0.21040	N	0.081185	T	0.14056	0.0340	L	0.36672	1.1	0.25027	N	0.991297	P	0.47191	0.891	B	0.37943	0.261	T	0.05053	-1.0909	8	0.59425	D	0.04	-3.1987	6.8915	0.24232	0.7851:0.0:0.0:0.2149	.	154	Q5VTH2	CA192_HUMAN	P	154	.	ENSP00000356951:S154P	S	-	1	0	C1orf192	159601453	0.000000	0.05858	0.108000	0.21378	0.869000	0.49853	0.353000	0.20130	0.759000	0.33084	0.533000	0.62120	TCC		0.498	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		35	70	0	0	0	0.013726	0	35	70				
TGOLN2	10618	broad.mit.edu	37	2	85553644	85553644	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:85553644T>C	ENST00000409232.3	-	2	1272	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	TGOLN2_ENST00000377386.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R			O43493	TGON2_HUMAN	trans-golgi network protein 2	404						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.H404R(1)									CCGCTTGTTGTGATGAGCGAT	0.562																																						ENST00000377386.3																			1	Substitution - Missense(1)	p.H404R(1)	prostate(1)								c.(1210-1212)cAc>cGc		trans-golgi network protein 2							63.0	63.0	63.0					2																	85553644		1933	4142	6075	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85553644T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1211A>G	2.37:g.85553644T>C	ENSP00000386443:p.His404Arg					TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R	p.H404R			O43493	TGON2_HUMAN			2	1673	-			404					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1211A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226120	0.79576	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.44881	1.05;1.47;0.91;1.14;1.02;1.05	4.68	4.68	0.58851	.	.	.	.	.	T	0.59074	0.2167	L	0.59436	1.845	0.44302	D	0.997171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.62581	-0.6824	9	0.87932	D	0	-28.7016	12.1345	0.53964	0.0:0.0:0.0:1.0	.	404;404;346;404	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	404;248;346;404;404;404	ENSP00000366603:H404R;ENSP00000282120:H248R;ENSP00000381312:H346R;ENSP00000386443:H404R;ENSP00000387035:H404R;ENSP00000391190:H404R	ENSP00000282120:H248R	H	-	2	0	TGOLN2	85407155	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.993000	0.76245	1.967000	0.57214	0.533000	0.62120	CAC		0.562	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		26	41	0	0	0	0.005443	0	26	41				
EFCAB14	9813	broad.mit.edu	37	1	47149017	47149017	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:47149017C>T	ENST00000371933.3	-	10	2243	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14_ENST00000484461.1_5'Flank|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	423							calcium ion binding (GO:0005509)	p.A423T(1)									CTTAGTTGGGCAGCTTTCTCA	0.388																																						ENST00000371933.3																			1	Substitution - Missense(1)	p.A423T(1)	prostate(1)								c.(1267-1269)Gcc>Acc		EF-hand calcium binding domain 14							118.0	121.0	120.0					1																	47149017		2203	4300	6503	SO:0001583	missense	9813							g.chr1:47149017C>T	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1267G>A	1.37:g.47149017C>T	ENSP00000361001:p.Ala423Thr					EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14-AS1_ENST00000418985.1_RNA	p.A423T	NM_014774.2	NP_055589.1					10	2243	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1267G>A	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254037	0.22965	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.22945	2.31;1.93	4.83	-1.93	0.07594	.	1.133420	0.06335	N	0.706922	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.27262	-1.0079	10	0.05833	T	0.94	-1.0158	2.5236	0.04686	0.1163:0.3609:0.1141:0.4087	.	215;359;423	B7Z3D1;F5H7K3;O75071	.;.;K0494_HUMAN	T	359;423	ENSP00000442465:A359T;ENSP00000361001:A423T	ENSP00000361001:A423T	A	-	1	0	KIAA0494	46921604	0.000000	0.05858	0.198000	0.23420	0.969000	0.65631	-0.544000	0.06077	-0.447000	0.07138	0.655000	0.94253	GCC		0.388	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		33	60	0	0	0	0.013726	0	33	60				
ZZEF1	23140	broad.mit.edu	37	17	3980274	3980274	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:3980274T>G	ENST00000381638.2	-	20	3123	c.2999A>C	c.(2998-3000)cAg>cCg	p.Q1000P	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1000							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q1000P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCAGAAACTGGCCCACATC	0.363																																						ENST00000381638.2																			1	Substitution - Missense(1)	p.Q1000P(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2998-3000)cAg>cCg		zinc finger, ZZ-type with EF-hand domain 1							51.0	50.0	50.0					17																	3980274		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3980274T>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2999A>C	17.37:g.3980274T>G	ENSP00000371051:p.Gln1000Pro					ZZEF1_ENST00000574474.1_5'UTR	p.Q1000P	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			20	3123	-			1000					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2999A>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336564	0.60963	.	.	ENSG00000074755	ENST00000381638	T	0.23147	1.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.29908	0.895	0.54753	D	0.99998	D;D	0.69078	0.996;0.997	P;P	0.61275	0.886;0.824	T	0.06110	-1.0845	10	0.49607	T	0.09	-15.5697	10.9776	0.47475	0.1393:0.0:0.0:0.8607	.	1001;1000	O43149-3;O43149	.;ZZEF1_HUMAN	P	1000	ENSP00000371051:Q1000P	ENSP00000371051:Q1000P	Q	-	2	0	ZZEF1	3927023	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	4.303000	0.59098	2.155000	0.67459	0.459000	0.35465	CAG		0.363	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		18	40	0	0	0	0.004990	0	18	40				
TWF1	5756	broad.mit.edu	37	12	44189532	44189532	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr12:44189532C>A	ENST00000395510.2	-	9	1038	c.909G>T	c.(907-909)ttG>ttT	p.L303F	TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	303	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L303F(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGTCTGCAGTCAACTCATCCC	0.383																																						ENST00000395510.2																			1	Substitution - Missense(1)	p.L303F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(907-909)ttG>ttT		twinfilin actin-binding protein 1							101.0	96.0	98.0					12																	44189532		2203	4300	6503	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44189532C>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.909G>T	12.37:g.44189532C>A	ENSP00000378886:p.Leu303Phe					TWF1_ENST00000548315.1_Missense_Mutation_p.L310F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000552521.1_Missense_Mutation_p.L205F	p.L303F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	9	1038	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	303			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.909G>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946387	0.53079	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.38	4.47	0.54385	Actin-binding, cofilin/tropomyosin type (2);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69266	-0.5190	10	0.66056	D	0.02	-20.1605	12.6526	0.56770	0.0:0.8725:0.0:0.1275	.	310;303	Q12792-3;Q12792	.;TWF1_HUMAN	F	205;303;337;310	ENSP00000448750:L205F;ENSP00000378886:L303F;ENSP00000321058:L337F;ENSP00000449428:L310F	ENSP00000321058:L337F	L	-	3	2	TWF1	42475799	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.362000	0.34148	2.683000	0.91414	0.561000	0.74099	TTG		0.383	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		38	59	1	0	8.69298e-16	0.006999	1.00656e-15	38	59				
MAP3K10	4294	broad.mit.edu	37	19	40698519	40698519	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40698519A>G	ENST00000253055.3	+	1	869	c.581A>G	c.(580-582)cAc>cGc	p.H194R	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.H194R(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGCCACCTCACGTGCTGGTC	0.642																																						ENST00000253055.3																			2	Substitution - Missense(2)	p.H194R(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(580-582)cAc>cGc		mitogen-activated protein kinase kinase kinase 10							46.0	41.0	43.0					19																	40698519		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698519A>G	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.581A>G	19.37:g.40698519A>G	ENSP00000253055:p.His194Arg					MAP3K10_ENST00000593906.1_Intron	p.H194R	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			1	869	+			194			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.581A>G	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027304	0.35797	.	.	ENSG00000130758	ENST00000253055	D	0.82081	-1.57	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125015	0.51477	D	0.000083	T	0.62380	0.2423	N	0.02721	-0.515	0.36493	D	0.868567	B	0.10296	0.003	B	0.18263	0.021	T	0.62671	-0.6805	10	0.14252	T	0.57	.	12.5767	0.56367	1.0:0.0:0.0:0.0	.	194	Q02779	M3K10_HUMAN	R	194	ENSP00000253055:H194R	ENSP00000253055:H194R	H	+	2	0	MAP3K10	45390359	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	3.478000	0.53158	2.074000	0.62210	0.459000	0.35465	CAC		0.642	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		10	17	0	0	0	0.010729	0	10	17				
IGKV2-24	28923	broad.mit.edu	37	2	89475970	89475970	+	RNA	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:89475970G>C	ENST00000484817.1	-	0	231									immunoglobulin kappa variable 2-24																		AGTCTTGGAGGCTGGCCTGGC	0.522																																						ENST00000484817.1																			0																				111.0	111.0	111.0					2																	89475970		1832	4077	5909			0							g.chr2:89475970G>C	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475970G>C														0	231	-									RNA	SNP	ENST00000484817.1	37																																																																																						0.522	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		6	213	0	0	0	0.001168	0	6	213				
FBLN2	2199	broad.mit.edu	37	3	13663379	13663379	+	Intron	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:13663379G>T	ENST00000295760.7	+	8	2224				FBLN2_ENST00000404922.3_Missense_Mutation_p.D754Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.D754Y(1)|p.D173Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTCTGTGCCGATGGCTATAT	0.612																																						ENST00000404922.3																			2	Substitution - Missense(2)	p.D754Y(1)|p.D173Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2260-2262)Gat>Tat		fibulin 2							81.0	87.0	85.0					3																	13663379		2088	4213	6301	SO:0001627	intron_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13663379G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+2048G>T	3.37:g.13663379G>T						FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	p.D754Y	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		9	2379	+			753			EGF-like 3; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2260G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783192	0.49891	.	.	ENSG00000163520	ENST00000404922;ENST00000492059	D;D	0.92595	-3.07;-3.07	5.27	2.45	0.29901	.	0.865178	0.09766	U	0.758667	D	0.89157	0.6635	L	0.33792	1.035	0.80722	D	1	P	0.46952	0.887	P	0.46479	0.518	T	0.82238	-0.0556	10	0.66056	D	0.02	.	9.1202	0.36782	0.0768:0.3057:0.6175:0.0	.	754	P98095-2	.	Y	754	ENSP00000384169:D754Y;ENSP00000420042:D754Y	ENSP00000384169:D754Y	D	+	1	0	FBLN2	13638380	0.989000	0.36119	0.808000	0.32385	0.747000	0.42532	2.066000	0.41452	0.190000	0.20209	0.579000	0.79373	GAT		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		11	27	1	0	3.07112e-06	0.010729	3.43549e-06	11	27				
LAMA4	3910	broad.mit.edu	37	6	112441551	112441551	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:112441551T>G	ENST00000230538.7	-	33	4997	c.4600A>C	c.(4600-4602)Aat>Cat	p.N1534H	LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1534	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N1527H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGACCAACATTAAACATGTAA	0.418																																						ENST00000230538.7																			1	Substitution - Missense(1)	p.N1527H(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4600-4602)Aat>Cat		laminin, alpha 4							125.0	118.0	120.0					6																	112441551		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112441551T>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4600A>C	6.37:g.112441551T>G	ENSP00000230538:p.Asn1534His					LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H	p.N1534H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	33	4997	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1534			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4600A>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465301	0.84425	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.044369	0.85682	D	0.000000	D	0.87954	0.6308	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89268	0.3602	10	0.62326	D	0.03	.	16.1475	0.81580	0.0:0.0:0.0:1.0	.	1534;1527	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1534;1527;1527;1527	ENSP00000230538:N1534H;ENSP00000429488:N1527H;ENSP00000374114:N1527H;ENSP00000416470:N1527H	ENSP00000230538:N1534H	N	-	1	0	LAMA4	112548244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.316000	0.65815	2.213000	0.71641	0.528000	0.53228	AAT		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		20	16	0	0	0	0.008871	0	20	16				
ATRX	546	broad.mit.edu	37	X	76891438	76891438	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:76891438A>G	ENST00000373344.5	-	16	4881	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T	ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1556					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.M1556T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTGATAACCATATTTCTATG	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.M1556T(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4666-4668)aTg>aCg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						79.0	65.0	70.0					X																	76891438		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76891438A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4667T>C	X.37:g.76891438A>G	ENSP00000362441:p.Met1556Thr					ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	p.M1556T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			16	4881	-			1556					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4667T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759941	0.49468	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.23552	1.9;1.9	5.46	5.46	0.80206	DEAD-like helicase (1);	0.139619	0.49916	U	0.000133	T	0.28995	0.0720	L	0.36672	1.1	0.80722	D	1	P;P	0.51351	0.944;0.918	P;B	0.47402	0.546;0.428	T	0.03807	-1.1002	10	0.87932	D	0	-8.0909	14.5883	0.68344	1.0:0.0:0.0:0.0	.	1518;1556	P46100-4;P46100	.;ATRX_HUMAN	T	1556;1518	ENSP00000362441:M1556T;ENSP00000378967:M1518T	ENSP00000362441:M1556T	M	-	2	0	ATRX	76778094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	1.826000	0.53198	0.486000	0.48141	ATG		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	5	0	0	0	0.004990	0	18	5				
IFT122	55764	broad.mit.edu	37	3	129188218	129188218	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:129188218C>G	ENST00000348417.2	+	9	851	c.774C>G	c.(772-774)gaC>gaG	p.D258E	IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E|IFT122_ENST00000296266.3_Missense_Mutation_p.D309E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	258					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D309E(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGTGGCTGACTGGGGACAGA	0.443																																						ENST00000296266.3																			1	Substitution - Missense(1)	p.D309E(1)	prostate(1)	breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(925-927)gaC>gaG		intraflagellar transport 122 homolog (Chlamydomonas)							140.0	141.0	141.0					3																	129188218		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129188218C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.774C>G	3.37:g.129188218C>G	ENSP00000324005:p.Asp258Glu					IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E	p.D309E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			10	1119	+			258					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.927C>G	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940626|3.940626	0.73557|0.73557	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000511498|ENST00000512157;ENST00000515783	T;T;T;D;T;T;T;D;T|.	0.90324|.	-0.25;1.52;1.52;-2.65;1.51;1.51;-0.25;-2.65;2.25|.	5.88|5.88	2.16|2.16	0.27623|0.27623	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.35644|0.35644	1.08|1.08	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P;P;D;D|.	0.67145|.	0.996;0.994;0.928;0.884;0.823;0.889;0.994;0.996|.	D;D;P;P;P;P;D;D|.	0.77557|.	0.99;0.97;0.677;0.465;0.566;0.749;0.978;0.99|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.45353|.	T|.	0.12|.	-35.1221|-35.1221	9.8127|9.8127	0.40833|0.40833	0.0:0.669:0.0:0.331|0.0:0.669:0.0:0.331	.|.	49;250;152;98;147;199;258;309|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	E|V	199;309;250;199;108;152;147;258;98;49;49|137;85	ENSP00000323973:D199E;ENSP00000296266:D309E;ENSP00000425536:D250E;ENSP00000410946:D108E;ENSP00000422179:D152E;ENSP00000324165:D147E;ENSP00000324005:D258E;ENSP00000401569:D49E;ENSP00000422237:D49E|.	ENSP00000296266:D309E|.	D|L	+|+	3|1	2|2	IFT122|IFT122	130670908|130670908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.912000|0.912000	0.28597|0.28597	0.117000|0.117000	0.18138|0.18138	0.655000|0.655000	0.94253|0.94253	GAC|CTG		0.443	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		63	79	0	0	0	0.014410	0	63	79				
MKI67	4288	broad.mit.edu	37	10	129901213	129901213	+	Missense_Mutation	SNP	C	C	G	rs267602414		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:129901213C>G	ENST00000368654.3	-	13	9266	c.8891G>C	c.(8890-8892)cGg>cCg	p.R2964P	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493																																						ENST00000368654.3																			1	Substitution - Missense(1)	p.R2964P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8890-8892)cGg>cCg		marker of proliferation Ki-67							87.0	91.0	89.0					10																	129901213		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901213C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8891G>C	10.37:g.129901213C>G	ENSP00000357643:p.Arg2964Pro					MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	p.R2964P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9266	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2964					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8891G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402712	0.42613	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02812	4.19;4.15	4.05	2.58	0.30949	.	0.306550	0.23391	N	0.048693	T	0.05960	0.0155	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.37361	-0.9709	10	0.25106	T	0.35	.	7.1254	0.25469	0.0:0.8376:0.0:0.1624	.	2963;2604;2964	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	2964;2604;2963	ENSP00000357643:R2964P;ENSP00000357642:R2604P	ENSP00000357642:R2604P	R	-	2	0	MKI67	129791203	0.003000	0.15002	0.006000	0.13384	0.013000	0.08279	0.589000	0.23939	0.874000	0.35823	0.561000	0.74099	CGG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		58	133	0	0	0	0.014410	0	58	133				
SPAG16	79582	broad.mit.edu	37	2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	rs142357329	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438																																						ENST00000331683.5																			2	Substitution - Missense(2)	p.R437C(2)	prostate(2)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1309-1311)Cgc>Tgc		sperm associated antigen 16		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	113.0	112.0	113.0		1309	5.5	0.8	2	dbSNP_134	113	0,8600		0,0,4300	no	missense	SPAG16	NM_024532.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	437/632	214794778	2,13004	2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794778C>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1309C>T	2.37:g.214794778C>T	ENSP00000332592:p.Arg437Cys					SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	p.R437C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1404	+		Renal(323;0.00461)	437					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1309C>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923469	0.52653	4.54E-4	0.0	ENSG00000144451	ENST00000331683;ENST00000374309	D;D	0.81499	-1.5;-1.5	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.332871	0.28376	N	0.015577	D	0.82674	0.5088	L	0.43923	1.385	0.40789	D	0.983242	D;D;D;D	0.58620	0.983;0.979;0.967;0.983	B;B;P;B	0.53062	0.417;0.409;0.717;0.417	D	0.83392	0.0018	10	0.46703	T	0.11	.	17.8902	0.88870	0.0:1.0:0.0:0.0	.	343;288;377;437	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	C	437;343	ENSP00000332592:R437C;ENSP00000363428:R343C	ENSP00000332592:R437C	R	+	1	0	SPAG16	214503023	0.565000	0.26610	0.839000	0.33178	0.039000	0.13416	3.522000	0.53480	2.550000	0.86006	0.655000	0.94253	CGC		0.438	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		49	50	0	0	0	0.014410	0	49	50				
TPTE2	93492	broad.mit.edu	37	13	20049751	20049751	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr13:20049751C>A	ENST00000400230.2	-	5	236	c.192G>T	c.(190-192)aaG>aaT	p.K64N	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	64					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K64N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACAATTTTCTTAATCTTGC	0.299																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.K64N(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(190-192)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							27.0	28.0	28.0					13																	20049751		2199	4293	6492	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20049751C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.192G>T	13.37:g.20049751C>A	ENSP00000383089:p.Lys64Asn					TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000400103.2_Intron	p.K64N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	5	236	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	64					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.192G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.616070	0.28801	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D	0.96168	-3.93;-3.58;-3.58;-3.93	2.39	1.54	0.23209	.	0.463681	0.21047	U	0.081064	D	0.94801	0.8321	L	0.54323	1.7	0.09310	N	0.999999	D	0.71674	0.998	P	0.59546	0.859	D	0.87759	0.2597	9	.	.	.	-5.1118	5.0849	0.14676	0.0:0.8267:0.0:0.1733	.	64	Q6XPS3	TPTE2_HUMAN	N	64	ENSP00000372438:K64N;ENSP00000383089:K64N;ENSP00000372437:K64N;ENSP00000372435:K64N	.	K	-	3	2	TPTE2	18947751	0.154000	0.22792	0.009000	0.14445	0.002000	0.02628	0.236000	0.17967	0.571000	0.29365	-0.373000	0.07131	AAG		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		20	33	1	0	2.27731e-05	0.012319	2.50504e-05	20	33				
C19orf47	126526	broad.mit.edu	37	19	40832339	40832339	+	Missense_Mutation	SNP	C	C	T	rs534758453		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40832339C>T	ENST00000582783.1	-	7	617	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	202						nucleus (GO:0005634)		p.R135Q(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCAGTGACCCGGCGCCGCTT	0.627																																						ENST00000582783.1																			1	Substitution - Missense(1)	p.R135Q(1)	prostate(1)	endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(604-606)cGg>cAg		chromosome 19 open reading frame 47							87.0	68.0	75.0					19																	40832339		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40832339C>T	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.605G>A	19.37:g.40832339C>T	ENSP00000463159:p.Arg202Gln					C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	p.R202Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		7	617	-			202					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.605G>A	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908725	0.97093	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99532	-6.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.80746	2.51	0.80722	D	1	D	0.53885	0.963	B	0.41723	0.365	D	0.99940	1.1397	10	0.29301	T	0.29	0.0	18.2475	0.89991	0.0:1.0:0.0:0.0	.	202	Q8N9M1	CS047_HUMAN	Q	202;135	ENSP00000375889:R135Q	ENSP00000350556:R202Q	R	-	2	0	C19orf47	45524179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.065000	0.76727	2.618000	0.88619	0.462000	0.41574	CGG		0.627	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		11	26	0	0	0	0.010729	0	11	26				
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.P44L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)cCg>cTg		protease, serine, 50							36.0	40.0	39.0					3																	46759103		2202	4298	6500	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759103G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.131C>T	3.37:g.46759103G>A	ENSP00000418875:p.Pro44Leu					PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L	p.P44L			Q9UI38	TSP50_HUMAN			7	1801	-			44						Missense_Mutation	SNP	ENST00000460241.1	37	c.131C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014302	0.07959	.	.	ENSG00000206549	ENST00000315170;ENST00000460241	D;D	0.89552	-2.53;-2.53	3.29	-1.01	0.10169	.	1.022730	0.07856	N	0.965422	T	0.76884	0.4050	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.58864	-0.7561	9	.	.	.	.	4.5313	0.12006	0.2662:0.4115:0.3224:0.0	.	44	Q9UI38	TSP50_HUMAN	L	44	ENSP00000326598:P44L;ENSP00000418875:P44L	.	P	-	2	0	PRSS50	46734107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	-0.241000	0.09681	-1.240000	0.01540	CCG		0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			12	17	0	0	0	0.010729	0	12	17				
ACAP1	9744	broad.mit.edu	37	17	7250419	7250419	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:7250419C>T	ENST00000158762.3	+	14	1407	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	401					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P401S(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGGAAGGGAGCCTGGGGGAGT	0.677																																						ENST00000158762.3																			1	Substitution - Missense(1)	p.P401S(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1201-1203)Cct>Tct		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							34.0	38.0	37.0					17																	7250419		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250419C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1201C>T	17.37:g.7250419C>T	ENSP00000158762:p.Pro401Ser						p.P401S	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			14	1407	+			401					Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1201C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	2.428	-0.331418	0.05314	.	.	ENSG00000072818	ENST00000158762	T	0.73152	-0.72	4.77	-0.754	0.11065	.	0.593042	0.16927	N	0.193828	T	0.41396	0.1157	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.08837	T	0.75	.	8.0133	0.30365	0.0:0.4683:0.0:0.5317	.	401	Q15027	ACAP1_HUMAN	S	401	ENSP00000158762:P401S	ENSP00000158762:P401S	P	+	1	0	ACAP1	7191143	0.000000	0.05858	0.776000	0.31678	0.625000	0.37756	-0.512000	0.06313	-0.020000	0.14032	0.462000	0.41574	CCT		0.677	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	40	0	0	0	0.001984	0	7	40				
XIST	7503	broad.mit.edu	37	X	73066388	73066388	+	lincRNA	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:73066388G>T	ENST00000429829.1	-	0	6200					NR_001564.2				X inactive specific transcript (non-protein coding)																		AATGAGCAGTGTGCGATTACG	0.463																																						ENST00000429829.1																			0																				207.0	176.0	186.0					X																	73066388		876	1991	2867			0							g.chrX:73066388G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066388G>T								NR_001564.2						0	6200	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		63	15	1	0	2.01871e-26	0.014410	2.3792e-26	63	15				
SLC27A4	10999	broad.mit.edu	37	9	131107632	131107632	+	Silent	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr9:131107632C>G	ENST00000300456.4	+	3	477	c.360C>G	c.(358-360)gcC>gcG	p.A120A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	120					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A120A(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGCAGGCCCGGGGCCTGG	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			1	Substitution - coding silent(1)	p.A120A(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(358-360)gcC>gcG		solute carrier family 27 (fatty acid transporter), member 4							57.0	52.0	54.0					9																	131107632		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107632C>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.360C>G	9.37:g.131107632C>G						SLC27A4_ENST00000372870.1_Intron	p.A120A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	477	+			120					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.360C>G	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			16	29	0	0	0	0.004007	0	16	29				
NID1	4811	broad.mit.edu	37	1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697																																						ENST00000264187.6																			1	Substitution - Missense(1)	p.R901H(1)	prostate(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2701-2703)cGc>cAc		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						20.0	20.0	20.0					1																	236156998		2200	4297	6497	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236156998C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2702G>A	1.37:g.236156998C>T	ENSP00000264187:p.Arg901His					NID1_ENST00000366595.3_Missense_Mutation_p.R768H	p.R901H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2784	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	901			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2702G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023124	0.93462	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.64991	-0.13;-0.13	5.69	4.78	0.61160	Thyroglobulin type-1 (6);	0.102238	0.64402	D	0.000002	T	0.76779	0.4035	M	0.79693	2.465	0.28115	N	0.930829	D;D	0.71674	0.998;0.996	P;P	0.61722	0.819;0.893	T	0.73069	-0.4099	10	0.45353	T	0.12	.	14.0528	0.64749	0.0:0.9269:0.0:0.0731	.	768;901	P14543-2;P14543	.;NID1_HUMAN	H	901;768	ENSP00000264187:R901H;ENSP00000355554:R768H	ENSP00000264187:R901H	R	-	2	0	NID1	234223621	0.997000	0.39634	0.158000	0.22627	0.980000	0.70556	3.508000	0.53378	1.404000	0.46819	0.555000	0.69702	CGC		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		5	12	0	0	0	0.001168	0	5	12				
ADH1B	125	broad.mit.edu	37	4	100237249	100237249	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:100237249G>T	ENST00000305046.8	-	5	440	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	125					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.Q125K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTGCCATCCTGCAGGGTCCCC	0.547																																						ENST00000305046.8																			1	Substitution - Missense(1)	p.Q125K(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(373-375)Cag>Aag		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						71.0	69.0	69.0					4																	100237249		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237249G>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.373C>A	4.37:g.100237249G>T	ENSP00000306606:p.Gln125Lys					ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K	p.Q125K			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	440	-			125					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.373C>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938292	0.34189	.	.	ENSG00000196616	ENST00000305046;ENST00000394887	T;T	0.03181	4.02;4.64	3.96	1.81	0.25067	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.898070	0.03019	N	0.150431	T	0.03651	0.0104	N	0.20807	0.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.01	T	0.40627	-0.9553	10	0.87932	D	0	-0.2903	5.3007	0.15776	0.1711:0.0:0.5183:0.3105	.	85;125	A8MYN5;P00325	.;ADH1B_HUMAN	K	125;85	ENSP00000306606:Q125K;ENSP00000378351:Q85K	ENSP00000306606:Q125K	Q	-	1	0	ADH1B	100456272	0.000000	0.05858	0.026000	0.17262	0.653000	0.38743	-0.054000	0.11826	0.592000	0.29728	0.561000	0.74099	CAG		0.547	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		20	33	1	0	6.33239e-15	0.010504	7.20582e-15	20	33				
CUX1	1523	broad.mit.edu	37	7	101845118	101845118	+	Silent	SNP	C	C	T	rs375527499		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:101845118C>T	ENST00000292535.7	+	18	2579	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.G858G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	847					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G847G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAAACGGGCGGCGGGAAAG	0.687																																						ENST00000360264.3																			1	Substitution - coding silent(1)	p.G847G(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2572-2574)ggC>ggT		cut-like homeobox 1		C	,,,,,,	0,4404		0,0,2202	27.0	30.0	29.0		2574,,,,,,2541	1.5	0.0	7		29	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,4,6497	TT,TC,CC		0.0465,0.0,0.0308	,,,,,,	858/1517,,,,,,847/1506	101845118	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845118C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2541C>T	7.37:g.101845118C>T						CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron	p.G858G	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2594	+			847					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2574C>T	CCDS5721.1																																																																																				0.687	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	75	0	0	0	0.014758	0	5	75				
MUC16	94025	broad.mit.edu	37	19	9061392	9061392	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:9061392G>C	ENST00000397910.4	-	3	26257	c.26054C>G	c.(26053-26055)aCa>aGa	p.T8685R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8687	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8685R(2)|p.T4318R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACACTTGTATTCCCCAG	0.458																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.T8685R(2)|p.T4318R(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26053-26055)aCa>aGa		mucin 16, cell surface associated							105.0	98.0	100.0					19																	9061392		1946	4149	6095	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061392G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26054C>G	19.37:g.9061392G>C	ENSP00000381008:p.Thr8685Arg						p.T8685R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26257	-			8687			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26054C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	2.783	-0.252975	0.05829	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.44	0.123	0.14709	.	.	.	.	.	T	0.27205	0.0667	L	0.32530	0.975	.	.	.	P	0.52316	0.952	P	0.47015	0.534	T	0.28964	-1.0027	8	0.87932	D	0	.	2.438	0.04487	0.1859:0.0:0.5248:0.2893	.	8685	B5ME49	.	R	8685	ENSP00000381008:T8685R	ENSP00000381008:T8685R	T	-	2	0	MUC16	8922392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.572000	0.05881	0.090000	0.17273	-0.553000	0.04205	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	45	0	0	0	0.017118	0	35	45				
CPS1	1373	broad.mit.edu	37	2	211541794	211541794	+	Silent	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:211541794C>T	ENST00000233072.5	+	37	4534	c.4338C>T	c.(4336-4338)gtC>gtT	p.V1446V	CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1446					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V1446V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTAAATTTGTCCATGATAATT	0.378																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.V1446V(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4336-4338)gtC>gtT		carbamoyl-phosphate synthase 1, mitochondrial							184.0	179.0	181.0					2																	211541794		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211541794C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4338C>T	2.37:g.211541794C>T						CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	p.V1446V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	37	4534	+			1446					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.4338C>T	CCDS2393.1																																																																																				0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			48	89	0	0	0	0.014410	0	48	89				
MYLK	4638	broad.mit.edu	37	3	123451902	123451902	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:123451902G>C	ENST00000475616.1	-	8	1356	c.1357C>G	c.(1357-1359)Ccc>Gcc	p.P453A	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000360772.3_Missense_Mutation_p.P453A			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P453A(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTCACGGGGGTGCCTTCC	0.572																																						ENST00000360772.3																			2	Substitution - Missense(2)	p.P453A(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1357-1359)Ccc>Gcc		myosin light chain kinase							56.0	49.0	51.0					3																	123451902		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451902G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1357C>G	3.37:g.123451902G>C	ENSP00000418335:p.Pro453Ala					MYLK_ENST00000475616.1_Missense_Mutation_p.P453A|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron	p.P453A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	12	1735	-		Lung NSC(201;0.0496)	453			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1357C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592720	0.28357	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.42	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66396	0.2785	L	0.41906	1.305	0.31387	N	0.67826	P;P;P	0.52170	0.94;0.94;0.951	P;P;P	0.56216	0.71;0.69;0.794	T	0.61729	-0.7003	9	0.22706	T	0.39	.	9.2716	0.37675	0.0794:0.1458:0.7748:0.0	.	453;453;453	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	A	453	ENSP00000354004:P453A;ENSP00000353452:P453A;ENSP00000352088:P453A;ENSP00000418335:P453A	ENSP00000352088:P453A	P	-	1	0	MYLK	124934592	0.990000	0.36364	0.287000	0.24848	0.261000	0.26267	2.444000	0.44890	2.822000	0.97130	0.655000	0.94253	CCC		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	26	0	0	0	0.001984	0	6	26				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	26	0	0	0	0.009096	0	3	26				
SCN3A	6328	broad.mit.edu	37	2	166020180	166020180	+	Intron	SNP	C	C	T	rs575814709	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:166020180C>T	ENST00000360093.3	-	7	1186				SCN3A_ENST00000283254.7_Silent_p.A214A|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A214A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTTCTCAACGCTGAGACAT	0.408													c|||	2	0.000399361	0.0	0.0	5008	,	,		18881	0.0		0.0	False		,,,				2504	0.002					ENST00000283254.7																			1	Substitution - coding silent(1)	p.A214A(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(640-642)gcG>gcA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						99.0	93.0	95.0					2																	166020180		2203	4300	6503	SO:0001627	intron_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020180C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+131G>A	2.37:g.166020180C>T						SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000360093.3_Intron	p.A214A	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN			7	1109	-			214					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.642G>A																																																																																					0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		26	32	0	0	0	0.007291	0	26	32				
SSC4D	136853	broad.mit.edu	37	7	76029805	76029805	+	Silent	SNP	G	G	A	rs542129562		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:76029805G>A	ENST00000275560.3	-	4	620	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.D91D(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTACGTTGGCGTCCACCACGT	0.701													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14215	0.0		0.0	False		,,,				2504	0.0					ENST00000275560.3																			1	Substitution - coding silent(1)	p.D91D(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(271-273)gaC>gaT		scavenger receptor cysteine rich domain containing, group B (4 domains)																																				SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029805G>A																												ENST00000275560.3:c.273C>T	7.37:g.76029805G>A						ZP3_ENST00000336517.4_Intron	p.D91D	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	620	-			91			SRCR 1.			Silent	SNP	ENST00000275560.3	37	c.273C>T	CCDS5585.1																																																																																				0.701	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			6	7	0	0	0	0.001984	0	6	7				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			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.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	78	0	0	0	0.004482	0	6	78				
C19orf47	126526	broad.mit.edu	37	19	40832339	40832339	+	Missense_Mutation	SNP	C	C	T	rs534758453		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr19:40832339C>T	ENST00000582783.1	-	7	617	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	202						nucleus (GO:0005634)		p.R135Q(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCAGTGACCCGGCGCCGCTT	0.627																																						ENST00000582783.1																			1	Substitution - Missense(1)	p.R135Q(1)	prostate(1)	endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(604-606)cGg>cAg		chromosome 19 open reading frame 47							87.0	68.0	75.0					19																	40832339		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40832339C>T	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.605G>A	19.37:g.40832339C>T	ENSP00000463159:p.Arg202Gln					C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	p.R202Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		7	617	-			202					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.605G>A	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908725	0.97093	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99532	-6.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.80746	2.51	0.80722	D	1	D	0.53885	0.963	B	0.41723	0.365	D	0.99940	1.1397	10	0.29301	T	0.29	0.0	18.2475	0.89991	0.0:1.0:0.0:0.0	.	202	Q8N9M1	CS047_HUMAN	Q	202;135	ENSP00000375889:R135Q	ENSP00000350556:R202Q	R	-	2	0	C19orf47	45524179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.065000	0.76727	2.618000	0.88619	0.462000	0.41574	CGG		0.627	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		11	26	0	0	0	0.010729	0	11	26				
SLC27A4	10999	broad.mit.edu	37	9	131107632	131107632	+	Silent	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr9:131107632C>G	ENST00000300456.4	+	3	477	c.360C>G	c.(358-360)gcC>gcG	p.A120A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	120					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A120A(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGCAGGCCCGGGGCCTGG	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			1	Substitution - coding silent(1)	p.A120A(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(358-360)gcC>gcG		solute carrier family 27 (fatty acid transporter), member 4							57.0	52.0	54.0					9																	131107632		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107632C>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.360C>G	9.37:g.131107632C>G						SLC27A4_ENST00000372870.1_Intron	p.A120A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	477	+			120					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.360C>G	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			16	29	0	0	0	0.004007	0	16	29				
BAI1	575	broad.mit.edu	37	8	143603449	143603449	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr8:143603449C>T	ENST00000517894.1	+	21	4042	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1050C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTCATCCGCAAGCGCTT	0.652																																						ENST00000517894.1																			1	Substitution - Missense(1)	p.R1050C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3148-3150)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31.0	41.0	37.0					8																	143603449		2200	4299	6499	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603449C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3148C>T	8.37:g.143603449C>T	ENSP00000430945:p.Arg1050Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C	p.R1050C			O14514	BAI1_HUMAN			21	4042	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1050						Missense_Mutation	SNP	ENST00000517894.1	37	c.3148C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672201	0.88348	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39406	1.08;1.08	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.62829	0.2460	M	0.86740	2.835	0.80722	D	1	D	0.67145	0.996	P	0.56648	0.803	T	0.73388	-0.3998	10	0.87932	D	0	.	14.6053	0.68475	0.0:1.0:0.0:0.0	.	1050	E9PBK0	.	C	1050	ENSP00000430945:R1050C;ENSP00000313046:R1050C	ENSP00000313046:R1050C	R	+	1	0	BAI1	143600451	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.100000	0.50275	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	30	0	0	0	0.010729	0	10	30				
CTTNBP2	83992	broad.mit.edu	37	7	117386131	117386131	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:117386131A>T	ENST00000160373.3	-	13	3462	c.3371T>A	c.(3370-3372)aTt>aAt	p.I1124N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1124					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.I1124N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCGTGGAAAATGACATTATG	0.398											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000160373.3																			1	Substitution - Missense(1)	p.I1124N(1)	prostate(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3370-3372)aTt>aAt		cortactin binding protein 2							139.0	128.0	132.0					7																	117386131		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117386131A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3371T>A	7.37:g.117386131A>T	ENSP00000160373:p.Ile1124Asn		OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1480		p.I1124N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3462	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1124					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3371T>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.610605|4.610605	0.87258|0.87258	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.76060	.|-0.99	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.188326	.|0.56097	.|D	.|0.000027	D|D	0.83880|0.83880	0.5350|0.5350	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.59767	.|0.986	.|P	.|0.52514	.|0.701	D|D	0.86921|0.86921	0.2067|0.2067	5|10	.|0.87932	.|D	.|0	-11.9651|-11.9651	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1124	.|Q8WZ74	.|CTTB2_HUMAN	Q|N	611|1124	.|ENSP00000160373:I1124N	.|ENSP00000160373:I1124N	H|I	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117173367|117173367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.077000|7.077000	0.76814|0.76814	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.398	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		24	47	0	0	0	0.018920	0	24	47				
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr5:126771182G>C	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e17+1		multiple EGF-like-domains 10							96.0	80.0	85.0					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771182G>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>C	5.37:g.126771182G>C						MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2371	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760872	0.89932	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	15	17	0	0	0	0.002450	0	15	17				
TET1	80312	broad.mit.edu	37	10	70446226	70446226	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr10:70446226G>A	ENST00000373644.4	+	11	5375	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1722					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.K1722K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTCCAAGGAAGGAATGG	0.498																																						ENST00000373644.4																			1	Substitution - coding silent(1)	p.K1722K(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5164-5166)aaG>aaA		tet methylcytosine dioxygenase 1							75.0	77.0	76.0					10																	70446226		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446226G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5166G>A	10.37:g.70446226G>A							p.K1722K	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			11	5375	+			1722					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5166G>A	CCDS7281.1																																																																																				0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		51	75	0	0	0	0.014410	0	51	75				
IGHG1	3500	broad.mit.edu	37	14	106208715	106208715	+	RNA	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr14:106208715T>G	ENST00000390548.2	-	0	302							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTCACAAGATTTGGGCTCTG	0.582																																						ENST00000390548.2																			0																				169.0	166.0	167.0					14																	106208715		1978	4148	6126			0							g.chr14:106208715T>G	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208715T>G														0	302	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.582	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		91	130	0	0	0	0.014410	0	91	130				
HSPA6	3310	broad.mit.edu	37	1	161494903	161494903	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr1:161494903T>G	ENST00000309758.4	+	1	868	c.455T>G	c.(454-456)tTc>tGc	p.F152C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	152					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.F152C(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCGCCTATTTCAATGACTCG	0.632																																						ENST00000309758.4																			2	Substitution - Missense(2)	p.F152C(2)	prostate(2)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(454-456)tTc>tGc		heat shock 70kDa protein 6 (HSP70B')							30.0	33.0	32.0					1																	161494903		2199	4299	6498	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494903T>G		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.455T>G	1.37:g.161494903T>G	ENSP00000310219:p.Phe152Cys						p.F152C	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	868	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		152					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.455T>G	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.619757	0.46736	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.02067	4.47	3.43	3.43	0.39272	.	0.000000	0.45606	U	0.000355	T	0.19967	0.0480	H	0.99970	5.12	0.50813	D	0.999899	D	0.89917	1.0	D	0.85130	0.997	T	0.44892	-0.9298	10	0.87932	D	0	-10.3555	9.8777	0.41213	0.0:0.0:0.0:1.0	.	152	P17066	HSP76_HUMAN	C	152;128	ENSP00000310219:F152C	ENSP00000310219:F152C	F	+	2	0	HSPA6	159761527	1.000000	0.71417	0.619000	0.29118	0.358000	0.29455	4.119000	0.57891	1.409000	0.46915	0.478000	0.44815	TTC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		17	44	0	0	0	0.006122	0	17	44				
SLC45A4	57210	broad.mit.edu	37	8	142222492	142222492	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr8:142222492C>T	ENST00000024061.3	-	7	2259	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000519067.1_Missense_Mutation_p.G651D	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G651D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAAAGAGCCCACAGAGGC	0.627																																						ENST00000519067.1																			1	Substitution - Missense(1)	p.G651D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1951-1953)gGc>gAc		solute carrier family 45, member 4							59.0	61.0	61.0					8																	142222492		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142222492C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1952G>A	8.37:g.142222492C>T	ENSP00000024061:p.Gly651Asp					SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D	p.G651D			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2255	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		702					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1952G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166974	0.94768	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89754	0.3942	10	0.51188	T	0.08	-43.6499	18.9005	0.92440	0.0:1.0:0.0:0.0	.	702;651;651	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	D	651;702;644;651	ENSP00000429059:G651D;ENSP00000428137:G702D;ENSP00000400799:G644D;ENSP00000024061:G651D	ENSP00000024061:G651D	G	-	2	0	SLC45A4	142291674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.272000	0.78516	2.453000	0.82957	0.655000	0.94253	GGC		0.627	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		18	37	0	0	0	0.010504	0	18	37				
PRSS58	136541	broad.mit.edu	37	7	141952406	141952406	+	Silent	SNP	A	A	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:141952406A>C	ENST00000552471.1	-	4	781	c.462T>G	c.(460-462)acT>acG	p.T154T	PRSS58_ENST00000547058.2_Silent_p.T154T			Q8IYP2	PRS58_HUMAN	protease, serine, 58	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T154T(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGTTCACAGTTTGCAGTG	0.383																																						ENST00000552471.1																			2	Substitution - coding silent(2)	p.T154T(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(460-462)acT>acG		protease, serine, 58							134.0	126.0	129.0					7																	141952406		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952406A>C		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.462T>G	7.37:g.141952406A>C						PRSS58_ENST00000547058.2_Silent_p.T154T	p.T154T			Q8IYP2	PRS58_HUMAN			4	781	-			154			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.462T>G	CCDS5871.1																																																																																				0.383	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		9	229	0	0	0	0.006214	0	9	229				
PLPPR5	163404	broad.mit.edu	37	1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr1:99422183G>A	ENST00000263177.4	-	2	573	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.R118*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		118						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358																																						ENST00000370188.3																			1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)								c.(352-354)Cga>Tga									63.0	67.0	66.0					1																	99422183		2202	4300	6502	SO:0001587	stop_gained	0					integral to membrane	hydrolase activity	g.chr1:99422183G>A																												ENST00000263177.4:c.352C>T	1.37:g.99422183G>A	ENSP00000263177:p.Arg118*					LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118*	p.R118*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	712	-			118					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	ENST00000263177.4	37	c.352C>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	37	6.375200	0.97515	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.74	-0.68	0.11346	.	0.066699	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0516	0.64739	0.0:0.0:0.2126:0.7874	.	.	.	.	X	118	.	ENSP00000263177:R118X	R	-	1	2	AL161744.1	99194771	0.994000	0.37717	0.970000	0.41538	0.996000	0.88848	0.449000	0.21744	0.102000	0.17638	0.591000	0.81541	CGA		0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			25	28	0	0	0	0.018920	0	25	28				
ABCB1	5243	broad.mit.edu	37	7	87138593	87138593	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:87138593T>C	ENST00000265724.3	-	27	3904	c.3487A>G	c.(3487-3489)Aat>Gat	p.N1163D	ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1163	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.N1163D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGACTTACATTAGGCAGTGAC	0.493																																						ENST00000265724.3																			1	Substitution - Missense(1)	p.N1163D(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3487-3489)Aat>Gat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						142.0	123.0	129.0					7																	87138593		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138593T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3487A>G	7.37:g.87138593T>C	ENSP00000265724:p.Asn1163Asp					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D	p.N1163D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3904	-	Esophageal squamous(14;0.00164)		1163			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3487A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	7.550	0.662455	0.14645	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89875	-2.58;-2.58	5.93	-1.45	0.08828	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.978011	0.08459	N	0.942728	T	0.73442	0.3587	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57201	-0.7852	10	0.15066	T	0.55	-1.1918	5.8532	0.18704	0.0:0.3687:0.2258:0.4055	.	1099;1163	B5AK60;P08183	.;MDR1_HUMAN	D	944;1163;1099	ENSP00000265724:N1163D;ENSP00000444095:N1099D	ENSP00000265724:N1163D	N	-	1	0	ABCB1	86976529	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.339000	0.07832	-0.321000	0.08627	-0.468000	0.05107	AAT		0.493	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	178	0	0	0	0.014323	0	23	178				
C1orf192	257177	broad.mit.edu	37	1	161334829	161334829	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr1:161334829A>G	ENST00000367974.1	-	5	465	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	154								p.S154P(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATCTGGGGAATTGAGGTTG	0.498																																						ENST00000367974.1																			1	Substitution - Missense(1)	p.S154P(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(460-462)Tcc>Ccc		chromosome 1 open reading frame 192							275.0	257.0	263.0					1																	161334829		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161334829A>G		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.460T>C	1.37:g.161334829A>G	ENSP00000356951:p.Ser154Pro						p.S154P	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	465	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		154						Missense_Mutation	SNP	ENST00000367974.1	37	c.460T>C	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229893	0.22542	.	.	ENSG00000188931	ENST00000367974	.	.	.	4.35	3.18	0.36537	.	0.427419	0.21040	N	0.081185	T	0.14056	0.0340	L	0.36672	1.1	0.25027	N	0.991297	P	0.47191	0.891	B	0.37943	0.261	T	0.05053	-1.0909	8	0.59425	D	0.04	-3.1987	6.8915	0.24232	0.7851:0.0:0.0:0.2149	.	154	Q5VTH2	CA192_HUMAN	P	154	.	ENSP00000356951:S154P	S	-	1	0	C1orf192	159601453	0.000000	0.05858	0.108000	0.21378	0.869000	0.49853	0.353000	0.20130	0.759000	0.33084	0.533000	0.62120	TCC		0.498	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		35	70	0	0	0	0.013726	0	35	70				
DGKQ	1609	broad.mit.edu	37	4	956320	956320	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr4:956320T>C	ENST00000273814.3	-	18	2190	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	706	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.E706G(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCGTCGGCCTCGTCCACAGA	0.657																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			1	Substitution - Missense(1)	p.E706G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2116-2118)gAg>gGg		diacylglycerol kinase, theta 110kDa							54.0	54.0	54.0					4																	956320		2202	4298	6500	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956320T>C	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2117A>G	4.37:g.956320T>C	ENSP00000273814:p.Glu706Gly						p.E706G	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2190	-			706			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2117A>G	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.49|19.49	3.837104|3.837104	0.71373|0.71373	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.44083|.	0.93|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Diacylglycerol kinase, catalytic domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61286|0.61286	0.2335|0.2335	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.875;0.999|.	P;D|.	0.74348|.	0.864;0.983|.	T|T	0.59473|0.59473	-0.7448|-0.7448	10|5	0.72032|.	D|.	0.01|.	.|.	12.7483|12.7483	0.57293|0.57293	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	706;706|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	G|G	706|640	ENSP00000273814:E706G|.	ENSP00000273814:E706G|.	E|R	-|-	2|1	0|2	DGKQ|DGKQ	946320|946320	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.087000|0.087000	0.18053|0.18053	5.420000|5.420000	0.66441|0.66441	1.938000|1.938000	0.56188|0.56188	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.657	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			8	22	0	0	0	0.004482	0	8	22				
TGOLN2	10618	broad.mit.edu	37	2	85553644	85553644	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:85553644T>C	ENST00000409232.3	-	2	1272	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	TGOLN2_ENST00000377386.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R			O43493	TGON2_HUMAN	trans-golgi network protein 2	404						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.H404R(1)									CCGCTTGTTGTGATGAGCGAT	0.562																																						ENST00000377386.3																			1	Substitution - Missense(1)	p.H404R(1)	prostate(1)								c.(1210-1212)cAc>cGc		trans-golgi network protein 2							63.0	63.0	63.0					2																	85553644		1933	4142	6075	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85553644T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1211A>G	2.37:g.85553644T>C	ENSP00000386443:p.His404Arg					TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R	p.H404R			O43493	TGON2_HUMAN			2	1673	-			404					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1211A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226120	0.79576	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.44881	1.05;1.47;0.91;1.14;1.02;1.05	4.68	4.68	0.58851	.	.	.	.	.	T	0.59074	0.2167	L	0.59436	1.845	0.44302	D	0.997171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.62581	-0.6824	9	0.87932	D	0	-28.7016	12.1345	0.53964	0.0:0.0:0.0:1.0	.	404;404;346;404	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	404;248;346;404;404;404	ENSP00000366603:H404R;ENSP00000282120:H248R;ENSP00000381312:H346R;ENSP00000386443:H404R;ENSP00000387035:H404R;ENSP00000391190:H404R	ENSP00000282120:H248R	H	-	2	0	TGOLN2	85407155	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.993000	0.76245	1.967000	0.57214	0.533000	0.62120	CAC		0.562	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		26	41	0	0	0	0.005443	0	26	41				
EFCAB14	9813	broad.mit.edu	37	1	47149017	47149017	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr1:47149017C>T	ENST00000371933.3	-	10	2243	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14_ENST00000484461.1_5'Flank|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	423							calcium ion binding (GO:0005509)	p.A423T(1)									CTTAGTTGGGCAGCTTTCTCA	0.388																																						ENST00000371933.3																			1	Substitution - Missense(1)	p.A423T(1)	prostate(1)								c.(1267-1269)Gcc>Acc		EF-hand calcium binding domain 14							118.0	121.0	120.0					1																	47149017		2203	4300	6503	SO:0001583	missense	9813							g.chr1:47149017C>T	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1267G>A	1.37:g.47149017C>T	ENSP00000361001:p.Ala423Thr					EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	p.A423T	NM_014774.2	NP_055589.1					10	2243	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1267G>A	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254037	0.22965	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.22945	2.31;1.93	4.83	-1.93	0.07594	.	1.133420	0.06335	N	0.706922	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.27262	-1.0079	10	0.05833	T	0.94	-1.0158	2.5236	0.04686	0.1163:0.3609:0.1141:0.4087	.	215;359;423	B7Z3D1;F5H7K3;O75071	.;.;K0494_HUMAN	T	359;423	ENSP00000442465:A359T;ENSP00000361001:A423T	ENSP00000361001:A423T	A	-	1	0	KIAA0494	46921604	0.000000	0.05858	0.198000	0.23420	0.969000	0.65631	-0.544000	0.06077	-0.447000	0.07138	0.655000	0.94253	GCC		0.388	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		33	60	0	0	0	0.013726	0	33	60				
ZZEF1	23140	broad.mit.edu	37	17	3980274	3980274	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr17:3980274T>G	ENST00000381638.2	-	20	3123	c.2999A>C	c.(2998-3000)cAg>cCg	p.Q1000P	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1000							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q1000P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCAGAAACTGGCCCACATC	0.363																																						ENST00000381638.2																			1	Substitution - Missense(1)	p.Q1000P(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2998-3000)cAg>cCg		zinc finger, ZZ-type with EF-hand domain 1							51.0	50.0	50.0					17																	3980274		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3980274T>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2999A>C	17.37:g.3980274T>G	ENSP00000371051:p.Gln1000Pro					ZZEF1_ENST00000574474.1_5'UTR	p.Q1000P	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			20	3123	-			1000					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2999A>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336564	0.60963	.	.	ENSG00000074755	ENST00000381638	T	0.23147	1.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.29908	0.895	0.54753	D	0.99998	D;D	0.69078	0.996;0.997	P;P	0.61275	0.886;0.824	T	0.06110	-1.0845	10	0.49607	T	0.09	-15.5697	10.9776	0.47475	0.1393:0.0:0.0:0.8607	.	1001;1000	O43149-3;O43149	.;ZZEF1_HUMAN	P	1000	ENSP00000371051:Q1000P	ENSP00000371051:Q1000P	Q	-	2	0	ZZEF1	3927023	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	4.303000	0.59098	2.155000	0.67459	0.459000	0.35465	CAG		0.363	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		18	40	0	0	0	0.004990	0	18	40				
TWF1	5756	broad.mit.edu	37	12	44189532	44189532	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr12:44189532C>A	ENST00000395510.2	-	9	1038	c.909G>T	c.(907-909)ttG>ttT	p.L303F	TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	303	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L303F(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGTCTGCAGTCAACTCATCCC	0.383																																						ENST00000395510.2																			1	Substitution - Missense(1)	p.L303F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(907-909)ttG>ttT		twinfilin actin-binding protein 1							101.0	96.0	98.0					12																	44189532		2203	4300	6503	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44189532C>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.909G>T	12.37:g.44189532C>A	ENSP00000378886:p.Leu303Phe					TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F	p.L303F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	9	1038	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	303			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.909G>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946387	0.53079	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.38	4.47	0.54385	Actin-binding, cofilin/tropomyosin type (2);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69266	-0.5190	10	0.66056	D	0.02	-20.1605	12.6526	0.56770	0.0:0.8725:0.0:0.1275	.	310;303	Q12792-3;Q12792	.;TWF1_HUMAN	F	205;303;337;310	ENSP00000448750:L205F;ENSP00000378886:L303F;ENSP00000321058:L337F;ENSP00000449428:L310F	ENSP00000321058:L337F	L	-	3	2	TWF1	42475799	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.362000	0.34148	2.683000	0.91414	0.561000	0.74099	TTG		0.383	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		38	59	1	0	8.69298e-16	0.006999	1.00304e-15	38	59				
MAP3K10	4294	broad.mit.edu	37	19	40698519	40698519	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr19:40698519A>G	ENST00000253055.3	+	1	869	c.581A>G	c.(580-582)cAc>cGc	p.H194R	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.H194R(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGCCACCTCACGTGCTGGTC	0.642																																						ENST00000253055.3																			2	Substitution - Missense(2)	p.H194R(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(580-582)cAc>cGc		mitogen-activated protein kinase kinase kinase 10							46.0	41.0	43.0					19																	40698519		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698519A>G	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.581A>G	19.37:g.40698519A>G	ENSP00000253055:p.His194Arg					MAP3K10_ENST00000593906.1_Intron	p.H194R	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			1	869	+			194			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.581A>G	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027304	0.35797	.	.	ENSG00000130758	ENST00000253055	D	0.82081	-1.57	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125015	0.51477	D	0.000083	T	0.62380	0.2423	N	0.02721	-0.515	0.36493	D	0.868567	B	0.10296	0.003	B	0.18263	0.021	T	0.62671	-0.6805	10	0.14252	T	0.57	.	12.5767	0.56367	1.0:0.0:0.0:0.0	.	194	Q02779	M3K10_HUMAN	R	194	ENSP00000253055:H194R	ENSP00000253055:H194R	H	+	2	0	MAP3K10	45390359	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	3.478000	0.53158	2.074000	0.62210	0.459000	0.35465	CAC		0.642	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		10	17	0	0	0	0.010729	0	10	17				
IGKV2-24	28923	broad.mit.edu	37	2	89475970	89475970	+	RNA	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:89475970G>C	ENST00000484817.1	-	0	231									immunoglobulin kappa variable 2-24																		AGTCTTGGAGGCTGGCCTGGC	0.522																																						ENST00000484817.1																			0																				111.0	111.0	111.0					2																	89475970		1832	4077	5909			0							g.chr2:89475970G>C	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475970G>C														0	231	-									RNA	SNP	ENST00000484817.1	37																																																																																						0.522	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		6	213	0	0	0	0.001168	0	6	213				
FBLN2	2199	broad.mit.edu	37	3	13663379	13663379	+	Intron	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr3:13663379G>T	ENST00000295760.7	+	8	2224				FBLN2_ENST00000404922.3_Missense_Mutation_p.D754Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.D754Y(1)|p.D173Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTCTGTGCCGATGGCTATAT	0.612																																						ENST00000404922.3																			2	Substitution - Missense(2)	p.D754Y(1)|p.D173Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2260-2262)Gat>Tat		fibulin 2							81.0	87.0	85.0					3																	13663379		2088	4213	6301	SO:0001627	intron_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13663379G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+2048G>T	3.37:g.13663379G>T						FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	p.D754Y	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		9	2379	+			753			EGF-like 3; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2260G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783192	0.49891	.	.	ENSG00000163520	ENST00000404922;ENST00000492059	D;D	0.92595	-3.07;-3.07	5.27	2.45	0.29901	.	0.865178	0.09766	U	0.758667	D	0.89157	0.6635	L	0.33792	1.035	0.80722	D	1	P	0.46952	0.887	P	0.46479	0.518	T	0.82238	-0.0556	10	0.66056	D	0.02	.	9.1202	0.36782	0.0768:0.3057:0.6175:0.0	.	754	P98095-2	.	Y	754	ENSP00000384169:D754Y;ENSP00000420042:D754Y	ENSP00000384169:D754Y	D	+	1	0	FBLN2	13638380	0.989000	0.36119	0.808000	0.32385	0.747000	0.42532	2.066000	0.41452	0.190000	0.20209	0.579000	0.79373	GAT		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		11	27	1	0	3.07112e-06	0.010729	3.35031e-06	11	27				
LAMA4	3910	broad.mit.edu	37	6	112441551	112441551	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr6:112441551T>G	ENST00000230538.7	-	33	4997	c.4600A>C	c.(4600-4602)Aat>Cat	p.N1534H	LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1534	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N1527H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGACCAACATTAAACATGTAA	0.418																																						ENST00000230538.7																			1	Substitution - Missense(1)	p.N1527H(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4600-4602)Aat>Cat		laminin, alpha 4							125.0	118.0	120.0					6																	112441551		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112441551T>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4600A>C	6.37:g.112441551T>G	ENSP00000230538:p.Asn1534His					LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H|LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H	p.N1534H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	33	4997	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1534			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4600A>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465301	0.84425	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.044369	0.85682	D	0.000000	D	0.87954	0.6308	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89268	0.3602	10	0.62326	D	0.03	.	16.1475	0.81580	0.0:0.0:0.0:1.0	.	1534;1527	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1534;1527;1527;1527	ENSP00000230538:N1534H;ENSP00000429488:N1527H;ENSP00000374114:N1527H;ENSP00000416470:N1527H	ENSP00000230538:N1534H	N	-	1	0	LAMA4	112548244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.316000	0.65815	2.213000	0.71641	0.528000	0.53228	AAT		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		20	16	0	0	0	0.008871	0	20	16				
ATRX	546	broad.mit.edu	37	X	76891438	76891438	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chrX:76891438A>G	ENST00000373344.5	-	16	4881	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T	ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1556					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.M1556T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTGATAACCATATTTCTATG	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.M1556T(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4666-4668)aTg>aCg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						79.0	65.0	70.0					X																	76891438		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76891438A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4667T>C	X.37:g.76891438A>G	ENSP00000362441:p.Met1556Thr					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T	p.M1556T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			16	4881	-			1556					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4667T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759941	0.49468	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.23552	1.9;1.9	5.46	5.46	0.80206	DEAD-like helicase (1);	0.139619	0.49916	U	0.000133	T	0.28995	0.0720	L	0.36672	1.1	0.80722	D	1	P;P	0.51351	0.944;0.918	P;B	0.47402	0.546;0.428	T	0.03807	-1.1002	10	0.87932	D	0	-8.0909	14.5883	0.68344	1.0:0.0:0.0:0.0	.	1518;1556	P46100-4;P46100	.;ATRX_HUMAN	T	1556;1518	ENSP00000362441:M1556T;ENSP00000378967:M1518T	ENSP00000362441:M1556T	M	-	2	0	ATRX	76778094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	1.826000	0.53198	0.486000	0.48141	ATG		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	5	0	0	0	0.004990	0	18	5				
IFT122	55764	broad.mit.edu	37	3	129188218	129188218	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr3:129188218C>G	ENST00000348417.2	+	9	851	c.774C>G	c.(772-774)gaC>gaG	p.D258E	IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E|IFT122_ENST00000296266.3_Missense_Mutation_p.D309E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	258					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D309E(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGTGGCTGACTGGGGACAGA	0.443																																						ENST00000296266.3																			1	Substitution - Missense(1)	p.D309E(1)	prostate(1)	breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(925-927)gaC>gaG		intraflagellar transport 122 homolog (Chlamydomonas)							140.0	141.0	141.0					3																	129188218		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129188218C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.774C>G	3.37:g.129188218C>G	ENSP00000324005:p.Asp258Glu					IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E	p.D309E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			10	1119	+			258					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.927C>G	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940626|3.940626	0.73557|0.73557	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000511498|ENST00000512157;ENST00000515783	T;T;T;D;T;T;T;D;T|.	0.90324|.	-0.25;1.52;1.52;-2.65;1.51;1.51;-0.25;-2.65;2.25|.	5.88|5.88	2.16|2.16	0.27623|0.27623	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.35644|0.35644	1.08|1.08	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P;P;D;D|.	0.67145|.	0.996;0.994;0.928;0.884;0.823;0.889;0.994;0.996|.	D;D;P;P;P;P;D;D|.	0.77557|.	0.99;0.97;0.677;0.465;0.566;0.749;0.978;0.99|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.45353|.	T|.	0.12|.	-35.1221|-35.1221	9.8127|9.8127	0.40833|0.40833	0.0:0.669:0.0:0.331|0.0:0.669:0.0:0.331	.|.	49;250;152;98;147;199;258;309|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	E|V	199;309;250;199;108;152;147;258;98;49;49|137;85	ENSP00000323973:D199E;ENSP00000296266:D309E;ENSP00000425536:D250E;ENSP00000410946:D108E;ENSP00000422179:D152E;ENSP00000324165:D147E;ENSP00000324005:D258E;ENSP00000401569:D49E;ENSP00000422237:D49E|.	ENSP00000296266:D309E|.	D|L	+|+	3|1	2|2	IFT122|IFT122	130670908|130670908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.912000|0.912000	0.28597|0.28597	0.117000|0.117000	0.18138|0.18138	0.655000|0.655000	0.94253|0.94253	GAC|CTG		0.443	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		63	79	0	0	0	0.014410	0	63	79				
MKI67	4288	broad.mit.edu	37	10	129901213	129901213	+	Missense_Mutation	SNP	C	C	G	rs267602414		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr10:129901213C>G	ENST00000368654.3	-	13	9266	c.8891G>C	c.(8890-8892)cGg>cCg	p.R2964P	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493																																						ENST00000368654.3																			1	Substitution - Missense(1)	p.R2964P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8890-8892)cGg>cCg		marker of proliferation Ki-67							87.0	91.0	89.0					10																	129901213		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901213C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8891G>C	10.37:g.129901213C>G	ENSP00000357643:p.Arg2964Pro					MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	p.R2964P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9266	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2964					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8891G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402712	0.42613	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02812	4.19;4.15	4.05	2.58	0.30949	.	0.306550	0.23391	N	0.048693	T	0.05960	0.0155	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.37361	-0.9709	10	0.25106	T	0.35	.	7.1254	0.25469	0.0:0.8376:0.0:0.1624	.	2963;2604;2964	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	2964;2604;2963	ENSP00000357643:R2964P;ENSP00000357642:R2604P	ENSP00000357642:R2604P	R	-	2	0	MKI67	129791203	0.003000	0.15002	0.006000	0.13384	0.013000	0.08279	0.589000	0.23939	0.874000	0.35823	0.561000	0.74099	CGG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		58	133	0	0	0	0.014410	0	58	133				
SPAG16	79582	broad.mit.edu	37	2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	rs142357329	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438																																						ENST00000331683.5																			2	Substitution - Missense(2)	p.R437C(2)	prostate(2)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1309-1311)Cgc>Tgc		sperm associated antigen 16		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	113.0	112.0	113.0		1309	5.5	0.8	2	dbSNP_134	113	0,8600		0,0,4300	no	missense	SPAG16	NM_024532.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	437/632	214794778	2,13004	2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794778C>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1309C>T	2.37:g.214794778C>T	ENSP00000332592:p.Arg437Cys					SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	p.R437C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1404	+		Renal(323;0.00461)	437					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1309C>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923469	0.52653	4.54E-4	0.0	ENSG00000144451	ENST00000331683;ENST00000374309	D;D	0.81499	-1.5;-1.5	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.332871	0.28376	N	0.015577	D	0.82674	0.5088	L	0.43923	1.385	0.40789	D	0.983242	D;D;D;D	0.58620	0.983;0.979;0.967;0.983	B;B;P;B	0.53062	0.417;0.409;0.717;0.417	D	0.83392	0.0018	10	0.46703	T	0.11	.	17.8902	0.88870	0.0:1.0:0.0:0.0	.	343;288;377;437	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	C	437;343	ENSP00000332592:R437C;ENSP00000363428:R343C	ENSP00000332592:R437C	R	+	1	0	SPAG16	214503023	0.565000	0.26610	0.839000	0.33178	0.039000	0.13416	3.522000	0.53480	2.550000	0.86006	0.655000	0.94253	CGC		0.438	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		49	50	0	0	0	0.014410	0	49	50				
TPTE2	93492	broad.mit.edu	37	13	20049751	20049751	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr13:20049751C>A	ENST00000400230.2	-	5	236	c.192G>T	c.(190-192)aaG>aaT	p.K64N	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	64					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K64N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACAATTTTCTTAATCTTGC	0.299																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.K64N(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(190-192)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							27.0	28.0	28.0					13																	20049751		2199	4293	6492	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20049751C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.192G>T	13.37:g.20049751C>A	ENSP00000383089:p.Lys64Asn					TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N	p.K64N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	5	236	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	64					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.192G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.616070	0.28801	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D	0.96168	-3.93;-3.58;-3.58;-3.93	2.39	1.54	0.23209	.	0.463681	0.21047	U	0.081064	D	0.94801	0.8321	L	0.54323	1.7	0.09310	N	0.999999	D	0.71674	0.998	P	0.59546	0.859	D	0.87759	0.2597	9	.	.	.	-5.1118	5.0849	0.14676	0.0:0.8267:0.0:0.1733	.	64	Q6XPS3	TPTE2_HUMAN	N	64	ENSP00000372438:K64N;ENSP00000383089:K64N;ENSP00000372437:K64N;ENSP00000372435:K64N	.	K	-	3	2	TPTE2	18947751	0.154000	0.22792	0.009000	0.14445	0.002000	0.02628	0.236000	0.17967	0.571000	0.29365	-0.373000	0.07131	AAG		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		20	33	1	0	2.27731e-05	0.012319	2.43997e-05	20	33				
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.P44L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)cCg>cTg		protease, serine, 50							36.0	40.0	39.0					3																	46759103		2202	4298	6500	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759103G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.131C>T	3.37:g.46759103G>A	ENSP00000418875:p.Pro44Leu					PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L	p.P44L			Q9UI38	TSP50_HUMAN			7	1801	-			44						Missense_Mutation	SNP	ENST00000460241.1	37	c.131C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014302	0.07959	.	.	ENSG00000206549	ENST00000315170;ENST00000460241	D;D	0.89552	-2.53;-2.53	3.29	-1.01	0.10169	.	1.022730	0.07856	N	0.965422	T	0.76884	0.4050	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.58864	-0.7561	9	.	.	.	.	4.5313	0.12006	0.2662:0.4115:0.3224:0.0	.	44	Q9UI38	TSP50_HUMAN	L	44	ENSP00000326598:P44L;ENSP00000418875:P44L	.	P	-	2	0	PRSS50	46734107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	-0.241000	0.09681	-1.240000	0.01540	CCG		0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			12	17	0	0	0	0.010729	0	12	17				
ACAP1	9744	broad.mit.edu	37	17	7250419	7250419	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr17:7250419C>T	ENST00000158762.3	+	14	1407	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	401					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P401S(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGGAAGGGAGCCTGGGGGAGT	0.677																																						ENST00000158762.3																			1	Substitution - Missense(1)	p.P401S(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1201-1203)Cct>Tct		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							34.0	38.0	37.0					17																	7250419		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250419C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1201C>T	17.37:g.7250419C>T	ENSP00000158762:p.Pro401Ser						p.P401S	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			14	1407	+			401					Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1201C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	2.428	-0.331418	0.05314	.	.	ENSG00000072818	ENST00000158762	T	0.73152	-0.72	4.77	-0.754	0.11065	.	0.593042	0.16927	N	0.193828	T	0.41396	0.1157	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.08837	T	0.75	.	8.0133	0.30365	0.0:0.4683:0.0:0.5317	.	401	Q15027	ACAP1_HUMAN	S	401	ENSP00000158762:P401S	ENSP00000158762:P401S	P	+	1	0	ACAP1	7191143	0.000000	0.05858	0.776000	0.31678	0.625000	0.37756	-0.512000	0.06313	-0.020000	0.14032	0.462000	0.41574	CCT		0.677	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	40	0	0	0	0.001984	0	7	40				
XIST	7503	broad.mit.edu	37	X	73066388	73066388	+	lincRNA	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chrX:73066388G>T	ENST00000429829.1	-	0	6200					NR_001564.2				X inactive specific transcript (non-protein coding)																		AATGAGCAGTGTGCGATTACG	0.463																																						ENST00000429829.1																			0																				207.0	176.0	186.0					X																	73066388		876	1991	2867			0							g.chrX:73066388G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066388G>T								NR_001564.2						0	6200	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		63	15	1	0	2.01871e-26	0.014410	2.37496e-26	63	15				
NID1	4811	broad.mit.edu	37	1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697																																						ENST00000264187.6																			1	Substitution - Missense(1)	p.R901H(1)	prostate(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2701-2703)cGc>cAc		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						20.0	20.0	20.0					1																	236156998		2200	4297	6497	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236156998C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2702G>A	1.37:g.236156998C>T	ENSP00000264187:p.Arg901His					NID1_ENST00000366595.3_Missense_Mutation_p.R768H	p.R901H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2784	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	901			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2702G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023124	0.93462	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.64991	-0.13;-0.13	5.69	4.78	0.61160	Thyroglobulin type-1 (6);	0.102238	0.64402	D	0.000002	T	0.76779	0.4035	M	0.79693	2.465	0.28115	N	0.930829	D;D	0.71674	0.998;0.996	P;P	0.61722	0.819;0.893	T	0.73069	-0.4099	10	0.45353	T	0.12	.	14.0528	0.64749	0.0:0.9269:0.0:0.0731	.	768;901	P14543-2;P14543	.;NID1_HUMAN	H	901;768	ENSP00000264187:R901H;ENSP00000355554:R768H	ENSP00000264187:R901H	R	-	2	0	NID1	234223621	0.997000	0.39634	0.158000	0.22627	0.980000	0.70556	3.508000	0.53378	1.404000	0.46819	0.555000	0.69702	CGC		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		5	12	0	0	0	0.001168	0	5	12				
ADH1B	125	broad.mit.edu	37	4	100237249	100237249	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr4:100237249G>T	ENST00000305046.8	-	5	440	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	125					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.Q125K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTGCCATCCTGCAGGGTCCCC	0.547																																						ENST00000305046.8																			1	Substitution - Missense(1)	p.Q125K(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(373-375)Cag>Aag		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						71.0	69.0	69.0					4																	100237249		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237249G>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.373C>A	4.37:g.100237249G>T	ENSP00000306606:p.Gln125Lys					ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K	p.Q125K			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	440	-			125					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.373C>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938292	0.34189	.	.	ENSG00000196616	ENST00000305046;ENST00000394887	T;T	0.03181	4.02;4.64	3.96	1.81	0.25067	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.898070	0.03019	N	0.150431	T	0.03651	0.0104	N	0.20807	0.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.01	T	0.40627	-0.9553	10	0.87932	D	0	-0.2903	5.3007	0.15776	0.1711:0.0:0.5183:0.3105	.	85;125	A8MYN5;P00325	.;ADH1B_HUMAN	K	125;85	ENSP00000306606:Q125K;ENSP00000378351:Q85K	ENSP00000306606:Q125K	Q	-	1	0	ADH1B	100456272	0.000000	0.05858	0.026000	0.17262	0.653000	0.38743	-0.054000	0.11826	0.592000	0.29728	0.561000	0.74099	CAG		0.547	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		20	33	1	0	6.33239e-15	0.010504	7.16874e-15	20	33				
CUX1	1523	broad.mit.edu	37	7	101845118	101845118	+	Silent	SNP	C	C	T	rs375527499		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:101845118C>T	ENST00000292535.7	+	18	2579	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.G858G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	847					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G847G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAAACGGGCGGCGGGAAAG	0.687																																						ENST00000360264.3																			1	Substitution - coding silent(1)	p.G847G(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2572-2574)ggC>ggT		cut-like homeobox 1		C	,,,,,,	0,4404		0,0,2202	27.0	30.0	29.0		2574,,,,,,2541	1.5	0.0	7		29	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,4,6497	TT,TC,CC		0.0465,0.0,0.0308	,,,,,,	858/1517,,,,,,847/1506	101845118	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845118C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2541C>T	7.37:g.101845118C>T						CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000393824.3_Intron	p.G858G	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2594	+			847					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2574C>T	CCDS5721.1																																																																																				0.687	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	75	0	0	0	0.014758	0	5	75				
MUC16	94025	broad.mit.edu	37	19	9061392	9061392	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr19:9061392G>C	ENST00000397910.4	-	3	26257	c.26054C>G	c.(26053-26055)aCa>aGa	p.T8685R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8687	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8685R(2)|p.T4318R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACACTTGTATTCCCCAG	0.458																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.T8685R(2)|p.T4318R(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26053-26055)aCa>aGa		mucin 16, cell surface associated							105.0	98.0	100.0					19																	9061392		1946	4149	6095	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061392G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26054C>G	19.37:g.9061392G>C	ENSP00000381008:p.Thr8685Arg						p.T8685R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26257	-			8687			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26054C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	2.783	-0.252975	0.05829	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.44	0.123	0.14709	.	.	.	.	.	T	0.27205	0.0667	L	0.32530	0.975	.	.	.	P	0.52316	0.952	P	0.47015	0.534	T	0.28964	-1.0027	8	0.87932	D	0	.	2.438	0.04487	0.1859:0.0:0.5248:0.2893	.	8685	B5ME49	.	R	8685	ENSP00000381008:T8685R	ENSP00000381008:T8685R	T	-	2	0	MUC16	8922392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.572000	0.05881	0.090000	0.17273	-0.553000	0.04205	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	45	0	0	0	0.017118	0	35	45				
CPS1	1373	broad.mit.edu	37	2	211541794	211541794	+	Silent	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:211541794C>T	ENST00000233072.5	+	37	4534	c.4338C>T	c.(4336-4338)gtC>gtT	p.V1446V	CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1446					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V1446V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTAAATTTGTCCATGATAATT	0.378																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.V1446V(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4336-4338)gtC>gtT		carbamoyl-phosphate synthase 1, mitochondrial							184.0	179.0	181.0					2																	211541794		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211541794C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4338C>T	2.37:g.211541794C>T						CPS1_ENST00000451903.2_Silent_p.V995V|CPS1_ENST00000430249.2_Silent_p.V1452V	p.V1446V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	37	4534	+			1446					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.4338C>T	CCDS2393.1																																																																																				0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			48	89	0	0	0	0.014410	0	48	89				
MYLK	4638	broad.mit.edu	37	3	123451902	123451902	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr3:123451902G>C	ENST00000475616.1	-	8	1356	c.1357C>G	c.(1357-1359)Ccc>Gcc	p.P453A	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000360772.3_Missense_Mutation_p.P453A			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P453A(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTCACGGGGGTGCCTTCC	0.572																																						ENST00000360772.3																			2	Substitution - Missense(2)	p.P453A(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1357-1359)Ccc>Gcc		myosin light chain kinase							56.0	49.0	51.0					3																	123451902		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451902G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1357C>G	3.37:g.123451902G>C	ENSP00000418335:p.Pro453Ala					MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000475616.1_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron	p.P453A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	12	1735	-		Lung NSC(201;0.0496)	453			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1357C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592720	0.28357	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.42	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66396	0.2785	L	0.41906	1.305	0.31387	N	0.67826	P;P;P	0.52170	0.94;0.94;0.951	P;P;P	0.56216	0.71;0.69;0.794	T	0.61729	-0.7003	9	0.22706	T	0.39	.	9.2716	0.37675	0.0794:0.1458:0.7748:0.0	.	453;453;453	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	A	453	ENSP00000354004:P453A;ENSP00000353452:P453A;ENSP00000352088:P453A;ENSP00000418335:P453A	ENSP00000352088:P453A	P	-	1	0	MYLK	124934592	0.990000	0.36364	0.287000	0.24848	0.261000	0.26267	2.444000	0.44890	2.822000	0.97130	0.655000	0.94253	CCC		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	26	0	0	0	0.001984	0	6	26				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	26	0	0	0	0.009096	0	3	26				
SIRPB1	10326	broad.mit.edu	37	20	1600530	1600530	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr20:1600530G>A	ENST00000381605.4	-	1	125	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381603.3_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	21					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L21L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTCTCCCCAGCAGTAGCGTC	0.562																																						ENST00000381605.4																			1	Substitution - coding silent(1)	p.L21L(1)	prostate(1)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(61-63)Ctg>Ttg		signal-regulatory protein beta 1							95.0	85.0	89.0					20																	1600530		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600530G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.61C>T	20.37:g.1600530G>A						RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000568365.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.L21L	p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			1	125	-			21					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.61C>T	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		28	41	0	0	0	0.007291	0	28	41				
SCN3A	6328	broad.mit.edu	37	2	166020180	166020180	+	Intron	SNP	C	C	T	rs575814709	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr2:166020180C>T	ENST00000360093.3	-	7	1186				SCN3A_ENST00000283254.7_Silent_p.A214A|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A214A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTTCTCAACGCTGAGACAT	0.408													c|||	2	0.000399361	0.0	0.0	5008	,	,		18881	0.0		0.0	False		,,,				2504	0.002					ENST00000283254.7																			1	Substitution - coding silent(1)	p.A214A(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(640-642)gcG>gcA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						99.0	93.0	95.0					2																	166020180		2203	4300	6503	SO:0001627	intron_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020180C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+131G>A	2.37:g.166020180C>T						SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000360093.3_Intron	p.A214A	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN			7	1109	-			214					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.642G>A																																																																																					0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		26	32	0	0	0	0.007291	0	26	32				
NOX3	50508	broad.mit.edu	37	6	155761273	155761274	+	Splice_Site	INS	-	-	A	rs371739217		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:155761273_155761274insA	ENST00000159060.2	-	6	589		c.e6-2			NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3						detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaacaa	0.356																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.e6-2		NADPH oxidase 3				1,4263		0,1,2131						5.5	0.2			64	1,8253		0,1,4126	no	splice-3	NOX3	NM_015718.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001630	splice_region_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761273_155761274insA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.487-2->T	6.37:g.155761281_155761281dupA								NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	589	-		Breast(66;0.0183)						Q9HBJ9	Splice_Site	INS	ENST00000159060.2	37		CCDS5250.1																																																																																				0.356	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		Intron	28	33						28	33	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			7	511						7	511	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		cctacacacaGAAAAAAAAATG	0.49																																						ENST00000390374.3																			0																	13,3677		1,11,1833						-3.2	0.0			105	7,7891		2,3,3944	no	intergenic				3,14,5777	A1A1,A1R,RR		0.0886,0.3523,0.1726				20,11568						0							g.chr7:142139683_142139684insA	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139692_142139692dupA														0	94	-									RNA	INS	ENST00000390374.3	37																																																																																						0.490	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		8	243						8	243	---	---	---	---
OR51D1	390038	broad.mit.edu	37	11	4661689	4661690	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr11:4661689_4661690delCT	ENST00000357605.2	+	1	745_746	c.669_670delCT	c.(667-672)gactctfs	p.S224fs	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGTGTGGACTCTCTCTTCAT	0.495																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(667-672)gactfs		olfactory receptor, family 51, subfamily D, member 1																																				SO:0001589	frameshift_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661689_4661690delCT	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.669_670delCT	11.37:g.4661695_4661696delCT	ENSP00000350222:p.Ser224fs						p.DS223fs	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	745_746	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	223					B9EIK4	Frame_Shift_Del	DEL	ENST00000357605.2	37	c.669_670delCT	CCDS31357.1																																																																																				0.495	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		40	76						40	76	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104205266	104205268	+	In_Frame_Del	DEL	GAC	GAC	-	rs369723625		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr14:104205266_104205268delGAC	ENST00000202556.9	-	13	2967_2969	c.2685_2687delGTC	c.(2683-2688)gcgtct>gct	p.S896del	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.S315del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	896					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTTCCAGAGACGCGTCTAGGA	0.626																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2683-2688)gct>gc		protein phosphatase 1, regulatory subunit 13B																																				SO:0001651	inframe_deletion	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205266_104205268delGAC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2685_2687delGTC	14.37:g.104205266_104205268delGAC	ENSP00000202556:p.Ser896del					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del	p.AS895del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2967_2969	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	895					B2RMX5|O94870	In_Frame_Del	DEL	ENST00000202556.9	37	c.2685_2687delGTC	CCDS41997.1																																																																																				0.626	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		40	88						40	88	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761273	155761274	+	Splice_Site	INS	-	-	A	rs371739217		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr6:155761273_155761274insA	ENST00000159060.2	-	6	589		c.e6-2			NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3						detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaacaa	0.356																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.e6-2		NADPH oxidase 3				1,4263		0,1,2131						5.5	0.2			64	1,8253		0,1,4126	no	splice-3	NOX3	NM_015718.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001630	splice_region_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761273_155761274insA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.487-2->T	6.37:g.155761281_155761281dupA								NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	589	-		Breast(66;0.0183)						Q9HBJ9	Splice_Site	INS	ENST00000159060.2	37		CCDS5250.1																																																																																				0.356	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		Intron	28	33						28	33	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(1252-1254)cfs		family with sequence similarity 115, member C			,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966							g.chr7:143417404_143417405delCT	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs					FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs	p.L418fs			A6NFQ2	F115C_HUMAN			3	1318_1319	+			418					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37	c.1252_1253delCT																																																																																					0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		7	11						7	11	---	---	---	---
OR51D1	390038	broad.mit.edu	37	11	4661689	4661690	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr11:4661689_4661690delCT	ENST00000357605.2	+	1	745_746	c.669_670delCT	c.(667-672)gactctfs	p.S224fs	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGTGTGGACTCTCTCTTCAT	0.495																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(667-672)gactfs		olfactory receptor, family 51, subfamily D, member 1																																				SO:0001589	frameshift_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661689_4661690delCT	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.669_670delCT	11.37:g.4661695_4661696delCT	ENSP00000350222:p.Ser224fs						p.DS223fs	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	745_746	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	223					B9EIK4	Frame_Shift_Del	DEL	ENST00000357605.2	37	c.669_670delCT	CCDS31357.1																																																																																				0.495	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		40	76						40	76	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104205266	104205268	+	In_Frame_Del	DEL	GAC	GAC	-	rs369723625		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	571e38b2-e5df-48f5-a2e0-4ab54b1e47c5	g.chr14:104205266_104205268delGAC	ENST00000202556.9	-	13	2967_2969	c.2685_2687delGTC	c.(2683-2688)gcgtct>gct	p.S896del	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.S315del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	896					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTTCCAGAGACGCGTCTAGGA	0.626																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2683-2688)gct>gc		protein phosphatase 1, regulatory subunit 13B																																				SO:0001651	inframe_deletion	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205266_104205268delGAC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2685_2687delGTC	14.37:g.104205266_104205268delGAC	ENSP00000202556:p.Ser896del					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del	p.AS895del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2967_2969	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	895					B2RMX5|O94870	In_Frame_Del	DEL	ENST00000202556.9	37	c.2685_2687delGTC	CCDS41997.1																																																																																				0.626	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		40	88						40	88	---	---	---	---
